搜索结果:Pahtwayp1498原始注释中有430个基因。当前,SZGR 2.0中有232个基因(在精神分裂症中有证据)在该途径中存在。

由于基因页面包含大量信息,因此加载平均需要3-5秒。因此,当您单击基因ID时,请耐心等待加载页面。

Gene ID Symbol Synonyms Official Full Name Location SZ组 功能小组
80336 PABPC1L C20orf119 |epab |PABPC1L1 |DJ1069P2.3 poly(A) binding protein, cytoplasmic 1-like - CV:PGCnp
100507564 LOC100507564 - 未表征的LOC100507564 - CV:GWASdb
CV:PGCnp
221079 arl5b ARL8 ADP ribosylation factor like GTPase 5B 10p12.31 CV:PGCnp
PMID:cooccur
55388 MCM10 CNA43 |DNA43 |Pro2249 minichromosome maintenance 10 replication initiation factor 10p13 CV:PGCnp
DMG:Wockner_2014
Ascano FMRP targets
23560 GTPBP4 CRFG | NGB | NOG1 GTP binding protein 4 10p15-p14 CV:PGCnp
5214 PFKP ATP-PFK | PFK-C | PFK-P | PFKF phosphofructokinase, platelet 10p15.3-p15.2 CV:PGCnp
DMG:Wockner_2014
Network
CELL METABOLISM
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2CDB.HUMAN_CLATHRIN
G2Cdb.human_Synaptosome
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
11130 ZWINT HZwint-1 | KNTC2AP | SIP30 | ZWINT1 ZW10 interacting kinetochore protein 10q21-q22 CV:PGCnp
DMG:Jaffe_2016
G2Cdb.humanPSD
G2Cdb.humanPSP
983 CDK1 CDC2 | CDC28A | P34CDC2 cyclin-dependent kinase 1 10q21.1 CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
GO_Annotation
Network
5092 PCBD1 DCOH | PCBD | PCD | PHS 翼蛋白-4α-甲醇胺脱氢酶1 10q22 CV:PGCnp
57559 STAMBPL1 ALMalpha | AMSH-FP | AMSH-LP | bA399O19.2 STAM binding protein like 1 10q23.31 DMG:Jaffe_2016
26509 Myof FER1L3 myoferlin 10q24 CV:PGCnp
DNM:Fromer_2014
CompositeSet
119392 SFR1 C10orf78 | MEI5 | MEIR5 | bA373N18.1 SWI5依赖同源重组修复专业tein 1 10q25.1 CV:GWASdb
CV:PGCnp
9184 BUB3 BUB3L | hBUB3 BUB3 mitotic checkpoint protein 10q26 CV:GWAScat
CV:PGCnp
GSMA_IIA
4288 MKI67 KIA | MIB- | MIB-1 | PPP1R105 marker of proliferation Ki-67 10q26.2 CV:PGCnp
DNM:Fromer_2014
DNM:Gulsuner_2013
GSMA_IIA
CompositeSet
Ascano FMRP targets
8519 IFITM1 9-27 |CD225 |dspa2a |ifi17 |Leu13 interferon induced transmembrane protein 1 11P15.5 DMG:Montano_2016
Expression
PMID:cooccur
10410 IFITM3 1-8U | DSPA2b | IP15 interferon induced transmembrane protein 3 11P15.5 CV:PGCnp
DEG:Sanders_2013
Expression
PMID:cooccur
283120 H19 ASM | ASM1 | BWS | D11S813E | LINC00008 | NCRNA00008 | WT2 H19,印刷的母体表达的转录本(非蛋白质编码) 11P15.5 CV:PGCnp
PMID:cooccur
10581 IFITM2 1-8D |DSPA2C interferon induced transmembrane protein 2 11P15.5 Expression
PMID:cooccur
2237 FEN1 FEN-1 | MF1 | RAD2 flap structure-specific endonuclease 1 11q12 DMG:Nishioka_2013
DMG:Wockner_2014
PMID:cooccur
26579 MYEOV OCIM 骨髓瘤过表达 11q13 CV:GWASdb
CV:PGCnp
8061 FOSL1 FRA | FRA1 | fra-1 FOS like antigen 1 11q13 CV:PGCnp
DMG:Wockner_2014
PMID:cooccur
5017 OVOL1 HOVO1 ovo like zinc finger 1 11q13 CV:PGCnp
DMG:Wockner_2014
283131 Neat1 LINC00084 | NCRNA00084 | TncRNA | VINC nuclear paraspeckle assembly transcript 1 (non-protein coding) 11q13.1 CV:PGCnp
DMG:Wockner_2014
10072 DPP3 DPPIII dipeptidyl peptidase 3 11q13.2 CV:PGCnp
DMG:vanEijk_2014
Expression
Ascano FMRP targets
10008 kcne3 霍克普|hypp |mirp2 potassium voltage-gated channel subfamily E regulatory subunit 3 11q13.4 CV:PGCnp 兴奋性
10714 POLD3 P66 | P68 | PPP1R128 polymerase (DNA) delta 3, accessory subunit 11q14 CV:PGCnp
4314 MMP3 CHDS6 | MMP-3 | SL-1 | STMY | STMY1 | STR1 matrix metallopeptidase 3 11q22.3 PMID:cooccur
56649 TMPRSS4 CAPH2 | MT-SP2 | TMPRSS3 跨膜蛋白酶,丝氨酸4 11q23.3 CV:PGCnp
DMG:Wockner_2014
GO_Annotation
GSMA_I
3312 HSPA8 HEL-33 | HEL-S-72p | HSC54 | HSC70 | HSC71 | HSP71 | HSP73 | HSPA10 | LAP-1 | LAP1 | NIP71 heat shock protein family A (Hsp70) member 8 11q24.1 CV:PGCnp
DNM:Fromer_2014
Expression
GSMA_I
PMID:cooccur
RNA AND PROTEIN SYNTHESIS
CompositeSet
1111 CHEK1 CHK1 checkpoint kinase 1 11q24.2 CV:GWASdb
CV:PGCnp
Network
PMID:cooccur
55711 法2 HEL-S-81 | MLSTD1 | SDR10E2 fatty acyl-CoA reductase 2 12p11.22 CV:PGCnp
2984 GUCY2C DIAR6 | GUC2C | MECIL | MUCIL | STAR guanylate cyclase 2C 12p12 CV:PGCnp
9052 GPRC5A GPCR5A | PEIG-1 | RAI3 | RAIG1 | TIG1 G protein-coupled receptor class C group 5 member A 12p13.1 CV:PGCnp
DMG:Jaffe_2016
928 CD9 BTCC-1 | DRAP-27 | MIC3 | MRP-1 | TSPAN-29 | TSPAN29 CD9分子 12p13.3 CV:PGCnp
DMG:Wockner_2014
GO_Annotation
29127 RACGAP1 CYK4 | HsCYK-4 | ID-GAP | MgcRacGAP Rac GTPase activating protein 1 12q13.12 CV:GWASdb
CV:PGCnp
GO_Annotation
3855 KRT7 CK7 | K2C7 | K7 | SCL keratin 7 12q13.13 CV:PGCnp
DMG:Wockner_2014
PMID:cooccur
144455 E2F7 - E2F transcription factor 7 12q21.2 CV:PGCnp
DMG:Wockner_2014
80018 NAA25 C12orf30 | MDM20 | NAP1 N(alpha)-acetyltransferase 25, NatB auxiliary subunit 12q24.13 CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
10808 HSPH1 HSP105 | HSP105A | HSP105B | NY-CO-25 heat shock protein family H (Hsp110) member 1 13q12.3 CV:PGCnp RNA AND PROTEIN SYNTHESIS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Ascano FMRP targets
5983 RFC3 RFC38 复制因子C亚基3 13q13.2 CV:PGCnp
DMG:Jaffe_2016
26586 CKAP2 LB1 | TMAP | se20-10 cytoskeleton associated protein 2 13q14 CV:PGCnp
DMG:Jaffe_2016
DNM:Gulsuner_2013
8847 DLEU2 1B4 | BCMSUN | DLB2 | LEU2 | LINC00022 | MIR15AHG | NCRNA00022 | RFP2OS | TRIM13OS deleted in lymphocytic leukemia 2 (non-protein coding) 13q14.3 CV:PGCnp
DMG:Wockner_2014
Expression
PMID:cooccur
688 KLF5 BTEB2 | CKLF | IKLF Kruppel样因子5(肠) 13q22.1 Association
CV:PGCnp
PMID:cooccur
440145 MZT1 C13orf37 | MOZART1 有丝分裂主轴组织蛋白1 13q22.1 CV:PGCnp
7546 ZIC2 HPE5 Zic family member 2 13q32 CV:PGCnp
DMG:Jaffe_2016
GO_Annotation
PMID:cooccur
7027 TFDP1 DILC |DP1 |drtf1 |DP-1 transcription factor Dp-1 13q34 CV:PGCnp
DMG:Wockner_2014
23250 ATP11A atpih |阿特皮斯 ATPase phospholipid transporting 11A 13q34 CV:PGCnp
DMG:Wockner_2014
Expression
23263 MCF2L ARHGEF14 | DBS | OST MCF.2 cell line derived transforming sequence like 13q34 CV:PGCnp
DEG:Maycox_2009
DMG:Wockner_2014
55608 ANKRD10 - Ankyrin重复域10 13q34 CV:PGCnp
DMG:Jaffe_2016
DMG:Nishioka_2013
1033 CDKN3 CDI1 |CIP2 |kap |KAP1 cyclin-dependent kinase inhibitor 3 14q22 CV:GWAScat
CV:GWASdb
CV:PGCnp
DNM:Kranz_2015
PMID:cooccur
1396 CRIP1 CRHP | CRIP | CRP-1 | CRP1 cysteine rich protein 1 14q32.33 DMG:Wockner_2014
701 BUB1B BUB1beta | BUBR1 | Bub1A | MAD3L | MVA1 | SSK1 | hBUBR1 Bub1有丝分裂检查点丝氨酸/苏氨酸激酶B 15q15 CV:PGCnp
DMG:Jaffe_2016
256764 WDR72 AI2A3 WD repeat domain 72 15Q21.3 CV:PGCnp
PMID:cooccur
9133 CCNB2 HST17299 cyclin B2 15q22.2 CV:GWASdb
CV:PGCnp
9768 KIAA0101 L5 | NS5ATP9 | OEATC | OEATC-1 | OEATC1 | PAF | PAF15 | p15(PAF) | p15/PAF | p15PAF KIAA0101 15q22.31 CV:PGCnp
9640 ZNF592 CAMOS | SCAR5 zinc finger protein 592 15q25.3 CV:GWASdb
CV:PGCnp
Ascano FMRP targets
55215 FANCI KIAA1794 Fanconi anemia complementation group I 15q26.1 CV:PGCnp Ascano FMRP targets
9055 PRC1 ASE1 protein regulator of cytokinesis 1 15q26.1 CV:PGCnp
197335 WDR90 C16orf15 | C16orf16 | C16orf17 | C16orf18 | C16orf19 WD repeat domain 90 16p13.3 CV:PGCnp
PMID:cooccur
90861 HN1L C16orf34 | L11 hematological and neurological expressed 1-like 16p13.3 CV:PGCnp
DMG:Wockner_2014
51659 GINS2 HSPC037 |PSF2 |PFS2 GINS complex subunit 2 (Psf2 homolog) 16q24.1 CV:PGCnp
1366 Cldn7 CEPTRL2 | CLDN-7 | CPETRL2 | Hs.84359 | claudin-1 克劳丁7 17p13.1 CV:PGCnp
GO_Annotation
26574 AATF BFR2 | CHE-1 | CHE1 | DED apoptosis antagonizing transcription factor 17q12 CNV:YES
CV:PGCnp
DMG:Jaffe_2016
51755 CDK12 CRK7 | CRKR | CRKRS cyclin-dependent kinase 12 17q12 CV:PGCnp
DMG:Jaffe_2016
GO_Annotation
672 BRCA1 BRCAI | BRCC1 | BROVCA1 | FANCS | IRIS | PNCA4 | PPP1R53 | PSCP | RNF53 breast cancer 1 17q21 CV:PGCnp
DMG:Wockner_2014
Network
PMID:cooccur
3728 JUP ARVD12 | CTNNG | DP3 | DPIII | PDGB | PKGB junction plakoglobin 17q21 CV:GWASdb
CV:PGCnp
DMG:Jaffe_2016
Network
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
7153 TOP2A TOP2 | TP2A 拓扑异构酶(DNA)IIα 17q21.2 CV:PGCnp
Network
PMID:cooccur
Ascano FMRP targets
6605 SMARCE1 BAF57 SWI/SNF相关,矩阵相关,染色质的肌动蛋白依赖性调节剂,亚家族E,成员1 17q21.2 CV:PGCnp
Network
PMID:cooccur
Chromatin Remodeling Genes
4830 NME1 AWD |GAAD |NB |NBS |ndka |NDPK-A |ndpka |NM23 |NM23-H1 NME/NM23核苷双磷酸激酶1 17q21.3 CV:PGCnp CELL METABOLISM
CompositeSet
1659 DHX8 DDX8 | HRH1 | PRP22 | PRPF22 DEAH-box helicase 8 17q21.31 DMG:vanEijk_2014
DNM:Xu_2012
CompositeSet
Ascano FMRP targets
9343 EFTUD2 MFDGA | MFDM | SNRNP116 | Snrp116 | Snu114 | U5-116KD elongation factor Tu GTP binding domain containing 2 17q21.31 CV:PGCnp
DMG:Jaffe_2016
DNM:Fromer_2014
CompositeSet
Ascano FMRP targets
2896 GRN Cln11 |GEP |GP88 |PCDGF |pepi |PGRN granulin 17q21.32 CV:PGCnp
PMID:cooccur
55771 PRR11 - proline rich 11 17q22 CV:PGCnp
Expression
83990 BRIP1 BACH1 | FANCJ | OF BRCA1 interacting protein C-terminal helicase 1 17q22.2 CV:PGCnp
DMG:Nishioka_2013
84733 CBX2 CDCA6 | M33 | SRXY5 chromobox 2 17q25.3 CV:GWASdb
CV:PGCnp
Expression
Ascano FMRP targets
Chromatin Remodeling Genes
6597 SMARCA4 BAF190 | BAF190A | BRG1 | MRD16 | RTPS2 | SNF2 | SNF2L4 | SNF2LB | SWI2 | hSNF2b SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19p13.2 CV:PGCnp
DMG:Nishioka_2013
DMG:vanEijk_2014
GO_Annotation
Network
PMID:cooccur
CompositeSet
Darnell FMRP targets
Ascano FMRP targets
Chromatin Remodeling Genes
29128 UHRF1 ICBP90 | Np95 | RNF106 | TDRD22 | hNP95 | hUHRF1 | huNp95 ubiquitin like with PHD and ring finger domains 1 19p13.3 CV:PGCnp
DMG:Wockner_2014
898 CCNE1 CCNE | pCCNE1 cyclin E1 19q12 CV:PGCnp
DMG:Montano_2016
Network
5655 KLK10 NES1 |PRSSL1 kallikrein related peptidase 10 19q13 DMG:Jaffe_2016
DMG:Wockner_2014
GO_Annotation
1155 TBCB CG22 | CKAP1 | CKAPI tubulin folding cofactor B 19Q13.11-Q13.12 CV:PGCnp
DMG:Jaffe_2016
GO_Annotation
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
CompositeSet
92799 SHKBP1 PP203 | Sb1 SH3KBP1 binding protein 1 19q13.2 CV:PGCnp
DMG:Wockner_2014
DNM:Fromer_2014
CompositeSet
3276 PRMT1 ANM1 | HCP1 | HRMT1L2 | IR1B4 protein arginine methyltransferase 1 19q13.3 CV:PGCnp Chromatin Remodeling Genes
5653 KLK6 BSSP |KLK7 |prss18 |prss9 |SP59 |HK6 kallikrein related peptidase 6 19q13.3 CV:PGCnp
GO_Annotation
PMID:cooccur
79084 WDR77 hkmt1069 |MEP-50 |MEP50 |NBLA10071 |P44 |P44/MEP50 WD repeat domain 77 1p13.2 CV:PGCnp
Expression
GSMA_I
29899 GPSM2 CMCS |DFNB82 |lgn |别针 G-protein signaling modulator 2 1p13.3 CV:PGCnp
DMG:Wockner_2014
Network
Potential synaptic genes
8880 FUBP1 FBP |fubp |HDH v far upstream element binding protein 1 1p31.1 CV:PGCnp
GSMA_IIA
55635 DEPDC1 dep.8 |DEPDC1-V2 |depdc1a |SDP35 DEP domain containing 1 1p31.2 CV:PGCnp
DMG:Nishioka_2013
Expression
GSMA_IIA
7804 LRP8 APOER2 | HSZ75190 | LRP-8 | MCI1 LDL受体相关蛋白8 134 CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
Network
PMID:cooccur
CompositeSet
Darnell FMRP targets
Potential synaptic genes
991 CDC20 CDC20A | bA276H19.3 | p55CDC cell division cycle 20 134.1 CV:PGCnp
Network
PMID:cooccur
2048 EPHB2 CAPB | DRT | EK5 | EPHT3 | ERK | Hek5 | PCBC | Tyro5 EPH receptor B2 1p36.1-p35 CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
GO_Annotation
Network
Potential synaptic genes
55450 CAMK2N1 Pro1489 calcium/calmodulin-dependent protein kinase II inhibitor 1 1p36.12 CV:PGCnp
DMG:vanEijk_2014
GO_Annotation
INTRACELLULAR SIGNAL TRANSDUCTION
5-羟色胺
CompositeSet
Darnell FMRP targets
51154 MRTO4 C1orf33 |MRT4 |DJ657E11.4 MRT4 homolog, ribosome maturation factor 1p36.13 CV:PGCnp
DMG:Jaffe_2016
2023 ENO1 ENO1L1 | HEL-S-17 | MPB1 | NNE | PPH enolase 1, (alpha) 1p36.2 CV:PGCnp
DMG:Wockner_2014
GO_Annotation
CELL METABOLISM
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
9903 KLHL21 - kelch like family member 21 1p36.31 CV:PGCnp Ascano FMRP targets
6277 S100A6 2A9 | 5B10 | CABP | CACY | PRA S100 calcium binding protein A6 1q21 CV:PGCnp
GO_Annotation
GSMA_I
GSMA_IIA
PMID:cooccur
6281 S100A10 42 c | ANX2L | ANX2LG | CAL1L | CLP11 | Ca [1] | GP1中1 | P11 | p10 S100钙结合蛋白A10 1q21 CV:PGCnp
DEG:Sanders_2013
GO_Annotation
GR_Ng
GSMA_I
GSMA_IIA
PMID:cooccur
6282 S100A11 HEL-S-43 | MLN70 | S100C S100钙结合蛋白A11 1q21 CV:PGCnp
GO_Annotation
GSMA_I
GSMA_IIA
PMID:cooccur
1163 CKS1B CKS1 | PNAS-16 | PNAS-18 | ckshs1 CDC28 protein kinase regulatory subunit 1B 1q21.2 CV:PGCnp
DMG:Nishioka_2013
GSMA_I
GSMA_IIA
5202 PFDN2 PFD2 prefoldin subunit 2 1q23.3 CV:PGCnp
DMG:Jaffe_2016
GSMA_IIA
259266 ASPM ASP | Calmbp1 | MCPH5 abnormal spindle microtubule assembly 1q31 CV:PGCnp
GO_Annotation
PMID:cooccur
1116 CHI3L1 ASRT7 | CGP-39 | GP-39 | GP39 | HC-gp39 | HCGP-3P | YKL-40 | YKL40 | YYL-40 | hCGP-39 chitinase 3 like 1 1q32.1 Association
CV:GWASdb
CV:PGCnp
DMG:Wockner_2014
Expression
GR_Ng
GR_WM
PMID:cooccur
9928 KIF14 MKS12 kinesin family member 14 1q32.1 CV:PGCnp
DNM:Fromer_2014
CompositeSet
5629 PROX1 - prospero homeobox 1 1q41 CV:GWASdb
CV:PGCnp
PMID:cooccur
84284 ntpcr C1orf57 | HCR-NTPase nucleoside-triphosphatase,癌症相关 1q42.2 CV:PGCnp
3192 HNRNPU hnrnpu-as1 |hnrpu |SAF-A |Safa |U21.1 |hnrnp u heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 1q44 DMG:Jaffe_2016
26090 ABHD12 ABHD12A | BEM46L2 | C20orf22 | PHARC | dJ965G21.2 含12个 20P11.21 CV:PGCnp
DMG:Jaffe_2016
DNM:Fromer_2014
Expression
CompositeSet
83959 SLC4A11 BTR1 | CDPD1 | CHED2 | NABC1 | dJ794I6.2 solute carrier family 4 member 11 20p12 CV:PGCnp
DMG:Wockner_2014
10528 NOP56 NOL5A | SCA36 NOP56ribonucleoprotein 20p13 CV:PGCnp
6628 SNRPB CCMS | COD | SNRPB1 | Sm-B/B' | SmB/B' | SmB/SmB' | snRNP-B small nuclear ribonucleoprotein polypeptides B and B1 20p13 CV:PGCnp
DMG:Jaffe_2016
DMG:Wockner_2014
3420 IDH3B H-IDHB | RP46 isocitrate dehydrogenase 3 (NAD+) beta 20p13 CV:PGCnp
Expression
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_mitochondria
G2Cdb.humanPSD
G2Cdb.humanPSP
2937 GSS GSHS | HEL-S-64p | HEL-S-88n glutathione synthetase 20q11.2 Association
CV:PGCnp
GO_Annotation
GR_Ng
GR_WM
PMID:cooccur
1434 CSE1L cas |CSE1 |XPO2 CSE1 chromosome segregation 1-like (yeast) 20q13 CV:PGCnp
DMG:vanEijk_2014
Network
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL
G2CDB.HUMANNRC
CompositeSet
11065 UBE2C UBCH10 | dJ447F3.2 ubiquitin conjugating enzyme E2 C 20q13.12 CV:PGCnp
DMG:Wockner_2014
5266 PI3 Esi |skalp |WAP3 |WFDC14 |水泥 peptidase inhibitor 3 20q13.12 CV:PGCnp
PMID:cooccur
7022 TFAP2C AP2-GAMMA | ERF1 | TFAP2G | hAP-2g transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 20q13.2 CV:PGCnp
DMG:Wockner_2014
3911 LAMA5 - laminin subunit alpha 5 20q13.2-q13.3 CV:PGCnp
DMG:Wockner_2014
PMID:cooccur
6227 RPS21 HLDF |S21 ribosomal protein S21 20q13.3 CV:PGCnp
DMG:Nishioka_2013
861 RUNX1 AML1 | AML1-EVI-1 | AMLCR1 | CBF2alpha | CBFA2 | EVI-1 | PEBP2aB | PEBP2alpha runt related transcription factor 1 21q22.3 CV:PGCnp
DMG:Jaffe_2016
DMG:Wockner_2014
PMID:cooccur
637 出价 FP497 BH3 interacting domain death agonist 22q11.1 Expression
GO_Annotation
GSMA_I
PMID:cooccur
5902 RANBP1 HTF9A RAN binding protein 1 22q11.21 Association
CNV:YES
CV:PGCnp
DMG:Jaffe_2016
GR_WM
GSMA_I
Network
PMID:cooccur
3976 LIF CDF | DIA | HILDA | MLPLI leukemia inhibitory factor 22q12.2 CV:PGCnp
GSMA_I
PMID:cooccur
79019 CENPM C22orf18 | CENP-M | PANE1 Centromere蛋白m 22q13.2 CV:PGC128
CV:PGCnp
85358 SHANK3 DEL22q13.3 | PROSAP2 | PSAP2 | SCZD15 | SPANK-2 SH3 and multiple ankyrin repeat domains 3 22q13.3 CV:PGCnp
DMG:Wockner_2014
DNM:Awadalla_2010
GO_Annotation
PMID:cooccur
蛋白质聚类
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Potential synaptic genes
400931 mirlet7bhg linc-Ppara MIRLET7B host gene 22q13.31 CV:PGCnp
27436 EML4 C2orf2 |ELP120 |EMAP-4 |EMAPL4 |ROPP120 echinoderm microtubule associated protein like 4 2p21 CV:PGCnp
DMG:Wockner_2014
GO_Annotation
1058 Cenpa CENP-A | CenH3 centromere protein A 2p23.3 CV:PGCnp
699 BUB1 BUB1A | BUB1L | hBUB1 BUB1 mitotic checkpoint serine/threonine kinase 2Q14 CV:PGCnp
DMG:Jaffe_2016
GSMA_I
GSMA_IIA
83879 CDCA7 JPO1 cell division cycle associated 7 2q31 CV:PGCnp
DNM:Fromer_2014
CompositeSet
2571 GAD1 CPSQ1 | GAD | SCP 谷氨酸脱羧酶1 2q31 Association
Core
CV:PGCnp
GO_Annotation
GR_COR
GR_Ng
GR_WM
Network
PMID:cooccur
G2Cdb.humanPSD
G2Cdb.humanPSP
151246 SGOL2 SGO2 | TRIPIN shugoshin-like 2 (S. pombe) 2q33.1 CV:PGCnp
Network
580 BARD1 - BRCA1 associated RING domain 1 2q35 CV:PGCnp
GSMA_IIA
GSMA_IIE
Network
PMID:cooccur
5757 PTMA TMSA prothymosin, alpha 2q37.1 CV:PGCnp
DMG:Jaffe_2016
55054 ATG16L1 APG16L |ATG16A |ATG16L |IBD10 |WDR30 autophagy related 16 like 1 2q37.1 CV:PGCnp
DMG:Wockner_2014
G2CDB.HUMANNRC
55164 SHQ1 Grim-1 |SHQ1P SHQ1,H/ACA核糖核蛋白组装因子 3P13 CV:GWASdb
CV:PGCnp
GSMA_IIA
GSMA_IIE
1294 COL7A1 EBD1 | EBDCT | EBR1 | NDNC8 collagen type VII alpha 1 3p21.1 CV:PGCnp
10675 CSPG5 NGC 硫酸软骨素蛋白聚糖5 3p21.3 CV:PGCnp
DMG:Wockner_2014
GO_Annotation
PMID:cooccur
CELL ADHESION AND TRANSSYNAPTIC SIGNALING
25907 TMEM158 BBP | RIS1 | p40BBP transmembrane protein 158 (gene/pseudogene) 3p21.3 CV:PGCnp
64147 KIF9 - kinesin family member 9 3P21.31 CV:PGCnp
DMG:Jaffe_2016
Expression
63891 RNF123 FP1477 |KPC1 ring finger protein 123 3p24.3 CV:PGCnp
DMG:Jaffe_2016
4071 TM4SF1 H-L6 |L6 |M3S1 |taal6 transmembrane 4 L six family member 1 3Q21-Q25 DMG:Wockner_2014
56667 MUC13 DRCC1 |MUC-13 mucin 13, cell surface associated 3q21.2 CV:PGCnp
5918 RARRES1 LXNL | PERG-1 | TIG1 retinoic acid receptor responder (tazarotene induced) 1 3q25.32 CV:PGCnp
DMG:Wockner_2014
1894 ECT2 ARHGEF31 上皮细胞转化2 3q26.1-q26.2 CV:PGCnp
4026 LPP - LIM domain containing preferred translocation partner in lipoma 3q28 CV:GWASdb
CV:PGCnp
CV:PheWAS
PMID:cooccur
9076 cldn1 CLD1 | ILVASC | SEMP1 克劳丁1 3q28-q29 CV:GWAScat
CV:GWASdb
CV:PGCnp
GO_Annotation
PMID:cooccur
22916 NCBP2 CBC2 |CBP20 |NIP1 |PIG55 nuclear cap binding protein subunit 2 3q29 CNV:YES
CV:PGCnp
DMG:Jaffe_2016
DMG:Nishioka_2013
64151 NCAPG capg |CHCG |NY-MEL-3 |YCG1 non-SMC condensin I complex subunit G 4P15.33 CV:PGCnp Ascano FMRP targets
55646 LYAR ZC2HC2 | ZLYAR LY1抗体反应性 4P16.3 CV:PGCnp
10815 CPLX1 CPX-I | CPX1 复合素1 4P16.3 CV:PGCnp
GO_Annotation
PMID:cooccur
EXOCYTOSIS
CompositeSet
Darnell FMRP targets
7468 WHSC1 MMSET | NSD2 | REIIBP | TRX5 | WHS Wolf-Hirschhorn syndrome candidate 1 4P16.3 CV:PGCnp
DMG:Wockner_2014
Chromatin Remodeling Genes
10874 NMU - neuromedin U 4Q12 CV:PGCnp
DMG:Wockner_2014
GO_Annotation
2919 CXCL1 FSP | GRO1 | GROa | MGSA | MGSA-a | NAP-3 | SCYB1 C-X-C motif chemokine ligand 1 4Q21 CV:PGCnp
GO_Annotation
PMID:cooccur
2921 CXCL3 CINC-2b | GRO3 | GROg | MIP-2b | MIP2B | SCYB3 C-X-C motif chemokine ligand 3 4Q21 CV:PGCnp
DMG:Jaffe_2016
6696 SPP1 BNSP | BSPI | ETA-1 | OPN 分泌的磷蛋白1 4q22.1 CV:PGCnp
CV:PheWAS
79807 GSTCD - glutathione S-transferase C-terminal domain containing 4Q24 CV:PGCnp
4085 MAD2L1 HSMAD2 |MAD2 MAD2mitotic arrest deficient-like 1 (yeast) 4Q27 CV:PGCnp
DMG:Jaffe_2016
6502 SKP2 FBL1 | FBXL1 | FLB1 | p45 S期激酶相关蛋白2,E3泛素蛋白连接酶 5p13 CV:PGCnp
10016 PDCD6 ALG-2 | ALG2 | PEF1B programmed cell death 6 5p15.33 CV:PGCnp
DMG:Wockner_2014
Network
55722 CEP72 - centrosomal protein 72kDa 5p15.33 CV:PGCnp
DMG:Montano_2016
Ascano FMRP targets
3673 itga2 br |CD49B |GPIA |HPA-5 |VLA-2 |vlaa2 integrin subunit alpha 2 5q11.2 CV:PGCnp
DMG:Jaffe_2016
DMG:Montano_2016
Ascano FMRP targets
55789 DEPDC1B BRCC3 | XTP1 包含1B的DEP域 5q12.1 CV:PGCnp
7518 XRCC4 SSMED X-ray repair complementing defective repair in Chinese hamster cells 4 5Q14.2 CV:PGCnp
DMG:Nishioka_2013
PMID:cooccur
9782 MATR3 ALS21 | MPD2 | VCPDM 矩阵3 5q31.2 CV:PGCnp
DEG:Sanders_2013
GSMA_I
Network
3161 HMMR CD168 | IHABP | RHAMM hyaluronan mediated motility receptor 5q34 CV:PGCnp
DMG:vanEijk_2014
GSMA_IIA
GSMA_IIE
4869 NPM1 B23 | NPM nucleophosmin (nucleolar phosphoprotein B23, numatrin) 5q35.1 CV:PGCnp
GSMA_IIA
Network
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL
4488 MSX2 CRS2 | FPP | HOX8 | MSH | PFM | PFM1 msh homeobox 2 5q35.2 CV:PGCnp
GSMA_IIA
PMID:cooccur
51491 NOP16 HSPC111 | HSPC185 NOP16核仁蛋白 5q35.2 CV:PGCnp
2161 F12 HAE3 | HAEX | HAF coagulation factor XII 5q35.3 CV:PGCnp
GO_Annotation
GR_Ng
GSMA_IIA
PMID:cooccur
3159 HMGA1 HMG-R |HMGA1A |hmgiy high mobility group AT-hook 1 6p21 CV:GWASdb
CV:PGCnp
DMG:Jaffe_2016
GSMA_I
GSMA_IIE
57510 XPO5 EXP5 导出5 6p21.1 CV:PGCnp
DMG:vanEijk_2014
DMG:Wockner_2014
GSMA_IIE
Ascano FMRP targets
705 BYSL BYSTIN bystin like 6p21.1 CV:PGCnp
DMG:Jaffe_2016
GSMA_I
GSMA_IIE
11074 TRIM31 C6orf13 |HCG1 |HCGI |RNF 包含31的三方图案 6p21.3 CV:GWASdb
CV:PGCnp
GSMA_I
7407 VARS G7A | VARS1 | VARS2 valyl-tRNA synthetase 6p21.3 CV:PGCnp
GSMA_I
Network
PMID:cooccur
Ascano FMRP targets
5696 PSMB8 ALDD | D6S216 | D6S216E | JMP | LMP7 | NKJO | PSMB5i | RING10 蛋白酶体亚基Beta 8 6p21.3 CV:GWASdb
CV:PGCnp
DMG:Jaffe_2016
DMG:Montano_2016
GSMA_I
221656 KDM1B AOF1 | C6orf193 | LSD2 | bA204B7.3 | dJ298J15.2 lysine demethylase 1B 6p22.3 CV:GWASdb
CV:PGCnp
GSMA_I
Chromatin Remodeling Genes
7020 TFAP2A AP-2 | AP-2alpha | AP2TF | BOFS | TFAP2 transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 6p24 CV:PGCnp
DMG:Wockner_2014
GSMA_I
Network
56897 WRNIP1 鞭子|BA420G6.2 Werner解旋酶相互作用蛋白1 6p25.2 CV:PGCnp
DMG:Jaffe_2016
GSMA_I
Ascano FMRP targets
7272 TTK CT96 | ESK | MPH1 | MPS1 | MPS1L1 | PYT TTK蛋白激酶 6q14.1 CV:PGCnp
DNM:Fromer_2014
CompositeSet
4602 MYB CMYB |c-myb |c-myb_cds |EFG MYB proto-oncogene, transcription factor 6q22-q23 CV:PGCnp
PMID:cooccur
387103 cenpw C6orf173 |CENP-W |CUG2 Centromere蛋白W 6q22.32 CV:PGCnp
DMG:Jaffe_2016
389432 SAMD5 dJ875H10.1 sterile alpha motif domain containing 5 6q24.3 CV:GWASdb
CV:PGCnp
Expression
25902 MTHFD1L FTHFSDC1 | MTC1THFS | dJ292B18.2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 6q25.1 CV:PGCnp Ascano FMRP targets
6648 SOD2 IPOB |mnsod |MVCD6 superoxide dismutase 2, mitochondrial 6q25.3 Association
CV:PGCnp
PMID:cooccur
G2CDB.HUMAN_CLATHRIN
G2Cdb.human_mitochondria
G2Cdb.human_Synaptosome
G2Cdb.humanPSD
G2Cdb.humanPSP
63979 Fignl1 - fidgetin like 1 7p12.1 CV:PGCnp
DMG:Wockner_2014
6100 RP9 PAP-1 | PAP1 retinitis pigmentosa 9 (autosomal dominant) 7p14.3 DMG:Jaffe_2016
3624 INHBA EDF | FRP inhibin beta A 7p15-p13 CV:PGCnp
GO_Annotation
3205 HOXA9 ABD-B | HOX1 | HOX1.7 | HOX1G homeobox A9 7p15.2 DMG:Wockner_2014
3206 HOXA10 HOX1 | HOX1.8 | HOX1H | PL Homeobox A10 7p15.2 DMG:Jaffe_2016
56164 STK31 SGK396 |TDRD8 serine/threonine kinase 31 7p15.3 CV:PGCnp
84629 TNRC18 CAGL79 | TNRC18A trinucleotide repeat containing 18 7p22.1 CV:GWASdb
CV:PGCnp
DMG:Jaffe_2016
DMG:Wockner_2014
DNM:Fromer_2014
CompositeSet
Darnell FMRP targets
Ascano FMRP targets
8662 EIF3B EIF3-ETA |EIF3-P110 |EIF3-P116 |EIF3S9 |PRT1 eukaryotic translation initiation factor 3 subunit B 7p22.3 CV:PGCnp
DNM:Guipponi_2014
Ascano FMRP targets
51351 ZNF117 H-plk | HPF9 zinc finger protein 117 7Q11.21 CV:PGCnp
DMG:Wockner_2014
441263 DTX2P1-UPK3BP1-PMS2P11 PMS2L11 dtx2p1-upk3bp1-pms2p11读取,转录的假基因 7q11.23 CV:GWASdb
CV:PGCnp
55695 NSUN5 NOL1 |nol1r |NSUN5A |WBSCR20 |WBSCR20A |P120 |P120(NOL1) NOP2/太阳RNA甲基转移酶家族成员5 7q11.23 CNV:YES
1365 Cldn3 C7orf1 | CPE-R2 | CPETR2 | HRVP1 | RVP1 克劳丁3 7q11.23 CNV:YES
CV:PGCnp
GO_Annotation
83451 ABHD11 PP1226 | WBSCR21 含11个 7q11.23 CNV:YES
CV:PGCnp
DMG:Nishioka_2013
3315 HSPB1 CMT2F |HEL-S-102 |HMN2B |HS.76067 |HSP27 |HSP28 |HSP25 |SRP27 heat shock protein family B (small) member 1 7q11.23 CV:PGCnp
Network
PMID:cooccur
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
1021 CDK6 MCPH12 | PLSTIRE cyclin-dependent kinase 6 7q21-q22 CV:PGCnp
DMG:Jaffe_2016
GO_Annotation
Network
PMID:cooccur
4176 MCM7 CDC47 | MCM2 | P1.1-MCM3 | P1CDC47 | P85MCM | PNAS146 | PPP1R104 minichromosome maintenance complex component 7 7q21.3-q22.1 DMG:Nishioka_2013
DMG:vanEijk_2014
Network
PMID:cooccur
Ascano FMRP targets
10248 POP7 0610037N12Rik | RPP2 | RPP20 POP7homolog, ribonuclease P/MRP subunit 7q22 CV:PGCnp
54517 PUS7 - 伪啶基合酶7(推定) 7q22.3 CV:PGCnp
1080 CFTR ABC35 | ABCC7 | CF | CFTR/MRP | MRP7 | TNR-CFTR | dJ760C5.1 cystic fibrosis transmembrane conductance regulator 7q31.2 CV:PGCnp
Expression
Network
PMID:cooccur
2146 EZH2 ENX-1 |enx1 |ezh1 |EZH2B |KMT6 |KMT6A |WVS |WVS2 enhancer of zeste 2 polycomb repressive complex 2 subunit 7q35-Q36 CV:PGCnp
DMG:Wockner_2014
Network
Chromatin Remodeling Genes
54892 NCAPG2 CAP-G2 | CAPG2 | LUZP5 | MTB | hCAP-G2 non-SMC condensin II complex subunit G2 7q36.3 CV:PGCnp
DMG:Wockner_2014
80139 ZNF703 NLZ1 | ZEPPO1 | ZNF503L | ZPO1 锌指蛋白703 8p11.23 CV:PGCnp
157570 ESCO2 2410004i17rik |efo2 |皇家银行 establishment of sister chromatid cohesion N-acetyltransferase 2 8p21.1 CV:PGCnp
DNM:Fromer_2014
GSMA_I
GSMA_IIA
GSMA_IIE
CompositeSet
55872 PBK CT84 | HEL164 | Nori-3 | SPK | TOPK PDZ binding kinase 8p21.2 CV:PGCnp
GSMA_I
GSMA_IIA
GSMA_IIE
Network
1508 CTSB 应用|CPSB cathepsin B 8p22 CV:PGCnp
DMG:Jaffe_2016
DMG:Wockner_2014
Network
2055 CLN8 C8orf61 | EPMR ceroid-lipofuscinosis, neuronal 8 8p23 CV:PGCnp
DMG:Wockner_2014
GO_Annotation
137695 TMEM68 - transmembrane protein 68 8q12.1 CV:PGCnp
DMG:Jaffe_2016
8836 GGH GH gamma-glutamyl hydrolase 8q12.3 CV:PGCnp
DMG:Jaffe_2016
23212 RRS1 - 核糖体生物发生调节剂同源物 8q13.1 CV:PGCnp
56704 JPH1 CMT2K | JP-1 | JP1 junctophilin 1 8q21 CV:PGCnp
28957 MRPS28 HSPC007 | MRP-S28 | MRP-S35 | MRPS35 mitochondrial ribosomal protein S28 8q21.1-q21.2 CV:PGCnp
DEG:Maycox_2009
25788 RAD54B RDH54 RAD54 homolog B (S. cerevisiae) 8q22.1 CV:PGCnp
DMG:Nishioka_2013
54704 PDP1 PDH |PDP |PDPC |ppm2a |ppm2c 丙酮酸脱基酸酯酶磷酸酶催化亚基1 8q22.1 CV:PGCnp
DMG:Wockner_2014
25879 DCAF13 GM83 | HSPC064 | WDSOF1 DDB1 and CUL4 associated factor 13 8q22.3 CV:PGCnp Ascano FMRP targets
114907 FBXO32 FBX32 |MAFBX F-box protein 32 8q24.13 CV:PGCnp
DEG:Sanders_2013
DMG:vanEijk_2014
Expression
65265 C8orf33 - chromosome 8 open reading frame 33 8q24.3 DMG:Jaffe_2016
286077 FAM83H AI3 具有序列相似性的家族83成员h 8q24.3 CV:PGCnp
6132 RPL8 L8 ribosomal protein L8 8q24.3 CV:PGCnp
DMG:Nishioka_2013
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
CompositeSet
23513 SCRIB CRIB1 | SCRB1 | SCRIB1 | Vartul 涂鸦平面细胞极性蛋白 8q24.3 CV:PGCnp
DMG:Nishioka_2013
DMG:vanEijk_2014
DMG:Wockner_2014
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
Ascano FMRP targets
83481 EPPK1 EPIPL | EPIPL1 epiplakin 1 8q24.3 CV:PGCnp
DNM:Fromer_2014
CompositeSet
Ascano FMRP targets
1537 CYC1 MC3DN6 | UQCR4 cytochrome c1 8q24.3 DMG:vanEijk_2014
DMG:Wockner_2014
G2Cdb.human_mitochondria
G2Cdb.humanPSD
G2Cdb.humanPSP
28991 COMMD5 HCARG | HT002 包含5的通信域 8q24.3 CV:PGCnp
DMG:Jaffe_2016
DMG:Wockner_2014
9833 MELK HPK38 maternal embryonic leucine zipper kinase 9p13.2 CV:PGCnp
1164 CKS2 ckshs2 CDC28 protein kinase regulatory subunit 2 9q22 CV:PGCnp
DMG:Jaffe_2016
9128 PRPF4 HPRP4 |HPRP4P |prp4 |prp4p |RP70 |SNRNP60 pre-mRNA processing factor 4 9q31-q33 CV:PGCnp
Network
Ascano FMRP targets
3934 LCN2 24p3 | MSFI | NGAL | p25 lipocalin 2 9q34 PMID:cooccur
6709 SPTAN1 EIEE5 | NEAS | SPTA2 光谱alpha,非肉眼1 9q34.11 Network
PMID:cooccur
STRUCTURAL PLASTICITY
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
CompositeSet
Darnell FMRP targets
Ascano FMRP targets
Potential synaptic genes
389792 IER5L BA247A12.2 immediate early response 5-like 9q34.11 CV:PGCnp
138428 ptrh1 C9orf115 | PTH1 肽基-TRNA水解酶1同源物 9q34.11 DMG:Jaffe_2016


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