Summary?
GeneID 4154
Symbol MBNL1
Synonyms EXP|MBNL
Description muscleblind like splicing regulator 1
Reference MIM:606516|HGNC:HGNC:6923|Ensembl:ENSG00000152601|HPRD:07355|Vega:OTTHUMG00000159163
Gene type protein-coding
Map location 3q25
Pascal p-value 0.022
Fetal beta -1.512
eGene Meta

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur High-throughput literature-search Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 3

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC:sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
HACE1 0.81 0.81
NHLRC3 0.81 0.79
EZH1 0.79 0.79
IFT80 0.79 0.79
PDCD6IP 0.79 0.79
MFSD8 0.78 0.78
KRIT1 0.78 0.78
MON2 0.78 0.80
ZDHHC17 0.78 0.78
ATR 0.77 0.78
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
AF347015.21 -0.54 -0.42
IL32 -0.53 -0.45
CLEC3B -0.52 -0.54
HIGD1B -0.52 -0.47
METRN -0.52 -0.50
C1orf61 -0.51 -0.54
C16orf74 -0.50 -0.48
AC098691.2 -0.50 -0.47
IFI27 -0.50 -0.43
CSAG1 -0.50 -0.43

Section III. Gene Ontology annotation

Molecular function 去term Evidence Neuro keywords PubMed ID
GO:0003676 nucleic acid binding IEA -
GO:0003725 double-stranded RNA binding IDA 10970838
GO:0008270 zinc ion binding IEA -
GO:0046872 metal ion binding IEA -
Biological process 去term Evidence Neuro keywords PubMed ID
GO:0007519 skeletal muscle development IEA neuron (GO term level: 8) -
GO:0007399 nervous system development IEA neurite (GO term level: 5) -
GO:0007399 nervous system development ISS neurite (GO term level: 5) -
GO:0001701 in utero embryonic development IEA -
GO:0001701 in utero embryonic development ISS -
GO:0006376 mRNA splice site selection IEA -
GO:0007517 muscle development IEA -
GO:0007517 muscle development ISS -
GO:0030326 embryonic limb morphogenesis IEA -
GO:0030326 embryonic limb morphogenesis ISS -
GO:0045445 myoblast differentiation IEA -
GO:0045445 myoblast differentiation ISS -
Cellular component 去term Evidence Neuro keywords PubMed ID
GO:0005634 nucleus IDA 10970838
GO:0005737 cytoplasm IDA 10970838

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
ONKEN UVEAL MELANOMA DN 526 357 All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 UP 408 247 All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LIVE UP 485 293 All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL DN 455 30.4 All SZGR 2.0 genes in this pathway
HORIUCHI WTAP TARGETS DN 310 188 All SZGR 2.0 genes in this pathway
WANG CLIM2 TARGETS DN 186 114 All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER UP 404 246 All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 UP 380 236 All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 UP 418 263 All SZGR 2.0 genes in this pathway
UDAYAKUMAR MED1 TARGETS UP 135 82 All SZGR 2.0 genes in this pathway
SENESE HDAC1 TARGETS UP 457 269 All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP 501 327 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED UP 633 376 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805 505 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC UP 722 443 All SZGR 2.0 genes in this pathway
CHOW RASSF1 TARGETS UP 27 17 All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE DN 485 334 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 2A DN 141 84 All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174 695 All SZGR 2.0 genes in this pathway
SEIDEN ONCOGENESIS BY MET 88 53 All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN 712 443 All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855 609 All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483 336 All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS DN 124 79 All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 1652 1023 All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442 892 All SZGR 2.0 genes in this pathway
LIAO METASTASIS 539 324 All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775 494 All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 40 HELA 42 29 All SZGR 2.0 genes in this pathway
ROSS AML WITH MLL FUSIONS 78 45 All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION 405 264 All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408 274 All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 10 30. 17 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR DN 101 70 All SZGR 2.0 genes in this pathway
SUZUKI RESPONSE TO TSA 22 8 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5 482 296 All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491 310 All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022 619 All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229 713 All SZGR 2.0 genes in this pathway
ZHENG FOXP3 TARGETS IN THYMUS UP 196 137 All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION DN 281 179 All SZGR 2.0 genes in this pathway
FUJII YBX1 TARGETS DN 202 132 All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN DN 249 165 All SZGR 2.0 genes in this pathway
EHLERS ANEUPLOIDY UP 41 29 All SZGR 2.0 genes in this pathway
ROSS LEUKEMIA WITH MLL FUSIONS 78 49 All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS UP 518 299 All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 16 26 17 All SZGR 2.0 genes in this pathway
YAGI AML WITH 11Q23 REARRANGED 351 238 All SZGR 2.0 genes in this pathway
FONTAINE FOLLICULAR THYROID ADENOMA UP 75 43 All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277 172 All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103 714 All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS CALB1 CORR UP 548 370 All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS UP 504 321 All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 2 DN 336 211 All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN 918 550 All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824 528 All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882 506 All SZGR 2.0 genes in this pathway
DELACROIX RARG BOUND MEF 367 231 All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN 784 464 All SZGR 2.0 genes in this pathway
RATTENBACHER BOUND BY CELF1 467 251 All SZGR 2.0 genes in this pathway
LIM乳腺干细胞 489 314 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-101 1607 1614 1A,m8 hsa-miR-101 UACAGUACUGUGAUAACUGAAG
hsa-miR-101 UACAGUACUGUGAUAACUGAAG
miR-103/107 2399 2406 1A,m8 hsa-miR-103brain AGCAGCAUUGUACAGGGCUAUGA
hsa-miR-107brain AGCAGCAUUGUACAGGGCUAUCA
miR-122 2596 2602 1A hsa-miR-122a UGGAGUGUGACAAUGGUGUUUGU
miR-129-5p 1871 1877 1A hsa-miR-129brain CUUUUUGCGGUCUGGGCUUGC
hsa-miR-129-5p CUUUUUGCGGUCUGGGCUUGCU
miR-130/301 3187 3193 m8 hsa-miR-130abrain CAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301 CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrain CAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3p UAGUGCAAUAUUGCUUAUAGGGUUU
hsa-miR-130abrain CAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301 CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrain CAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3p UAGUGCAAUAUUGCUUAUAGGGUUU
miR-134 1116 1123 1A,m8 hsa-miR-134brain UGUGACUGGUUGACCAGAGGG
miR-141/200a 704 711 1A,m8 hsa-miR-141 UAACACUGUCUGGUAAAGAUGG
hsa-miR-200a UAACACUGUCUGGUAACGAUGU
miR-144 2215 2221 1A hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
miR-150 1492 1498 1A hsa-miR-150 UCUCCCAACCCUUGUACCAGUG
miR-183 665 672 1A,m8 hsa-miR-183 UAUGGCACUGGUAGAAUUCACUG
miR-186 771 777 m8 hsa-miR-186 CAAAGAAUUCUCCUUUUGGGCUU
miR-188 979 985 m8 hsa-miR-188 CAUCCCUUGCAUGGUGGAGGGU
miR-19 2445 2451 m8 hsa-miR-19a UGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19b UGUGCAAAUCCAUGCAAAACUGA
miR-200bc/429 691 697 1A hsa-miR-200b UAAUACUGCCUGGUAAUGAUGAC
hsa-miR-200c UAAUACUGCCGGGUAAUGAUGG
hsa-miR-429 UAAUACUGUCUGGUAAAACCGU
miR-203.1 1816 1822 1A hsa-miR-203 UGAAAUGUUUAGGACCACUAG
hsa-miR-203 UGAAAUGUUUAGGACCACUAG
miR-204/211 978 984 m8 hsa-miR-204brain UUCCCUUUGUCAUCCUAUGCCU
hsa-miR-211 UUCCCUUUGUCAUCCUUCGCCU
miR-21 2288 2294 m8 hsa-miR-21brain UAGCUUAUCAGACUGAUGUUGA
hsa-miR-590 GAGCUUAUUCAUAAAAGUGCAG
miR-218 843 849 1A hsa-miR-218brain UUGUGCUUGAUCUAACCAUGU
hsa-miR-218brain UUGUGCUUGAUCUAACCAUGU
miR-223 2702 2708 1A hsa-miR-223 UGUCAGUUUGUCAAAUACCCC
miR-224 1695 1701 m8 hsa-miR-224 CAAGUCACUAGUGGUUCCGUUUA
miR-23 3119 3125 m8 hsa-miR-23abrain AUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrain AUCACAUUGCCAGGGAUUACC
miR-299-5p 1179 1185 1A hsa-miR-299-5p UGGUUUACCGUCCCACAUACAU
miR-323 3119 3125 1A hsa-miR-323brain GCACAUUACACGGUCGACCUCU
miR-328 2720 2726 1A hsa-miR-328brain CUGGCCCUCUCUGCCCUUCCGU
miR-330 1073 1079 m8 hsa-miR-330brain GCAAAGCACACGGCCUGCAGAGA
miR-335 2383 2389 1A hsa-miR-335brain UCAAGAGCAAUAACGAAAAAUGU
miR-346 2118 2125 1A,m8 hsa-miR-346brain UGUCUGCCCGCAUGCCUGCCUCU
miR-363 2376 2382 1A hsa-miR-363 AUUGCACGGUAUCCAUCUGUAA
miR-369-3p 692 698 m8 hsa-miR-369-3p AAUAAUACAUGGUUGAUCUUU
miR-375 2033 2039 1A hsa-miR-375 UUUGUUCGUUCGGCUCGCGUGA
miR-382 3261 3268 1A,m8 hsa-miR-382brain GAAGUUGUUCGUGGUGGAUUCG
miR-433-3p 658 664 1A hsa-miR-433brain AUCAUGAUGGGCUCCUCGGUGU
miR-452 2377 2383 m8 hsa-miR-452 UGUUUGCAGAGGAAACUGAGAC
miR-495 2533 2539 1A hsa-miR-495brain AAACAAACAUGGUGCACUUCUUU
miR-505 1589 1595 m8 hsa-miR-505 GUCAACACUUGCUGGUUUCCUC
miR-543 2231 2237 1A hsa-miR-543 AAACAUUCGCGGUGCACUUCU
miR-9 793 799 m8 hsa-miR-9SZ UCUUUGGUUAUCUAGCUGUAUGA
miR-93.hd/291-3p/294/295/302/372/373/520 3189 3195 1A hsa-miR-93brain AAAGUGCUGUUCGUGCAGGUAG
hsa-miR-302a UAAGUGCUUCCAUGUUUUGGUGA
hsa-miR-302b UAAGUGCUUCCAUGUUUUAGUAG
hsa-miR-302c UAAGUGCUUCCAUGUUUCAGUGG
hsa-miR-302d UAAGUGCUUCCAUGUUUGAGUGU
hsa-miR-372 AAAGUGCUGCGACAUUUGAGCGU
hsa-miR-373 GAAGUGCUUCGAUUUUGGGGUGU
hsa-miR-520e AAAGUGCUUCCUUUUUGAGGG
hsa-miR-520a AAAGUGCUUCCCUUUGGACUGU
hsa-miR-520b AAAGUGCUUCCUUUUAGAGGG
hsa-miR-520c AAAGUGCUUCCUUUUAGAGGGUU
hsa-miR-520d AAAGUGCUUCUCUUUGGUGGGUU
miR-99/100 1643 1649 m8 hsa-miR-99abrain AACCCGUAGAUCCGAUCUUGUG
hsa-miR-100brain AACCCGUAGAUCCGAACUUGUG
hsa-miR-99bbrain CACCCGUAGAACCGACCUUGCG