Gene Page:ATXN1

Summary?
GeneID 6310
Symbol ATXN1
Synonyms ATX1|D6S504E|SCA1
Description ataxin 1
Reference MIM:601556|HGNC:HGNC:10548|Ensembl:ENSG00000124788|HPRD:03333|Vega:OTTHUMG00000014303
Gene type protein-coding
Map location 6p23
Pascal p-value 0.003
Sherlock p-value 0.644
Fetal beta -0.568
eGene Meta
Support CompositeSet
达内尔FMRP目标

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:GWASdb Genome-wide Association Studies GWASdb records for schizophrenia
CV:PGCnp Genome-wide Association Study GWAS
Association A combined odds ratio method (Sun et al. 2008), association studies 2 Link to SZGene
Network Shortest path distance of core genes in the Human protein-protein interaction network Contribution to shortest path in PPI network: 15.9635

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
MYLK 0.76 0.82
ACSL6 0.74 0.79
CBX7 0.74 0.80
SUSD5 0.74 0.77
KY 0.73 0.72
FBLN7 0.73 0.66
KCNS3 0.73 0.78
EHD2 0.73 0.82
KLF9 0.72 0.79
BHLHE40 0.72 0.74
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
KIAA1949 -0.55 -0.56
TUBB2B -0.55 -0.62
TRAF4 -0.54 -0.69
BCL7C -0.54 -0.72
ZNF311 -0.53 -0.59
MARCKSL1 -0.52 -0.56
HN1 -0.52 -0.55
DYNLT1 -0.52 -0.75
PAFAH1B3 -0.52 -0.63
PPP1R14B -0.52 -0.70

Section III. Gene Ontology annotation

Molecular function GO term Evidence Neuro keywords PubMed ID
GO:0003723 RNA binding IEA -
GO:0008266 poly(U) binding IDA 11136710
GO:0008022 protein C-terminus binding 新闻学会 12757932|15016912
GO:0016564 transcription repressor activity IDA 15016912
GO:0034046 poly(rG) binding IDA 11136710
GO:0042802 identical protein binding 新闻学会 16713569
GO:0043621 protein self-association IDA 9097953
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0006396 RNA processing NAS 15615787
GO:0008219 cell death IEA -
GO:0016481 negative regulation of transcription IDA 15016912
GO:0051168 nuclear export IDA 15615787
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0005634 nucleus IDA 7647801
GO:0005654 nucleoplasm IDA 12757932
GO:0005737 cytoplasm IDA 7647801
GO:0042272 nuclear RNA export factor complex IDA 15615787
GO:0016363 nuclear matrix IDA 17557114
GO:0042405 nuclear inclusion body IDA 15615787

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
PARENT MTOR SIGNALING UP 567 375 All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LIVE UP 485 293 All SZGR 2.0 genes in this pathway
CORRE MULTIPLE MYELOMA UP 74 45 All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382 904 All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA DN 320 184 All SZGR 2.0 genes in this pathway
DOANE RESPONSE TO ANDROGEN DN 241 146 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 2 UP 418 263 All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION ERYTHROCYTE UP 157 104 All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA UP 171 112 All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG UP 130 85 All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A TARGETS DN 91 58 All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A AND HIF2A TARGETS DN 104 72 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 DN 77 52 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN 229 142 All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 TTD DN 84 63 All SZGR 2.0 genes in this pathway
ROVERSI GLIOMA LOH REGIONS 44 30 All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855 609 All SZGR 2.0 genes in this pathway
SEMBA FHIT TARGETS UP 11 7 All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN 584 395 All SZGR 2.0 genes in this pathway
OZEN MIR125B1 TARGETS 25 15 All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS UP 424 268 All SZGR 2.0 genes in this pathway
LU IL4 SIGNALING 94 56 All SZGR 2.0 genes in this pathway
MANALO HYPOXIA UP 207 145 All SZGR 2.0 genes in this pathway
YAGI AML FAB MARKERS 191 131 All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL LONG TERM 302 191 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237 837 All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION DN 287 208 All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY DN 434 302 All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS UP 280 183 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 12HR DN 101 64 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953 554 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR UP 783 442 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528 324 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
RIGGINS TAMOXIFEN RESISTANCE DN 220 147 All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973 570 All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN DN 249 165 All SZGR 2.0 genes in this pathway
ZHANG BREAST CANCER PROGENITORS UP 425 253 All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA C DN 59 39 All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305 895 All SZGR 2.0 genes in this pathway
ROME INSULIN TARGETS IN MUSCLE UP 442 263 All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368 247 All SZGR 2.0 genes in this pathway
YAGI AML WITH T 9 11 TRANSLOCATION 130 87 All SZGR 2.0 genes in this pathway
YAGI AML WITH 11Q23 REARRANGED 351 238 All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA PCA3 UP 80 54 All SZGR 2.0 genes in this pathway
GUTIERREZ CHRONIC LYMPHOCYTIC LEUKEMIA DN 56 39 All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 UP 397 206 All SZGR 2.0 genes in this pathway
HOELZEL NF1 TARGETS UP 139 93 All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS NOT VIA AKT1 DN 88 61 All SZGR 2.0 genes in this pathway
TORCHIA TARGETS OF EWSR1 FLI1 FUSION DN 321 200 All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824 528 All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 DN 448 282 All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308 187 All SZGR 2.0 genes in this pathway
ZWANG CLASS 3 TRANSIENTLY INDUCED BY EGF 222 159 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
let-7/98 3821 3827 1A hsa-let-7abrain UGAGGUAGUAGGUUGUAUAGUU
hsa-let-7bbrain UGAGGUAGUAGGUUGUGUGGUU
hsa-let-7cbrain UGAGGUAGUAGGUUGUAUGGUU
hsa-let-7dbrain AGAGGUAGUAGGUUGCAUAGU
hsa-let-7ebrain UGAGGUAGGAGGUUGUAUAGU
hsa-let-7fbrain UGAGGUAGUAGAUUGUAUAGUU
hsa-miR-98brain UGAGGUAGUAAGUUGUAUUGUU
hsa-let-7gSZ UGAGGUAGUAGUUUGUACAGU
hsa-let-7ibrain UGAGGUAGUAGUUUGUGCUGU
miR-101 1174 1181 1A,m8 hsa-miR-101 UACAGUACUGUGAUAACUGAAG
hsa-miR-101 UACAGUACUGUGAUAACUGAAG
hsa-miR-101 UACAGUACUGUGAUAACUGAAG
hsa-miR-101 UACAGUACUGUGAUAACUGAAG
miR-125/351 4097 4104 1A,m8 hsa-miR-125bbrain UCCCUGAGACCCUAACUUGUGA
hsa-miR-125abrain UCCCUGAGACCCUUUAACCUGUG
hsa-miR-125bbrain UCCCUGAGACCCUAACUUGUGA
hsa-miR-125abrain UCCCUGAGACCCUUUAACCUGUG
miR-130/301 6929 6936 1A,m8 hsa-miR-130abrain CAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301 CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrain CAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3p UAGUGCAAUAUUGCUUAUAGGGUUU
miR-132/212 3723 3729 m8 hsa-miR-212SZ UAACAGUCUCCAGUCACGGCC
hsa-miR-132brain UAACAGUCUACAGCCAUGGUCG
miR-137 2662 2668 1A hsa-miR-137 UAUUGCUUAAGAAUACGCGUAG
miR-139 60 66 m8 hsa-miR-139brain UCUACAGUGCACGUGUCU
miR-141/200a 869 876 1A,m8 hsa-miR-141 UAACACUGUCUGGUAAAGAUGG
hsa-miR-200a UAACACUGUCUGGUAACGAUGU
hsa-miR-141 UAACACUGUCUGGUAAAGAUGG
hsa-miR-200a UAACACUGUCUGGUAACGAUGU
hsa-miR-141 UAACACUGUCUGGUAAAGAUGG
hsa-miR-200a UAACACUGUCUGGUAACGAUGU
miR-144 5438 5444 m8 hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
miR-148/152 677 684 1A,m8 hsa-miR-148a UCAGUGCACUACAGAACUUUGU
hsa-miR-152brain UCAGUGCAUGACAGAACUUGGG
hsa-miR-148b UCAGUGCAUCACAGAACUUUGU
miR-17-5p/20/93.mr/106/519.d 4147 4153 m8 hsa-miR-17-5p CAAAGUGCUUACAGUGCAGGUAGU
hsa-miR-20abrain UAAAGUGCUUAUAGUGCAGGUAG
hsa-miR-106a AAAAGUGCUUACAGUGCAGGUAGC
hsa-miR-106bSZ UAAAGUGCUGACAGUGCAGAU
hsa-miR-20bSZ CAAAGUGCUCAUAGUGCAGGUAG
hsa-miR-519d CAAAGUGCCUCCCUUUAGAGUGU
miR-18 6808 6815 1A,m8 hsa-miR-18a UAAGGUGCAUCUAGUGCAGAUA
hsa-miR-18b UAAGGUGCAUCUAGUGCAGUUA
miR-181 5157 5163 m8 hsa-miR-181abrain AACAUUCAACGCUGUCGGUGAGU
hsa-miR-181bSZ AACAUUCAUUGCUGUCGGUGGG
hsa-miR-181cbrain AACAUUCAACCUGUCGGUGAGU
hsa-miR-181dbrain AACAUUCAUUGUUGUCGGUGGGUU
hsa-miR-181abrain AACAUUCAACGCUGUCGGUGAGU
hsa-miR-181bSZ AACAUUCAUUGCUGUCGGUGGG
hsa-miR-181cbrain AACAUUCAACCUGUCGGUGAGU
hsa-miR-181dbrain AACAUUCAUUGUUGUCGGUGGGUU
miR-182 4331 4338 1A,m8 hsa-miR-182 UUUGGCAAUGGUAGAACUCACA
miR-188 5604 5610 m8 hsa-miR-188 CAUCCCUUGCAUGGUGGAGGGU
miR-19 1529 1536 1A,m8 hsa-miR-19a UGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19b UGUGCAAAUCCAUGCAAAACUGA
hsa-miR-19a UGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19b UGUGCAAAUCCAUGCAAAACUGA
hsa-miR-19a UGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19b UGUGCAAAUCCAUGCAAAACUGA
hsa-miR-19a UGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19b UGUGCAAAUCCAUGCAAAACUGA
miR-200bc/429 79 85 m8 hsa-miR-200b UAAUACUGCCUGGUAAUGAUGAC
hsa-miR-200c UAAUACUGCCGGGUAAUGAUGG
hsa-miR-429 UAAUACUGUCUGGUAAAACCGU
hsa-miR-200b UAAUACUGCCUGGUAAUGAUGAC
hsa-miR-200c UAAUACUGCCGGGUAAUGAUGG
hsa-miR-429 UAAUACUGUCUGGUAAAACCGU
miR-218 4847 4853 m8 hsa-miR-218brain UUGUGCUUGAUCUAACCAUGU
miR-219 3617 3623 1A hsa-miR-219brain UGAUUGUCCAAACGCAAUUCU
miR-221/222 1626 1633 1A,m8 hsa-miR-221brain AGCUACAUUGUCUGCUGGGUUUC
hsa-miR-222brain AGCUACAUCUGGCUACUGGGUCUC
miR-23 1325 1332 1A,m8 hsa-miR-23abrain AUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrain AUCACAUUGCCAGGGAUUACC
miR-25/32/92/363/367 4240 4246 1A hsa-miR-25brain CAUUGCACUUGUCUCGGUCUGA
hsa-miR-32 UAUUGCACAUUACUAAGUUGC
hsa-miR-92 UAUUGCACUUGUCCCGGCCUG
hsa-miR-367 AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZ UAUUGCACUCGUCCCGGCCUC
miR-28 4274 4281 1A,m8 hsa-miR-28brain AAGGAGCUCACAGUCUAUUGAG
miR-29 7056 7062 m8 hsa-miR-29aSZ UAGCACCAUCUGAAAUCGGUU
hsa-miR-29bSZ UAGCACCAUUUGAAAUCAGUGUU
hsa-miR-29cSZ UAGCACCAUUUGAAAUCGGU
miR-30-3p 4320 4326 m8 hsa-miR-30a-3p CUUUCAGUCGGAUGUUUGCAGC
hsa-miR-30e-3p CUUUCAGUCGGAUGUUUACAGC
miR-30-5p 6249 6256 1A,m8 hsa-miR-30a-5p UGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrain UGUAAACAUCCUACACUCUCAGC
hsa-miR-30dSZ UGUAAACAUCCCCGACUGGAAG
hsa-miR-30bSZ UGUAAACAUCCUACACUCAGCU
hsa-miR-30e-5p UGUAAACAUCCUUGACUGGA
hsa-miR-30a-5p UGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrain UGUAAACAUCCUACACUCUCAGC
hsa-miR-30dSZ UGUAAACAUCCCCGACUGGAAG
hsa-miR-30bSZ UGUAAACAUCCUACACUCAGCU
hsa-miR-30e-5p UGUAAACAUCCUUGACUGGA
miR-320 3327 3333 m8 hsa-miR-320 AAAAGCUGGGUUGAGAGGGCGAA
miR-323 1325 1331 1A hsa-miR-323brain GCACAUUACACGGUCGACCUCU
miR-326 1967 1974 1A,m8 hsa-miR-326 CCUCUGGGCCCUUCCUCCAG
miR-329 6993 6999 m8 hsa-miR-329brain AACACACCUGGUUAACCUCUUU
miR-34b 1649 1655 1A hsa-miR-34b UAGGCAGUGUCAUUAGCUGAUUG
miR-369-3p 7093 7099 1A hsa-miR-369-3p AAUAAUACAUGGUUGAUCUUU
miR-370 3588 3594 m8 hsa-miR-370brain GCCUGCUGGGGUGGAACCUGG
miR-374 7093 7100 1A,m8 hsa-miR-374 UUAUAAUACAACCUGAUAAGUG
miR-375 7126 7132 1A hsa-miR-375 UUUGUUCGUUCGGCUCGCGUGA
miR-377 1553 1559 m8 hsa-miR-377 AUCACACAAAGGCAACUUUUGU
miR-384 875 881 1A hsa-miR-384 AUUCCUAGAAAUUGUUCAUA
miR-493-5p 4173 4179 1A hsa-miR-493-5p UUGUACAUGGUAGGCUUUCAUU
miR-495 5381 5387 1A hsa-miR-495brain AAACAAACAUGGUGCACUUCUUU
miR-542-3p 1719 1726 1A,m8 hsa-miR-542-3p UGUGACAGAUUGAUAACUGAAA
miR-543 4187 4193 m8 hsa-miR-543 AAACAUUCGCGGUGCACUUCU
miR-7 6121 6128 1A,m8 hsa-miR-7SZ UGGAAGACUAGUGAUUUUGUUG
miR-9 5567 5573 1A hsa-miR-9SZ UCUUUGGUUAUCUAGCUGUAUGA
miR-93.hd/291-3p/294/295/302/372/373/520 4146 4152 m8 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-96 7206 7212 m8 hsa-miR-96brain UUUGGCACUAGCACAUUUUUGC
hsa-miR-96brain UUUGGCACUAGCACAUUUUUGC
hsa-miR-96brain UUUGGCACUAGCACAUUUUUGC