AutismKB 2.0

Annotation Detail for ARID1A


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Basic Information Top
Gene Symbol:ARID1A ( B120,BAF250,BAF250a,BM029,C1orf4,P270,SMARCF1 )
Gene Full Name: AT rich interactive domain 1A (SWI-like)
Band: 1p36.11
Quick LinksEntrez ID:8289; OMIM: 603024; Uniprot ID:ARI1A_HUMAN; ENSEMBL ID: ENSG00000117713; HGNC ID: 11110
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
79Phosphoserine.
233Phosphoserine.
286Phosphothreonine.
299LXXLL.
363Phosphoserine.
382Phosphoserine.
604Phosphoserine.
696Phosphoserine.
698Phosphoserine.
702Phosphoserine.
764Phosphoserine.
772Phosphoserine.
1184Phosphoserine.
1612N6-acetyllysine.
1713LXXLL.
1755Phosphoserine.
1905N6-acetyllysine.
1944Phosphoserine.
1971LXXLL.
2089LXXLL.
Location(AA) Modifications Resource
363Phosphoserine.Swiss-Prot 53.0
363PhosphoserinePhospho.ELM 6.0
696Phosphoserine.Swiss-Prot 53.0
696PhosphoserinePhospho.ELM 6.0
772Phosphoserine.Swiss-Prot 53.0
772PhosphoserinePhospho.ELM 6.0
1755Phosphoserine.Swiss-Prot 53.0
1755PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
12O-linkedHMM predict
90O-linkedHMM predict
116N-linkedHMM predict
129Phosphoserine(ATM)HMM predict
138O-linkedHMM predict
148Phosphotyrosine(Abl)HMM predict
157Phosphoserine(CDC2)HMM predict
195Phosphotyrosine(Syk)HMM predict
212Phosphotyrosine(SRC)HMM predict
212Phosphotyrosine(Syk)HMM predict
218N-linkedHMM predict
220O-linkedHMM predict
233O-linkedHMM predict
235MethylarginineHMM predict
238Phosphothreonine(CDK)HMM predict
249O-linkedHMM predict
249O-linkedHMM predict
254O-linkedHMM predict
261Phosphoserine(CK1)HMM predict
263O-linkedHMM predict
265Phosphoserine(IKK)HMM predict
286Phosphothreonine(MAPK)HMM predict
290O-linkedHMM predict
290O-linkedHMM predict
292O-linkedHMM predict
292O-linkedHMM predict
301Phosphoserine(CDC2)HMM predict
301Phosphoserine(MAPK)HMM predict
301Phosphoserine(CDK)HMM predict
363O-linkedHMM predict
363Phosphoserine(IKK)HMM predict
366O-linkedHMM predict
367O-linkedHMM predict
377Phosphothreonine(CDC2)HMM predict
377Phosphothreonine(MAPK)HMM predict
377Phosphothreonine(CDK)HMM predict
381O-linkedHMM predict
382Phosphoserine(CDC2)HMM predict
382Phosphoserine(IKK)HMM predict
401Phosphotyrosine(Abl)HMM predict
402Phosphoserine(ATM)HMM predict
409O-linkedHMM predict
422Phosphotyrosine(Abl)HMM predict
424O-linkedHMM predict
424Phosphoserine(ATM)HMM predict
426Phosphothreonine(MAPK)HMM predict
470Phosphotyrosine(Syk)HMM predict
471SulfotyrosineHMM predict
485Phosphotyrosine(Abl)HMM predict
486O-linkedHMM predict
486Phosphoserine(ATM)HMM predict
491O-linkedHMM predict
491Phosphoserine(ATM)HMM predict
493O-linkedHMM predict
493Phosphothreonine(MAPK)HMM predict
500SulfotyrosineHMM predict
506Phosphoserine(ATM)HMM predict
506Phosphoserine(IKK)HMM predict
514O-linkedHMM predict
514Phosphoserine(ATM)HMM predict
518Phosphotyrosine(Abl)HMM predict
519O-linkedHMM predict
519Phosphoserine(ATM)HMM predict
523O-linkedHMM predict
523Phosphoserine(ATM)HMM predict
536O-linkedHMM predict
536Phosphoserine(ATM)HMM predict
539Phosphoserine(IKK)HMM predict
547Phosphoserine(ATM)HMM predict
551Phosphotyrosine(SRC)HMM predict
551Phosphotyrosine(Abl)HMM predict
552Phosphoserine(ATM)HMM predict
560Phosphotyrosine(Syk)HMM predict
571O-linkedHMM predict
572Phosphothreonine(CDK)HMM predict
584Phosphoserine(IKK)HMM predict
592Phosphotyrosine(Abl)HMM predict
604Phosphoserine(ATM)HMM predict
607Phosphoserine(IKK)HMM predict
610Phosphoserine(IKK)HMM predict
613O-linkedHMM predict
614O-linkedHMM predict
614Phosphoserine(IKK)HMM predict
617Phosphoserine(IKK)HMM predict
619Phosphothreonine(PKC)HMM predict
638Phosphoserine(IKK)HMM predict
658O-linkedHMM predict
658Phosphoserine(CDC2)HMM predict
658Phosphoserine(MAPK)HMM predict
658Phosphoserine(CDK)HMM predict
658Phosphoserine(ATM)HMM predict
664O-linkedHMM predict
669Phosphoserine(ATM)HMM predict
679Phosphoserine(CDC2)HMM predict
682O-linkedHMM predict
682Phosphoserine(CDC2)HMM predict
682Phosphoserine(ATM)HMM predict
686Phosphoserine(CDK)HMM predict
686PhosphoserineHMM predict
696O-linkedHMM predict
698O-linkedHMM predict
698Phosphoserine(CDC2)HMM predict
702O-linkedHMM predict
702Phosphoserine(CDC2)HMM predict
705Phosphoserine(IKK)HMM predict
711Phosphoserine(IKK)HMM predict
715O-linkedHMM predict
715Phosphoserine(CDC2)HMM predict
715Phosphoserine(MAPK)HMM predict
715PhosphoserineHMM predict
730Phosphoserine(CK2)HMM predict
730Phosphoserine(IKK)HMM predict
742N-linkedHMM predict
763O-linkedHMM predict
764Phosphoserine(CDC2)HMM predict
764Phosphoserine(CDK)HMM predict
769Phosphoserine(IKK)HMM predict
772O-linkedHMM predict
772Phosphoserine(CDC2)HMM predict
772Phosphoserine(CDK)HMM predict
772Phosphoserine(ATM)HMM predict
881O-linkedHMM predict
915Phosphotyrosine(INSR)HMM predict
930Phosphotyrosine(Abl)HMM predict
976Phosphothreonine(MAPK)HMM predict
988Phosphothreonine(MAPK)HMM predict
991Phosphothreonine(CDK)HMM predict
998O-linkedHMM predict
998Phosphoserine(IKK)HMM predict
1000Phosphoserine(CK1)HMM predict
1001O-linkedHMM predict
1001Phosphoserine(CK1)HMM predict
1001Phosphoserine(IKK)HMM predict
1002O-linkedHMM predict
1003O-linkedHMM predict
1086O-linkedHMM predict
1090Phosphoserine(CDC2)HMM predict
1134O-linkedHMM predict
1134Phosphoserine(CDC2)HMM predict
1134Phosphoserine(CDK)HMM predict
1134Phosphoserine(IKK)HMM predict
1138O-linkedHMM predict
1146Phosphothreonine(CDC2)HMM predict
1146Phosphothreonine(MAPK)HMM predict
1146Phosphothreonine(CDK)HMM predict
1149O-linkedHMM predict
1149O-linkedHMM predict
1151O-linkedHMM predict
1164Phosphothreonine(MAPK)HMM predict
1167O-linkedHMM predict
1168O-linkedHMM predict
1168Phosphothreonine(MAPK)HMM predict
1171O-linkedHMM predict
1184Phosphoserine(CK1)HMM predict
1184Phosphoserine(IKK)HMM predict
1233Phosphotyrosine(INSR)HMM predict
1235Phosphoserine(CDK)HMM predict
1285Phosphotyrosine(Jak)HMM predict
1301O-linkedHMM predict
1301O-linkedHMM predict
1322O-linkedHMM predict
1348O-linkedHMM predict
1348Phosphothreonine(MAPK)HMM predict
1350O-linkedHMM predict
1352O-linkedHMM predict
1352Phosphoserine(CDC2)HMM predict
1352Phosphoserine(ATM)HMM predict
1369Phosphotyrosine(Syk)HMM predict
1377Phosphotyrosine(INSR)HMM predict
1389Phosphotyrosine(INSR)HMM predict
1389Phosphotyrosine(Abl)HMM predict
1390Phosphoserine(ATM)HMM predict
1438O-linkedHMM predict
1440O-linkedHMM predict
1443Phosphothreonine(PKC)HMM predict
1465Phosphoserine(PKG)HMM predict
1514Phosphothreonine(PKC)HMM predict
1527N-linkedHMM predict
1558O-linkedHMM predict
1570O-linkedHMM predict
1572Phosphotyrosine(Syk)HMM predict
1587Phosphoserine(CDC2)HMM predict
1597N-linkedHMM predict
1600Phosphoserine(CDC2)HMM predict
1600Phosphoserine(CDK)HMM predict
1600PhosphoserineHMM predict
1623O-linkedHMM predict
1623O-linkedHMM predict
1645O-linkedHMM predict
1660Phosphothreonine(PKC)HMM predict
1707Phosphoserine(ATM)HMM predict
1755Phosphoserine(CDC2)HMM predict
1798Phosphoserine(CK2)HMM predict
1801Phosphoserine(CK1)HMM predict
1888Phosphothreonine(MAPK)HMM predict
1908Phosphothreonine(PKA)HMM predict
1923Phosphothreonine(CK2)HMM predict
1944Phosphoserine(CDC2)HMM predict
1961Phosphoserine(CK2)HMM predict
1965Phosphothreonine(MAPK)HMM predict
1992PhosphoserineHMM predict
2066N-linkedHMM predict
2074Phosphoserine(ATM)HMM predict
2113Phosphoserine(CDC2)HMM predict
2113Phosphoserine(CDK)HMM predict
2123Phosphoserine(CK1)HMM predict
2247N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_139135
  • Location:chr1 26895108-26981187
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 26876564 26877006 442 18324
CTCF G2GSE9613 26891840 26892303 463 3037
CTCF G2GSE9613 26894695 26895203 508 160
GABP k562GSE8489 26889759 26890299 540 5080
H3ac HepG2E 26891125 26891630 505 3731
H3ac HepG2E 26892053 26894364 2311 1900
Oct1 H2O2-HelaGSE14283 26888337 26888375 38 6753
Oct1 HelaGSE14283 26887855 26887903 48 7230
Oct1 HelaGSE14283 26888343 26888375 32 6750
PHF8 293TGSE20725 26894288 26895411 1123 259
RARA MCF7GSE15244 26891378 26892434 1056 3203
Rb GrowingGSE19898 26891258 26891430 172 3765
Rb GrowingGSE19898 26891436 26891870 434 3456
Rb QuiescentGSE19898 26891602 26891965 363 3325
Rb SenescentGSE19898 26891461 26891903 442 3427
TAF k562GSE8489 26885585 26886441 856 9096
TAF k562GSE8489 26889147 26890299 1152 5386
TAF k562GSE8489 26890658 26894316 3658 2622
USF2 HepG2E 26891239 26891557 318 3711
hScc1 BcellGSE12603 26876523 26876900 377 18397
hScc1 BcellGSE12603 26891840 26892266 426 3056
hScc1 BcellGSE12603 26894581 26895203 622 217
hScc1 CdLSGSE12603 26876265 26877042 777 18455
hScc1 CdLSGSE12603 26891346 26892468 1122 3202
hScc1 CdLSGSE12603 26894616 26895138 522 232
p130 QuiescentGSE19898 26891292 26891494 202 3716
p130 QuiescentGSE19898 26891576 26891894 318 3374
p130 QuiescentGSE19898 26891943 26892342 399 2966
p130 SenescentGSE19898 26891165 26891584 419 3734
p130 SenescentGSE19898 26892156 26892425 269 2818
p130 shRbQuiescentGSE19898 26891521 26892474 953 3111
p130 shRbSenescentGSE19898 26891309 26892517 1208 3196
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 26981862 26982236 374 862
RARA MCF7GSE15244 26983174 26983806 632 2303
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 26895618 26896218 600 0
CTCF G2GSE9613 26930261 26930667 406 0
CTCF G2GSE9613 26973340 26973727 387 0
E2F4 G0GSE7516 26897010 26897694 684 0
ER E2-MCF7GSE14664 26903677 26903726 49 0
ETS1 JurkatGSE17954 26942949 26943934 985 0
FOXA1 MCF7GSE15244 26904616 26905711 1095 0
Fos K562GSE19551 26896973 26897707 734 0
Fos K562GSE19551 26943042 26943779 737 0
Fos K562GSE19551 26970630 26971504 874 0
FoxA1 MCF7MACSdata 26970844 26971019 175 0
H3ac HepG2E 26897010 26898657 1647 0
H3ac HepG2E 26898933 26899335 402 0
H3ac HepG2E 26899640 26902058 2418 0
H3ac HepG2E 26903324 26903625 301 0
H3ac HepG2E 26904821 26905353 532 0
H3ac HepG2E 26920967 26921288 321 0
LIN9 G0GSE7516 26897010 26897770 760 0
Myc K562GSE19551 26943068 26943643 575 0
Myc K562GSE19551 26970621 26971225 604 0
Nanog ESGSE20650 26923842 26924440 598 0
Nanog hESGSE18292 26923857 26924327 470 0
Nanog hESGSE18292 26963620 26964100 480 0
Oct1 H2O2-HelaGSE14283 26909857 26909888 31 0
Oct1 H2O2-HelaGSE14283 26937642 26937677 35 0
Oct1 H2O2-HelaGSE14283 26952700 26952744 44 0
Oct1 H2O2-HelaGSE14283 26956671 26956702 31 0
Oct1 HelaGSE14283 26903691 26903753 62 0
Oct1 HelaGSE14283 26909856 26909886 30 0
Oct1 HelaGSE14283 26937642 26937678 36 0
Oct1 HelaGSE14283 26952686 26952744 58 0
Oct1 HelaGSE14283 26956671 26956701 30 0
Oct1 HelaGSE14283 26962769 26962808 39 0
P300 T30-glioblastomaGSE21026 26904382 26905502 1120 0
P300 T30-glioblastomaGSE21026 26922269 26923363 1094 0
PAX3-FKHR Rh4GSE19063 26904444 26905666 1222 0
PHF8 HeLaGSE20725 26894125 26896630 2505 0
PolII HeLaGSE12783 26893219 26897961 4742 0
RARA MCF7GSE15244 26904821 26905390 569 0
RARA MCF7GSE15244 26970610 26971611 1001 0
TAF HelaGSE8489 26912740 26912996 256 0
TAF k562GSE8489 26897262 26899783 2521 0
USF1 HepG2E 26905109 26906086 977 0
USF1 HepG2E 26920593 26921288 695 0
USF1 HepG2E 26921633 26924130 2497 0
USF2 HepG2E 26922219 26923280 1061 0
hScc1 BcellGSE12603 26895618 26896263 645 0
hScc1 BcellGSE12603 26897082 26897478 396 0
hScc1 BcellGSE12603 26930188 26930702 514 0
hScc1 BcellGSE12603 26942936 26943487 551 0
hScc1 CdLSGSE12603 26895681 26896152 471 0
p130 QuiescentGSE19898 26896947 26897558 611 0
p130 QuiescentGSE19898 26922701 26923126 425 0
p130 SenescentGSE19898 26896751 26897497 746 0
p130 shRbQuiescentGSE19898 26896674 26897466 792 0
p130 shRbSenescentGSE19898 26897001 26897775 774 0
p130 shRbSenescentGSE19898 26922720 26923104 384 0
p130 G0GSE7516 26897058 26897694 636 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1134 Unknown pSILAC miR-1 ARID1A down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000117713 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
440 mRNA ARID1A chr1 26706666 26792737 1723 mRNA chr1 26756611 26758334 Non-exonic Bidirectional (NOB) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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