AutismKB 2.0

Annotation Detail for ABCA4


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Basic Information Top
Gene Symbol:ABCA4 ( ABC10,ABCR,ARMD2,CORD3,DKFZp781N1972,FFM,FLJ17534,RMP,RP19,STGD,STGD1 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 4
Band: 1p22.1
Quick LinksEntrez ID:24; OMIM: 601691; Uniprot ID:ABCA4_HUMAN; ENSEMBL ID: ENSG00000198691; HGNC ID: 34
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
98N-linked (GlcNAc...).
415N-linked (GlcNAc...).
444N-linked (GlcNAc...).
504N-linked (GlcNAc...).
1469N-linked (GlcNAc...).
1529N-linked (GlcNAc...).
1588N-linked (GlcNAc...).
1662N-linked (GlcNAc...).
Location(AA) Modifications Resource
14N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
98N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
415N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
444N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
504N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
950N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1469N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1529N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1588N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1662N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1707N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1819N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1933N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2006N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2052N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
14N-linkedHMM predict
84Phosphoserine(CDC2)HMM predict
84Phosphoserine(CDK)HMM predict
86O-linkedHMM predict
86Phosphothreonine(MAPK)HMM predict
141Phosphothreonine(CDK)HMM predict
245Phosphotyrosine(INSR)HMM predict
245Phosphotyrosine(Syk)HMM predict
265Phosphoserine(ATM)HMM predict
345Phosphotyrosine(Syk)HMM predict
345Phosphotyrosine(EGFR)HMM predict
367Phosphothreonine(PKA)HMM predict
368Phosphoserine(IKK)HMM predict
368PhosphoserineHMM predict
368Phosphoserine(PKB)HMM predict
404Phosphoserine(CDC2)HMM predict
415N-linkedHMM predict
416Phosphoserine(CK2)HMM predict
444N-linkedHMM predict
449N-linkedHMM predict
457N-linkedHMM predict
489Phosphoserine(ATM)HMM predict
504N-linkedHMM predict
540Phosphoserine(PKG)HMM predict
540Phosphoserine(CK1)HMM predict
670Phosphothreonine(PKC)HMM predict
798Phosphoserine(MAPK)HMM predict
827Phosphoserine(CDC2)HMM predict
950N-linkedHMM predict
956N-linkedHMM predict
984O-linkedHMM predict
1071Phosphoserine(PKG)HMM predict
1181O-linkedHMM predict
1186O-linkedHMM predict
1196Phosphothreonine(MAPK)HMM predict
1267Phosphothreonine(MAPK)HMM predict
1313Phosphothreonine(MAPK)HMM predict
1457N-linkedHMM predict
1459Phosphothreonine(CDC2)HMM predict
1463O-linkedHMM predict
1469N-linkedHMM predict
1483N-linkedHMM predict
1485Phosphoserine(CDC2)HMM predict
1487O-linkedHMM predict
1515Phosphothreonine(PKC)HMM predict
1519Phosphothreonine(PKA)HMM predict
1529N-linkedHMM predict
1588N-linkedHMM predict
1652Phosphotyrosine(SRC)HMM predict
1662N-linkedHMM predict
1677O-linkedHMM predict
1707N-linkedHMM predict
1722O-linkedHMM predict
1754Phosphotyrosine(INSR)HMM predict
1792Phosphotyrosine(Jak)HMM predict
1805N-linkedHMM predict
1819N-linkedHMM predict
1851Phosphoserine(ATM)HMM predict
1933N-linkedHMM predict
1952Phosphoserine(CDC2)HMM predict
1993O-linkedHMM predict
2080Phosphoserine(PKA)HMM predict
2080Phosphoserine(PKG)HMM predict
2168Phosphothreonine(PKC)HMM predict
2234Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000350
  • Location:chr1 94230983-94359292
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 94369606 94369681 75 10351
Oct1 HelaGSE14283 94371397 94371432 35 12122
RARA MCF7GSE15244 94363914 94364232 318 4781
USF1 HepG2E 94363882 94364232 350 4765
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 94214496 94215037 541 16217
Oct1 HelaGSE14283 94229908 94229964 56 1048
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 94329641 94331618 1977 0
CBP T0-glioblastomaGSE21026 94274677 94275440 763 0
CBP T30-glioblastomaGSE21026 94274573 94275712 1139 0
CTCF CD4GSE12889 94264047 94264368 321 0
CTCF CD4GSE12889 94277631 94277948 317 0
CTCF CD4GSE12889 94283690 94284199 509 0
CTCF CD4GSE12889 94299650 94299948 298 0
CTCF CD4SISSRdata 94264047 94264368 321 0
CTCF CD4SISSRdata 94277631 94277948 317 0
CTCF CD4SISSRdata 94283690 94284199 509 0
CTCF CD4SISSRdata 94299650 94299948 298 0
CTCF G2GSE9613 94239196 94239378 182 0
CTCF G2GSE9613 94239786 94240448 662 0
CTCF G2GSE9613 94249006 94249314 308 0
CTCF G2GSE9613 94264035 94264411 376 0
CTCF G2GSE9613 94277604 94278299 695 0
CTCF G2GSE9613 94283654 94284221 567 0
CTCF G2GSE9613 94299274 94300112 838 0
CTCF G2GSE9613 94301342 94301762 420 0
CTCF G2GSE9613 94347621 94348053 432 0
FOXA1 MCF7GSE15244 94306313 94308370 2057 0
H3ac HepG2E 94286558 94286983 425 0
NRSF mAbJurkat 94337753 94339818 2065 0
NRSF-mono JurkatQuESTdata 94338509 94339185 676 0
NRSF-poly JurkatQuESTdata 94338658 94339234 576 0
Nanog hESGSE18292 94307560 94307967 407 0
Nanog hESGSE18292 94352079 94352442 363 0
Oct1 H2O2-HelaGSE14283 94264014 94264042 28 0
Oct1 HelaGSE14283 94302773 94302817 44 0
Oct1 HelaGSE14283 94326793 94326824 31 0
P300 T30-glioblastomaGSE21026 94274097 94277106 3009 0
RARA MCF7GSE15244 94283232 94283970 738 0
RARA MCF7GSE15244 94301305 94302855 1550 0
RARA MCF7GSE15244 94306060 94308407 2347 0
RARA MCF7GSE15244 94319609 94320538 929 0
RARA MCF7GSE15244 94321866 94322816 950 0
RARA MCF7GSE15244 94332330 94333792 1462 0
RARA MCF7GSE15244 94337975 94339933 1958 0
RARA MCF7GSE15244 94340307 94341339 1032 0
RARA MCF7GSE15244 94351824 94352049 225 0
RARA MCF7GSE15244 94352930 94353521 591 0
RARA MCF7GSE15244 94355479 94357294 1815 0
RARG MCF7GSE15244 94306060 94308407 2347 0
RARG MCF7GSE15244 94332366 94333568 1202 0
RARG MCF7GSE15244 94338079 94339933 1854 0
RARG MCF7GSE15244 94355479 94357010 1531 0
Rb shRbSenescenceGSE19898 94297653 94297834 181 0
Sox2 hESGSE18292 94352222 94352454 232 0
TFAP2C MCF7GSE21234 94233985 94234345 360 0
TFAP2C MCF7GSE21234 94339321 94340227 906 0
TFAP2C MCF7GSE21234 94356154 94356704 550 0
USF1 HepG2E 94267323 94270093 2770 0
USF1 HepG2E 94270816 94271087 271 0
USF1 HepG2E 94283166 94284047 881 0
USF2 HepG2E 94283137 94284047 910 0
hScc1 BcellGSE12603 94268675 94269101 426 0
hScc1 BcellGSE12603 94283689 94284279 590 0
hScc1 BcellGSE12603 94299417 94300018 601 0
hScc1 BcellGSE12603 94355370 94355636 266 0
hScc1 CdLSGSE12603 94283615 94284279 664 0
hScc1 CdLSGSE12603 94299453 94300176 723 0
hScc1 G2GSE9613 94283654 94284078 424 0
hScc1 G2GSE9613 94299274 94300176 902 0
p130 QuiescentGSE19898 94283818 94284076 258 0
p130 SenescentGSE19898 94283761 94284026 265 0
p130 SenescentGSE19898 94333209 94333746 537 0
p63 keratinocytesGSE17611 94265780 94266558 778 0
p63 keratinocytesGSE17611 94319688 94320619 931 0
p63 keratinocytesGSE17611 94341534 94342553 1019 0
Validated miRNA targets Top
Cis-Nats regulation Top

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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