AutismKB 2.0

Annotation Detail for ABCA7


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ABCA7 ( ABCA-SSN,ABCX,FLJ40025 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 7
Band: 19p13.3
Quick LinksEntrez ID:10347; OMIM: 605414; Uniprot ID:ABCA7_HUMAN; ENSEMBL ID: ENSG00000064687; HGNC ID: 37
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
312N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
312N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
63O-linkedHMM predict
66Phosphothreonine(PKC)HMM predict
78N-linkedHMM predict
79N-linkedHMM predict
86Phosphothreonine(MAPK)HMM predict
98N-linkedHMM predict
137O-linkedHMM predict
147Phosphoserine(CDC2)HMM predict
147Phosphoserine(IKK)HMM predict
214Phosphoserine(PKB)HMM predict
231O-linkedHMM predict
232O-linkedHMM predict
233Phosphothreonine(PKC)HMM predict
233O-linkedHMM predict
261O-linkedHMM predict
261Phosphoserine(IKK)HMM predict
262O-linkedHMM predict
301Phosphothreonine(MAPK)HMM predict
312N-linkedHMM predict
367MethylarginineHMM predict
447Phosphoserine(CK1)HMM predict
450O-linkedHMM predict
454O-linkedHMM predict
563O-linkedHMM predict
580Phosphothreonine(PKA)HMM predict
643Phosphoserine(IKK)HMM predict
664Phosphotyrosine(INSR)HMM predict
690Phosphoserine(IKK)HMM predict
693Phosphoserine(MAPK)HMM predict
759Phosphotyrosine(Abl)HMM predict
782Phosphoserine(CDC2)HMM predict
782O-linkedHMM predict
782Phosphoserine(CDK)HMM predict
804Phosphoserine(CDC2)HMM predict
819Phosphoserine(CDC2)HMM predict
949Phosphoserine(PKG)HMM predict
1018S-palmitoylHMM predict
1019S-palmitoylHMM predict
1036Phosphothreonine(PKC)HMM predict
1066N-linkedHMM predict
1075Phosphothreonine(CDK)HMM predict
1276Phosphotyrosine(Abl)HMM predict
1315O-linkedHMM predict
1335N-linkedHMM predict
1337Phosphothreonine(CDC2)HMM predict
1340Phosphoserine(CDK)HMM predict
1340Phosphoserine(CDC2)HMM predict
1381N-linkedHMM predict
1386N-linkedHMM predict
1405Phosphothreonine(PKC)HMM predict
1457N-linkedHMM predict
1518N-linkedHMM predict
1591Phosphotyrosine(Syk)HMM predict
1648Phosphotyrosine(Jak)HMM predict
1648Phosphotyrosine(SRC)HMM predict
1661N-linkedHMM predict
1797N-linkedHMM predict
1841Phosphothreonine(PKA)HMM predict
1863PhosphoserineHMM predict
2008Phosphoserine(CDC2)HMM predict
2087Phosphoserine(CK1)HMM predict
2110Phosphothreonine(CK2)HMM predict
2129ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019112
  • Location:chr19 992244-1016567
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 992390 992900 510 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