AutismKB 2.0

Annotation Detail for ABCA9


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ABCA9 ( DKFZp686F2450,EST640918,MGC75415 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 9
Band: 17q24.2
Quick LinksEntrez ID:10350; OMIM: 612507; Uniprot ID:ABCA9_HUMAN; ENSEMBL ID: ENSG00000154258; HGNC ID: 39
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
113Phosphoserine (By similarity).
120N-linked (GlcNAc...) (Potential).
195N-linked (GlcNAc...) (Potential).
949N-linked (GlcNAc...).
Location(AA) Modifications Resource
120N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
195N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
7Phosphoserine(CK1)HMM predict
7Phosphoserine(CAMK2)HMM predict
7Phosphoserine(PKG)HMM predict
7Phosphoserine(PKA)HMM predict
7Phosphoserine(PKA)HMM predict
7Phosphoserine(IKK)HMM predict
20S-palmitoylHMM predict
72N-linkedHMM predict
75N-linkedHMM predict
230S-palmitoylHMM predict
244N-linkedHMM predict
393Phosphoserine(ATM)HMM predict
456N-linkedHMM predict
538O-linkedHMM predict
545N-linkedHMM predict
556N-linkedHMM predict
728Phosphoserine(CK1)HMM predict
796Phosphothreonine(PKC)HMM predict
920N-linkedHMM predict
949N-linkedHMM predict
999N-linkedHMM predict
1000Phosphoserine(CDK)HMM predict
1018SulfotyrosineHMM predict
1020SulfotyrosineHMM predict
1035Phosphoserine(PKG)HMM predict
1039Phosphotyrosine(INSR)HMM predict
1187Phosphoserine(ATM)HMM predict
1193Phosphotyrosine(Syk)HMM predict
1241Phosphoserine(CDC2)HMM predict
1346O-linkedHMM predict
1376N-linkedHMM predict
1550Phosphoserine(PKA)HMM predict
1584Phosphoserine(CK1)HMM predict
1586Phosphoserine(ATM)HMM predict
1588Phosphoserine(CK2)HMM predict
1588Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_080283
  • Location:chr17 64482368-64568730
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 64566037 64566224 187 0
Fos K562GSE19551 64554865 64555609 744 0
Gata2 K562GSE18868 64554964 64555713 749 0
Myc K562GSE19551 64565988 64566245 257 0
Oct1 H2O2-HelaGSE14283 64493302 64493334 32 0
Oct1 H2O2-HelaGSE14283 64550878 64550905 27 0
Oct1 HelaGSE14283 64550873 64550907 34 0
Oct4 hESGSE17917 64565886 64566196 310 0
STAT1 HeLaGSE12782 64537629 64539259 1630 0
STAT1 HeLaGSE12783 64537629 64539144 1515 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