AutismKB 2.0

Annotation Detail for ABCA12


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Basic Information Top
Gene Symbol:ABCA12 ( DKFZp434G232,FLJ41584,ICR2B,LI2 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 12
Band: 2q35
Quick LinksEntrez ID:26154; OMIM: 607800; Uniprot ID:ABCAC_HUMAN; ENSEMBL ID: ENSG00000144452; HGNC ID: 14637
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
156N-linked (GlcNAc...) (Potential).
174N-linked (GlcNAc...) (Potential).
214N-linked (GlcNAc...) (Potential).
275N-linked (GlcNAc...) (Potential).
333N-linked (GlcNAc...) (Potential).
367N-linked (GlcNAc...) (Potential).
383N-linked (GlcNAc...) (Potential).
412N-linked (GlcNAc...) (Potential).
435N-linked (GlcNAc...) (Potential).
528N-linked (GlcNAc...) (Potential).
543N-linked (GlcNAc...) (Potential).
577N-linked (GlcNAc...) (Potential).
608N-linked (GlcNAc...) (Potential).
623N-linked (GlcNAc...) (Potential).
648N-linked (GlcNAc...) (Potential).
752N-linked (GlcNAc...) (Potential).
826N-linked (GlcNAc...) (Potential).
920N-linked (GlcNAc...) (Potential).
963N-linked (GlcNAc...) (Potential).
1170N-linked (GlcNAc...) (Potential).
1524N-linked (GlcNAc...) (Potential).
1663N-linked (GlcNAc...) (Potential).
1704N-linked (GlcNAc...) (Potential).
1769N-linked (GlcNAc...) (Potential).
1819N-linked (GlcNAc...) (Potential).
1835N-linked (GlcNAc...) (Potential).
1876N-linked (GlcNAc...) (Potential).
1921N-linked (GlcNAc...) (Potential).
1952N-linked (GlcNAc...) (Potential).
2178N-linked (GlcNAc...) (Potential).
2208N-linked (GlcNAc...) (Potential).
2223N-linked (GlcNAc...) (Potential).
2318N-linked (GlcNAc...) (Potential).
2542N-linked (GlcNAc...) (Potential).
2547N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
156N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
174N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
214N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
275N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
333N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
367N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
383N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
412N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
435N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
528N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
543N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
577N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
608N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
623N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
648N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
752N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
826N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
920N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
963N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1170N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1524N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1663N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1704N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1769N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1819N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1835N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1876N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1921N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1952N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2178N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2208N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2223N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2318N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2542N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2547N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
50O-linkedHMM predict
135Phosphoserine(PKG)HMM predict
138O-linkedHMM predict
142Phosphoserine(CDC2)HMM predict
174N-linkedHMM predict
175Phosphoserine(CK2)HMM predict
176Phosphothreonine(CK2)HMM predict
214N-linkedHMM predict
230Phosphoserine(PKC)HMM predict
275N-linkedHMM predict
278Phosphoserine(CK1)HMM predict
281N-linkedHMM predict
333N-linkedHMM predict
339N-linkedHMM predict
347Phosphoserine(CDC2)HMM predict
347Phosphoserine(IKK)HMM predict
350Phosphoserine(IKK)HMM predict
383N-linkedHMM predict
412N-linkedHMM predict
418SulfotyrosineHMM predict
435N-linkedHMM predict
528N-linkedHMM predict
577N-linkedHMM predict
608N-linkedHMM predict
611Phosphothreonine(CDK)HMM predict
648N-linkedHMM predict
731Phosphoserine(ATM)HMM predict
746Phosphoserine(ATM)HMM predict
746Phosphoserine(CDK)HMM predict
752N-linkedHMM predict
776N-linkedHMM predict
777O-linkedHMM predict
826N-linkedHMM predict
839Phosphoserine(ATM)HMM predict
920N-linkedHMM predict
963N-linkedHMM predict
994Phosphothreonine(PKC)HMM predict
997Phosphoserine(CDK)HMM predict
1017Phosphotyrosine(EGFR)HMM predict
1041Phosphoserine(PKG)HMM predict
1099Phosphotyrosine(INSR)HMM predict
1170N-linkedHMM predict
1171N-linkedHMM predict
1173N-linkedHMM predict
1209Phosphoserine(IKK)HMM predict
1212Phosphoserine(MAPK)HMM predict
1255S-palmitoylHMM predict
1322N-linkedHMM predict
1435Phosphothreonine(PKC)HMM predict
1462Phosphothreonine(PKC)HMM predict
1488Phosphoserine(PKG)HMM predict
1524N-linkedHMM predict
1558S-palmitoylHMM predict
1663N-linkedHMM predict
1675Phosphoserine(CK1)HMM predict
1693Phosphoserine(CK2)HMM predict
1699Phosphoserine(IKK)HMM predict
1699Phosphoserine(CK1)HMM predict
1699Phosphoserine(CK2)HMM predict
1704N-linkedHMM predict
1714Phosphothreonine(PKC)HMM predict
1769N-linkedHMM predict
1772N-linkedHMM predict
1819N-linkedHMM predict
1835N-linkedHMM predict
1836Phosphothreonine(PKC)HMM predict
1860N-linkedHMM predict
1868Phosphothreonine(PKA)HMM predict
1876N-linkedHMM predict
1921N-linkedHMM predict
1934Phosphotyrosine(Syk)HMM predict
1970Phosphotyrosine(Jak)HMM predict
1970Phosphotyrosine(Syk)HMM predict
2160Phosphoserine(ATM)HMM predict
2178N-linkedHMM predict
2184N-linkedHMM predict
2223N-linkedHMM predict
2318N-linkedHMM predict
2330Phosphoserine(CK1)HMM predict
2387Phosphothreonine(PKA)HMM predict
2399Phosphoserine(PKG)HMM predict
2399Phosphoserine(PKA)HMM predict
2542N-linkedHMM predict
2547N-linkedHMM predict
2550N-linkedHMM predict
2572Phosphotyrosine(Syk)HMM predict
2578O-linkedHMM predict
2579Phosphoserine(IKK)HMM predict
2579Phosphoserine(ATM)HMM predict
2583O-linkedHMM predict
2585Phosphoserine(CAMK2)HMM predict
2588Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015657
  • Location:chr2 215504511-215605054
  • 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 215575490 215575721 231 0
Oct4 ESGSE20650 215600790 215601174 384 0
hScc1 CdLSGSE12603 215575382 215575861 479 0
hScc1 G2GSE9613 215575351 215576048 697 0
p130 SenescentGSE19898 215553071 215553218 147 0
Validated miRNA targets Top
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
15610 mRNA chr2 215500458 215653835 32063 mRNA ABCA12 chr2 215621772 215722316 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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