AutismKB 2.0

Annotation Detail for ABCD3


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Basic Information Top
Gene Symbol:ABCD3 ( ABC43,PMP70,PXMP1,ZWS2 )
Gene Full Name: ATP-binding cassette, sub-family D (ALD), member 3
Band: 1p21.3
Quick LinksEntrez ID:5825; OMIM: 170995; Uniprot ID:ABCD3_HUMAN; ENSEMBL ID: ENSG00000117528; HGNC ID: 67
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
12N-linked (GlcNAc...) (Potential).
106N-linked (GlcNAc...) (Potential).
145Phosphotyrosine.
206N-linked (GlcNAc...) (Potential).
260N6-acetyllysine.
399N6-acetyllysine.
Location(AA) Modifications Resource
12N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
106N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
206N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
260N6-acetyllysine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
13Phosphoserine(PKG)HMM predict
14Phosphoserine(PKA)HMM predict
106N-linkedHMM predict
206N-linkedHMM predict
265Phosphotyrosine(SRC)HMM predict
291Phosphothreonine(PKC)HMM predict
330Phosphotyrosine(Jak)HMM predict
412Phosphoserine(ATM)HMM predict
498Phosphothreonine(PKC)HMM predict
507Phosphotyrosine(Jak)HMM predict
525SulfotyrosineHMM predict
636Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002858
  • Location:chr1 94656598-94756671
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 94655286 94655724 438 1094
Oct1 HelaGSE14283 94650618 94650654 36 5963
PHF8 HeLaGSE20725 94655716 94657416 1700 33
RARA MCF7GSE15244 94655286 94655724 438 1094
Rb QuiescentGSE19898 94655919 94656330 411 474
Rb SenescentGSE19898 94656025 94656604 579 284
TAF k562GSE8489 94655286 94655724 438 1094
p130 shRbQuiescentGSE19898 94655990 94656402 412 403
p130 shRbSenescentGSE19898 94655962 94656503 541 366
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct4 hESGSE17917 94760574 94760809 235 4020
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 94701962 94702233 271 0
CTCF CD4GSE12889 94719621 94719929 308 0
CTCF CD4SISSRdata 94701962 94702233 271 0
CTCF CD4SISSRdata 94719621 94719929 308 0
CTCF G2GSE9613 94702007 94702206 199 0
H3K4me2 HCT116GSE10453 94657190 94657680 490 0
H3K4me3 colorectalcancer 94657190 94657962 772 0
H3ac HepG2E 94657073 94658807 1734 0
H3ac HepG2E 94659750 94660296 546 0
H3ac HepG2E 94660665 94662041 1376 0
Oct1 H2O2-HelaGSE14283 94694908 94694936 28 0
Oct1 HelaGSE14283 94694908 94694937 29 0
Oct1 HelaGSE14283 94725166 94725207 41 0
Oct1 HelaGSE14283 94755776 94755836 60 0
RARA MCF7GSE15244 94657109 94657571 462 0
TFAP2C MCF7GSE21234 94686676 94687422 746 0
TFAP2C MCF7GSE21234 94752318 94752604 286 0
hScc1 BcellGSE12603 94656418 94657026 608 0
hScc1 BcellGSE12603 94701858 94702242 384 0
hScc1 CdLSGSE12603 94701743 94702390 647 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