AutismKB 2.0

Annotation Detail for ABCA3


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Basic Information Top
Gene Symbol:ABCA3 ( ABC-C,ABC3,EST111653,LBM180,MGC166979,MGC72201,SMDP3 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 3
Band: 16p13.3
Quick LinksEntrez ID:21; OMIM: 601615; Uniprot ID:ABCA3_HUMAN; ENSEMBL ID: ENSG00000167972; HGNC ID: 33
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1265Phosphotyrosine.
1268Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
14N-linkedHMM predict
53N-linkedHMM predict
92Phosphothreonine(PKC)HMM predict
119Phosphotyrosine(INSR)HMM predict
119SulfotyrosineHMM predict
119Phosphotyrosine(Syk)HMM predict
124N-linkedHMM predict
140N-linkedHMM predict
163SulfotyrosineHMM predict
198Phosphoserine(MAPK)HMM predict
198Phosphoserine(CDC2)HMM predict
198O-linkedHMM predict
206Phosphotyrosine(INSR)HMM predict
293Phosphotyrosine(INSR)HMM predict
302C-linkedHMM predict
305C-linkedHMM predict
439Phosphoserine(MAPK)HMM predict
508Phosphoserine(CK2)HMM predict
508Phosphoserine(ATM)HMM predict
508Phosphoserine(CK1)HMM predict
591Phosphotyrosine(INSR)HMM predict
620N-linkedHMM predict
674Phosphoserine(PKG)HMM predict
774Phosphoserine(ATM)HMM predict
783N-linkedHMM predict
881Phosphoserine(ATM)HMM predict
945N-linkedHMM predict
1242Phosphoserine(CK1)HMM predict
1344Phosphothreonine(PKA)HMM predict
1344Phosphothreonine(PKC)HMM predict
1344Phosphothreonine(PKG)HMM predict
1375Phosphoserine(IKK)HMM predict
1524Phosphoserine(PKG)HMM predict
1573Phosphoserine(IKK)HMM predict
1679Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001089
  • Location:chr16 2265879-2330747
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2330630 2331468 838 302
CTCF G2GSE9613 2331855 2332234 379 1297
Myc hESGSE17917 2330724 2331280 556 255
VDR GM10861-stimGSE22484 2330335 2331359 1024 100
hScc1 BcellGSE12603 2330663 2331151 488 160
p130 shRbSenescentGSE19898 2330923 2331303 380 366
p63 keratinocytesGSE17611 2338592 2339220 628 8159
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2263475 2263835 360 2225
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2286707 2286918 211 0
CTCF CD4SISSRdata 2286707 2286918 211 0
CTCF HelaGSE12889 2286688 2286897 209 0
CTCF G2GSE9613 2267730 2267945 215 0
CTCF G2GSE9613 2272673 2273050 377 0
CTCF G2GSE9613 2274304 2274874 570 0
CTCF G2GSE9613 2277596 2278297 701 0
CTCF G2GSE9613 2278911 2279674 763 0
CTCF G2GSE9613 2280395 2280844 449 0
CTCF G2GSE9613 2286926 2287859 933 0
CTCF G2GSE9613 2289577 2289931 354 0
CTCF G2GSE9613 2324007 2324210 203 0
CTCF G2GSE9613 2329697 2330148 451 0
ER MCF7GSE19013 2319433 2320300 867 0
Fos K562GSE19551 2324020 2324473 453 0
H3ac HepG2E 2322445 2322792 347 0
NRSF JurkatGSE13047 2270819 2271664 845 0
NRSF mAbJurkat 2270185 2271384 1199 0
NRSF mAbJurkat 2278047 2278529 482 0
NRSF-mono JurkatQuESTdata 2270824 2271609 785 0
NRSF pAbJurkat 2278911 2279233 322 0
NRSF-poly JurkatQuESTdata 2270700 2271664 964 0
PHF8 293TGSE20725 2330103 2331091 988 0
TFAP2C MCF7GSE21234 2286464 2286954 490 0
VDR GM10861-UnstimGSE22484 2329530 2331581 2051 0
hScc1 BcellGSE12603 2266749 2267066 317 0
hScc1 BcellGSE12603 2298102 2298470 368 0
hScc1 CdLSGSE12603 2329842 2331404 1562 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
9483 EST chr16 2329151 2351656 1444 mRNA ABCA3 chr16 2265883 2330595 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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