AutismKB 2.0

Annotation Detail for ATP8B1


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Basic Information Top
Gene Symbol:ATP8B1 ( ATPIC,BRIC,FIC1,PFIC,PFIC1 )
Gene Full Name: ATPase, aminophospholipid transporter, class I, type 8B, member 1
Band: 18q21.31
Quick LinksEntrez ID:5205; OMIM: 602397; Uniprot ID:AT8B1_HUMAN; ENSEMBL ID: ENSG00000081923; HGNC ID: 3706
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1217Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
15Phosphoserine(ATM)HMM predict
29Phosphothreonine(CK2)HMM predict
92Phosphotyrosine(INSR)HMM predict
175N-linkedHMM predict
249Phosphotyrosine(Jak)HMM predict
283N-linkedHMM predict
323Phosphoserine(PKG)HMM predict
368N-linkedHMM predict
380Phosphothreonine(MAPK)HMM predict
476Phosphotyrosine(EGFR)HMM predict
483Phosphoserine(ATM)HMM predict
588Phosphotyrosine(SRC)HMM predict
633N-linkedHMM predict
648N-linkedHMM predict
655S-palmitoylHMM predict
691Phosphotyrosine(Syk)HMM predict
763Phosphoserine(CK1)HMM predict
869Phosphothreonine(CDK)HMM predict
980Phosphotyrosine(Syk)HMM predict
1069Phosphotyrosine(Syk)HMM predict
1069Phosphotyrosine(EGFR)HMM predict
1075O-linkedHMM predict
1203Phosphoserine(PKC)HMM predict
1203Phosphoserine(PKB)HMM predict
1204Phosphothreonine(PKC)HMM predict
1207Phosphoserine(PKC)HMM predict
1232Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005603
  • Location:chr18 53464658-53550036
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 53555620 53556623 1003 6085
CBP T30-glioblastomaGSE21026 53562325 53562992 667 12622
FOXA1 MCF7GSE15244 53551147 53551443 296 1259
FOXA1 eGFPGSE10845 53551147 53551443 296 1259
Fos K562GSE19551 53566872 53567321 449 17060
FoxA1 MCF7MACSdata 53567050 53567255 205 17116
P300 T30-glioblastomaGSE21026 53555523 53556648 1125 6049
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 53459794 53461753 1959 3885
RUNX JurkatGSE17954 53460706 53460778 72 3917
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Breast-CancerGSE22609 53546365 53546956 591 0
ER E2-MCF7GSE14664 53506216 53506306 90 0
ER Fulvestrant-MCF7GSE14664 53533995 53534031 36 0
FOXA1 MCF7GSE15244 53524424 53524837 413 0
FOXA1 eGFPGSE10845 53524424 53524837 413 0
FoxA1 MCF7MACSdata 53524476 53524787 311 0
Myc K562GSE19551 53477638 53478084 446 0
Oct1 H2O2-HelaGSE14283 53521237 53521308 71 0
Oct1 HelaGSE14283 53507546 53507572 26 0
Oct1 HelaGSE14283 53521230 53521312 82 0
Oct1 HelaGSE14283 53533984 53534026 42 0
P300 T30-glioblastomaGSE21026 53535779 53536235 456 0
TFAP2C MCF7GSE21234 53516700 53517194 494 0
TFAP2C MCF7GSE21234 53524431 53524825 394 0
TFAP2C MCF7GSE21234 53530506 53531041 535 0
TFAP2C MCF7GSE21234 53533963 53534273 310 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
12205 mRNA chr18 53457684 53556274 181 mRNA ATP8B1 chr18 53466585 53550037Sense/Antisense (SA) 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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