AutismKB 2.0

Annotation Detail for ATP8A1


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Basic Information Top
Gene Symbol:ATP8A1 ( ATPASEII,ATPIA,ATPP2,MGC130042,MGC130043,MGC26327 )
Gene Full Name: ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
Band: 4p13
Quick LinksEntrez ID:10396; OMIM: 609542; Uniprot ID:AT8A1_HUMAN; ENSEMBL ID: ENSG00000124406; HGNC ID: 13531
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
9Phosphoserine (By similarity).
25Phosphoserine.
28Phosphothreonine.
29Phosphoserine.
269Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
28Phosphothreonine (By similarity).Swiss-Prot 53.0
29Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphoserine(CAMK2)HMM predict
18Phosphotyrosine(Syk)HMM predict
29Phosphoserine(IKK)HMM predict
101Phosphothreonine(PKC)HMM predict
135Phosphothreonine(PKA)HMM predict
171Phosphoserine(CK1)HMM predict
175Phosphoserine(CK1)HMM predict
279N-linkedHMM predict
282Phosphoserine(MAPK)HMM predict
324Phosphoserine(PKA)HMM predict
440Phosphotyrosine(EGFR)HMM predict
459Phosphoserine(CK1)HMM predict
526Phosphothreonine(MAPK)HMM predict
541Phosphotyrosine(SRC)HMM predict
557Phosphoserine(PKA)HMM predict
588Phosphotyrosine(Syk)HMM predict
774S-palmitoylHMM predict
828N-linkedHMM predict
1091Phosphoserine(ATM)HMM predict
1104Phosphothreonine(PKC)HMM predict
1138Phosphoserine(ATM)HMM predict
1161ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006095
  • Location:chr4 42109391-42353646
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 42352867 42354447 1580 11
P300 T30-glioblastomaGSE21026 42353789 42354686 897 591
PHF8 293TGSE20725 42352889 42354810 1921 203
hScc1 BcellGSE12603 42353138 42354410 1272 128
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 42094411 42095318 907 14527
CTCF G2GSE9613 42097681 42098282 601 11410
H3K27me3 colorectalcancer 42091480 42091761 281 17771
H3K27me3 colorectalcancer 42093085 42094101 1016 15799
H3K27me3 colorectalcancer 42095540 42096389 849 13427
H3K27me3 colorectalcancer 42096894 42097749 855 12070
H3K4me3 colorectalcancer 42093085 42093442 357 16128
P300 T30-glioblastomaGSE21026 42108955 42109670 715 79
hScc1 BcellGSE12603 42094386 42095247 861 14575
hScc1 BcellGSE12603 42097811 42098246 435 11363
hScc1 G2GSE9613 42097681 42098246 565 11428
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 42265388 42265688 300 0
CTCF CD4SISSRdata 42265388 42265688 300 0
CTCF G2GSE9613 42216343 42216776 433 0
CTCF G2GSE9613 42259033 42259287 254 0
CTCF G2GSE9613 42265357 42265995 638 0
CTCF G2GSE9613 42313444 42313768 324 0
CTCF G2GSE9613 42324843 42325437 594 0
CTCF G2GSE9613 42349834 42350043 209 0
H3K4me3 colorectalcancer 42352178 42353260 1082 0
Nanog ESGSE20650 42198439 42198828 389 0
Oct1 HelaGSE14283 42212669 42212711 42 0
Oct1 HelaGSE14283 42239647 42239694 47 0
Oct1 HelaGSE14283 42300887 42300937 50 0
hScc1 BcellGSE12603 42265394 42265925 531 0
hScc1 CdLSGSE12603 42265049 42266217 1168 0
hScc1 G2GSE9613 42216256 42216929 673 0
hScc1 G2GSE9613 42265357 42266106 749 0
hScc1 G2GSE9613 42349834 42350043 209 0
hScc1 G2GSE9613 42353062 42353567 505 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
19621 HTC chr4 42325973 42326322 349 mRNA ATP8A1 chr4 42255562 42499818 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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