AutismKB 2.0

Annotation Detail for PITX1


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Basic Information Top
Gene Symbol:PITX1 ( BFT,CCF,POTX,PTX1 )
Gene Full Name: paired-like homeodomain 1
Band: 5q31.1
Quick LinksEntrez ID:5307; OMIM: 602149; Uniprot ID:PITX1_HUMAN; ENSEMBL ID: ENSG00000069011; HGNC ID: 9004
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
46Phosphoserine.
48Phosphoserine.
50Phosphoserine.
51Phosphoserine.
53Phosphothreonine.
290Nuclear localization signal (Potential).
293OAR.
Location(AA) Modifications Resource
48Phosphoserine.Swiss-Prot 53.0
50Phosphoserine.Swiss-Prot 53.0
51Phosphoserine.Swiss-Prot 53.0
53Phosphothreonine.Swiss-Prot 53.0
Location(AA) Modification Resource
48Phosphoserine(CK2)HMM predict
51Phosphoserine(CK1)HMM predict
94Phosphothreonine(PKA)HMM predict
127N-linkedHMM predict
171Phosphotyrosine(Syk)HMM predict
175Phosphotyrosine(Syk)HMM predict
206Phosphoserine(IKK)HMM predict
210Phosphoserine(ATM)HMM predict
219Phosphoserine(IKK)HMM predict
227O-linkedHMM predict
247N-linkedHMM predict
269Phosphoserine(CDC2)HMM predict
279N-linkedHMM predict
309AlanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002653
  • Location:chr5 134391367-134397886
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 134397216 134399569 2353 506
CTCF G2GSE9613 134401666 134401948 282 3921
CTCF G2GSE9613 134402407 134403689 1282 5162
CTCF G2GSE9613 134403992 134404799 807 6509
CTCF G2GSE9613 134406943 134407680 737 9425
CTCF G2GSE9613 134411714 134412348 634 14145
CTCF G2GSE9613 134413799 134414128 329 16077
ER MCF7GSE19013 134410237 134410728 491 12596
Fos K562GSE19551 134406207 134406485 278 8460
H3K27me3 colorectalcancer 134404737 134405645 908 7305
Oct1 H2O2-HelaGSE14283 134400689 134400716 27 2816
Oct1 H2O2-HelaGSE14283 134411133 134411176 43 13268
Oct1 HelaGSE14283 134400142 134400170 28 2270
Oct1 HelaGSE14283 134400991 134401019 28 3119
Oct1 HelaGSE14283 134409781 134409818 37 11913
Oct1 HelaGSE14283 134411133 134411176 43 13268
Oct1 HelaGSE14283 134416953 134416999 46 19090
hScc1 BcellGSE12603 134397447 134398334 887 4
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 134387710 134387996 286 3515
ER Fulvestrant-MCF7GSE14664 134384334 134384378 44 7012
ER MCF7GSE19013 134389866 134390771 905 1049
Oct1 HelaGSE14283 134384697 134384768 71 6635
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 134391554 134391879 325 0
CTCF G2GSE9613 134392410 134392697 287 0
CTCF G2GSE9613 134394967 134395744 777 0
CTCF G2GSE9613 134396473 134396665 192 0
H3K27me3 colorectalcancer 134395744 134396180 436 0
H3ac HepG2E 134395664 134396277 613 0
TAF HelaGSE8489 134395628 134396443 815 0
hScc1 CdLSGSE12603 134397368 134397903 535 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
21486 HTC chr5 134398109 134399482 66 mRNA PITX1 chr5 134392162 134398223Sense/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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