AutismKB 2.0

Annotation Detail for HEATR1


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Basic Information Top
Gene Symbol:HEATR1 ( BAP28,FLJ10359,MGC72083 )
Gene Full Name: HEAT repeat containing 1
Band: 1q43
Quick LinksEntrez ID:55127; OMIM: NA; Uniprot ID:HEAT1_HUMAN; ENSEMBL ID: ENSG00000119285; HGNC ID: 25517
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1190Phosphoserine.
1492Phosphoserine.
Location(AA) Modifications Resource
2076PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
71Phosphoserine(ATM)HMM predict
154N-linkedHMM predict
155N-linkedHMM predict
169Phosphoserine(PKG)HMM predict
375Phosphotyrosine(EGFR)HMM predict
409Phosphoserine(ATM)HMM predict
409Phosphoserine(CK2)HMM predict
419Phosphoserine(PKG)HMM predict
539Phosphoserine(CK2)HMM predict
590Phosphoserine(CK1)HMM predict
679Phosphoserine(IKK)HMM predict
713Phosphoserine(IKK)HMM predict
715S-palmitoylHMM predict
776N-linkedHMM predict
825Phosphotyrosine(Jak)HMM predict
903Phosphoserine(ATM)HMM predict
916O-linkedHMM predict
917Phosphoserine(CDC2)HMM predict
953Phosphotyrosine(Jak)HMM predict
1008Phosphotyrosine(Jak)HMM predict
1146Phosphothreonine(PKC)HMM predict
1208Phosphothreonine(PKA)HMM predict
1258S-palmitoylHMM predict
1347N-linkedHMM predict
1365PhosphoserineHMM predict
1488N-linkedHMM predict
1492Phosphoserine(ATM)HMM predict
1492PhosphoserineHMM predict
1784Phosphoserine(ATM)HMM predict
1800Phosphoserine(ATM)HMM predict
1865Phosphoserine(ATM)HMM predict
1970N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018072
  • Location:chr1 234780593-234834436
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 234834211 234834916 705 127
LIN9 G0GSE7516 234834029 234834916 887 36
LIN9 SGSE7516 234834424 234834916 492 234
Myc K562GSE19551 234833819 234835066 1247 6
Oct4 hESGSE17917 234834366 234834644 278 69
P300 T0-glioblastomaGSE21026 234834103 234834785 682 8
P300 T30-glioblastomaGSE21026 234833938 234835049 1111 57
PHF8 293TGSE20725 234833850 234835290 1440 134
Rb QuiescentGSE19898 234834114 234834794 680 18
hScc1 BcellGSE12603 234834247 234834630 383 2
p130 QuiescentGSE19898 234834352 234834975 623 227
p130 SenescentGSE19898 234834326 234835091 765 272
p130 shRbQuiescentGSE19898 234834511 234834937 426 288
p130 shRbSenescentGSE19898 234834172 234834959 787 129
p130 G0GSE7516 234834247 234834916 669 145
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 234790200 234790603 403 0
ETS1 JurkatGSE17954 234833884 234834944 1060 0
H3K4me3 colorectalcancer 234832955 234834424 1469 0
H3ac HepG2E 234832859 234834559 1700 0
Rb SenescentGSE19898 234834186 234834623 437 0
USF1 HepG2E 234833921 234834916 995 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
2560 mRNA LGALS8 chr1 233012779 233039037 690 mRNA FLJ10359 chr1 233038347 233064216Sense/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