AutismKB 2.0

Annotation Detail for KIAA1598


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Basic Information Top
Gene Symbol:KIAA1598 ( DKFZp686A0439,MGC40476,SHOOTIN1,shootin-1 )
Gene Full Name: KIAA1598
Band: 10q25.3
Quick LinksEntrez ID:57698; OMIM: 611171; Uniprot ID:SHOT1_HUMAN; ENSEMBL ID: ENSG00000187164; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
3Phosphoserine (By similarity).
4Phosphoserine (By similarity).
464Phosphoserine (By similarity).
467Phosphoserine (By similarity).
494Phosphoserine.
496Phosphothreonine.
506Phosphoserine.
515Phosphoserine.
532Phosphoserine.
537Phosphothreonine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018330
  • Location:chr10 118634297-118754865
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 118754796 118755933 1137 499
Fos K562GSE19551 118756447 118756976 529 1846
p130 shRbQuiescentGSE19898 118754667 118755115 448 26
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 118629359 118629956 597 4640
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 118712373 118712590 217 0
CBP T30-glioblastomaGSE21026 118712103 118712594 491 0
Fos K562GSE19551 118696486 118697121 635 0
H3ac HepG2E 118753697 118754511 814 0
Nanog hESGSE18292 118667538 118667853 315 0
Oct1 H2O2-HelaGSE14283 118717099 118717134 35 0
Oct1 H2O2-HelaGSE14283 118737492 118737525 33 0
Oct1 H2O2-HelaGSE14283 118754226 118754260 34 0
Oct1 HelaGSE14283 118717098 118717133 35 0
Oct4 hESGSE21916 118741655 118742054 399 0
P300 T30-glioblastomaGSE21026 118637895 118638806 911 0
P300 T30-glioblastomaGSE21026 118696446 118697678 1232 0
PHF8 HeLaGSE20725 118753829 118755423 1594 0
RARA MCF7GSE15244 118752573 118752939 366 0
RNAII Tamoxifen-MCF7GSE14664 118717098 118717134 36 0
Rb SenescentGSE19898 118754471 118754805 334 0
Stat6 IL-4-hr1GSE17850 118725567 118726059 492 0
TFAP2C MCF7GSE21234 118739801 118740202 401 0
TFAP2C MCF7GSE21234 118753861 118754823 962 0
hScc1 BcellGSE12603 118754079 118754797 718 0
p130 QuiescentGSE19898 118754092 118754288 196 0
p130 SenescentGSE19898 118754392 118754849 457 0
p130 shRbQuiescentGSE19898 118754075 118754531 456 0
p130 shRbSenescentGSE19898 118754054 118754445 391 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
158 Unknown MicroArray miR-1 KIAA1598 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000187164 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "leukocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top

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