AutismKB 2.0

Evidence Details for KIF21A


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Basic Information Top
Gene Symbol:KIF21A ( CFEOM1,DKFZp779C159,FEOM1,FEOM3A,FLJ20052,KIAA1708 )
Gene Full Name: kinesin family member 21A
Band: 12q12
Quick LinksEntrez ID:55605; OMIM: 608283; Uniprot ID:KI21A_HUMAN; ENSEMBL ID: ENSG00000139116; HGNC ID: 19349
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIF21A|55605|nucleotide
ATGTTGGGCGCCCCGGACGAGAGCTCCGTGCGGGTGGCTGTCAGAATAAGACCACAGCTTGCCAAAGAGAAGATTGAAGGATGCCATATTTGTACATCTGTCACA
CCAGGAGAGCCTCAGGTCTTCCTAGGGAAAGATAAGGCTTTTACTTTTGACTATGTATTTGACATTGACTCCCAGCAAGAGCAGATCTACATTCAATGTATAGAA
AAACTAATTGAAGGTTGCTTTGAAGGATACAATGCTACAGTTTTTGCTTATGGACAAACTGGAGCTGGTAAAACATACACAATGGGAACAGGATTTGATGTTAAC
ATTGTTGAGGAAGAACTGGGTATTATTTCTCGAGCTGTTAAACACCTTTTTAAGAGTATTGAAGAAAAAAAACACATAGCAATTAAAAATGGGCTTCCTGCTCCA
GATTTTAAAGTGAATGCCCAATTCTTAGAGCTCTATAATGAAGAGGTCCTTGACTTATTTGATACCACTCGTGATATTGATGCAAAAAGTAAAAAATCAAATATA
AGAATTCATGAAGATTCAACTGGAGGAATTTATACTGTGGGCGTTACAACACGTACTGTGAATACAGAATCAGAGATGATGCAGTGTTTGAAGTTGGGTGCTTTA
TCCCGGACAACTGCCAGTACCCAGATGAATGTTCAGAGCTCTCGTTCACATGCCATTTTTACCATTCATGTGTGTCAAACCAGAGTGTGTCCCCAAATAGATGCT
GACAATGCAACTGATAATAAAATTATTTCTGAATCAGCACAGATGAATGAATTTGAAACCCTGACTGCAAAGTTCCATTTTGTTGATCTCGCAGGATCTGAAAGA
CTGAAGCGTACTGGAGCTACAGGCGAGAGGGCAAAAGAAGGCATTTCTATCAACTGTGGACTTTTGGCACTTGGCAATGTAATAAGTGCCTTGGGAGACAAGAGC
AAGAGGGCCACACATGTCCCCTATAGAGATTCCAAGCTAACAAGACTACTACAGGATTCCCTCGGGGGTAATAGCCAAACAATCATGATAGCATGTGTCAGCCCT
TCAGACAGAGACTTTATGGAAACGTTAAACACCCTGAAATACGCCAATCGAGCTAGAAATATCAAGAATAAGGTGATGGTCAATCAGGACAGAGCTAGTCAGCAA
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>KIF21A|55605|protein
MLGAPDESSVRVAVRIRPQLAKEKIEGCHICTSVTPGEPQVFLGKDKAFTFDYVFDIDSQQEQIYIQCIEKLIEGCFEGYNATVFAYGQTGAGKTYTMGTGFDVN
IVEEELGIISRAVKHLFKSIEEKKHIAIKNGLPAPDFKVNAQFLELYNEEVLDLFDTTRDIDAKSKKSNIRIHEDSTGGIYTVGVTTRTVNTESEMMQCLKLGAL
SRTTASTQMNVQSSRSHAIFTIHVCQTRVCPQIDADNATDNKIISESAQMNEFETLTAKFHFVDLAGSERLKRTGATGERAKEGISINCGLLALGNVISALGDKS
KRATHVPYRDSKLTRLLQDSLGGNSQTIMIACVSPSDRDFMETLNTLKYANRARNIKNKVMVNQDRASQQINALRSEITRLQMELMEYKTGKRIIDEEGVESIND
MFHENAMLQTENNNLRVRIKAMQETVDALRSRITQLVSDQANHVLARAGEGNEEISNMIHSYIKEIEDLRAKLLESEAVNENLRKNLTRATARAPYFSGSSTFSP
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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