AutismKB 2.0

Evidence Details for KIF4B


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Basic Information Top
Gene Symbol:KIF4B ( - )
Gene Full Name: kinesin family member 4B
Band: 5q33.2
Quick LinksEntrez ID:285643; OMIM: 609184; Uniprot ID:KIF4B_HUMAN; ENSEMBL ID: ENSG00000226650; HGNC ID: 6322
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIF4B|285643|nucleotide
ATGAAGGAAGAGGTGAAGGGAATTCCTGTAAGAGTGGCACTGCGTTGTCGCCCTCTGGTCCCCAAAGAGATTAGCGAGGGCTGCCAGATGTGCCTTTCCTTCGTG
CCCGGGGAGACTCAGGTGGTGGTTGGTACTGATAAATCCTTCACCTACGATTTTGTGTTTGACCCCTGTACTGAGCAGGAAGAAGTCTTCAATAAAGCAGTAGCG
CCGCTCATAAAAGGCATATTTAAAGGATATAATGCAACGGTCCTGGCCTATGGGCAGACTGGCTCTGGAAAAACCTATTCAATGGGAGGTGCATACACTGCGGAG
CAGGAGAATGAACCAACAGTTGGCATTATTCCTAGGGTAATACAACTGCTCTTCAAAGAAATTGATAAAAAGAGTGACTTTGAATTTACTCTGAAAGTGTCTTAC
TTAGAGATTTACAATGAAGAAATTTTGGATCTTCTATGCCCATCTCGTGAGAAAGCTCAAATAAATATACGGGAGGATCCTAAGGAAGGCATAAAGATTGTGGGA
CTCACTGAGAAGACTGTTTTAGTTGCCTTGGATACTGTTTCCTGTTTGGAGCAGGGCAACAACTCTAGGACTGTGGCCTCCACAGCTATGAACTCCCAGTCGTCC
CGATCTCATGCCATCTTTACAATCTCCATAGAGCAAAGAAAGAAAAGTGACAAGAATTGCAGCTTTCGCTCCAAGCTGCATCTTGTAGATCTCGCTGGATCAGAA
AGACAGAAGAAAACCAAGGCTGAAGGGGATCGTCTAAAAGAGGGTATTAATATTAACCGAGGCCTCCTATGCTTGGGAAATGTAATCAGTGCTCTTGGAGATGAC
AAAAAGGGTAGCTTTGTGCCCTACAGAGATTCCAAGTTAACTCGACTGCTGCAAGATTCTCTAGGAGGTAACAGCCACACTCTTATGATAGCCTGTGTGAGTCCT
GCTGACTCCAATCTAGAGGAAACATTAAGTACCCTTCGCTATGCTGACAGAGCAAGAAAAATCAAGAACAAACCTATTGTTAATATTGATCCCCACACAGCTGAA
CTTAATCATCTAAAGCAACAGGTACAACAGCTACAAGTCTTGTTGCTACAAGCCCATGGAGGTACCCTGCCTGGATCTATAAATGCAGAACCATCAGAGAATCTA
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>KIF4B|285643|protein
MKEEVKGIPVRVALRCRPLVPKEISEGCQMCLSFVPGETQVVVGTDKSFTYDFVFDPCTEQEEVFNKAVAPLIKGIFKGYNATVLAYGQTGSGKTYSMGGAYTAE
QENEPTVGIIPRVIQLLFKEIDKKSDFEFTLKVSYLEIYNEEILDLLCPSREKAQINIREDPKEGIKIVGLTEKTVLVALDTVSCLEQGNNSRTVASTAMNSQSS
RSHAIFTISIEQRKKSDKNCSFRSKLHLVDLAGSERQKKTKAEGDRLKEGININRGLLCLGNVISALGDDKKGSFVPYRDSKLTRLLQDSLGGNSHTLMIACVSP
ADSNLEETLSTLRYADRARKIKNKPIVNIDPHTAELNHLKQQVQQLQVLLLQAHGGTLPGSINAEPSENLQSLMEKNQSLVEENEKLSRCLSKAAGQTAQMLERI
ILTEQVNEKLNAKLEELRQHVACKLDLQKLVETLEDQELKENVEIICNLQQLITQLSDETVACTAAAIDTAVEEEAQVETSPETSRSSDAFTTQHALHQAQMSKE
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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 (0) 0 (0) 0 (1) 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