AutismKB 2.0

Evidence Details for KIAA0564


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Basic Information Top
Gene Symbol:KIAA0564 ( FLJ21779 )
Gene Full Name: KIAA0564
Band: 13q14.11
Quick LinksEntrez ID:23078; OMIM: NA; Uniprot ID:K0564_HUMAN; ENSEMBL ID: ENSG00000102763; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA0564|23078|nucleotide
ATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTCCTGCGGCAGGTGGTGCAGCGCAGGCCGGGT
GGCGACAGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGTGATACAGTTAATATTGGAGATGTATCCTACAAGTTGAAAATTCCT
AAGAATCCAGAACTTGTGCCACAGAACTACATTTCAGACTCTCTGGCTCAATCTGTAGTTCAGCATCTAAGATGGATAATGCAGAAGGATCTTTTGGGGCAAGAT
GTTTTTCTAATAGGACCTCCTGGGCCTCTTCGACGCTCTATTGCTATGCAGTACTTGGAGCTGACCAAACGGGAGGTCGAATACATTGCCCTGTCAAGGGACACC
ACTGAAACTGATCTCAAACAGCGACGAGAGATCCGTGCAGGCACAGCCTTTTACATTGATCAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTG
GAAGGTTTGGAAAAGGCAGAGAGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAG
CGTTACGACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCCTTGGGCTTGCCAGTG
CCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCCTTCAAGGACCAACTTAAGTTGTTATATTCA
ATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTGTGTTCCCAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTA
GATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATGATGCCAATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAA
GGGAAGATGGCTGTGGAAGGTGTTTTAAAGCGCTTTGAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAAC
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>KIAA0564|23078|protein
MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQD
VFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAE
RYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPL
DSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDR
FIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLA
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (5)
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Cusco, 2008 Spanish aCGHASD - - - - 96 100 196
Linkage Studies Top