AutismKB 2.0

Evidence Details for KIRREL3


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Basic Information Top
Gene Symbol:KIRREL3 ( KIAA1867,KIRRE,MGC126824,MGC126850,MRD4,NEPH2,PRO4502 )
Gene Full Name: kin of IRRE like 3 (Drosophila)
Band: 11q24.2
Quick LinksEntrez ID:84623; OMIM: 607761; Uniprot ID:KIRR3_HUMAN; ENSEMBL ID: ENSG00000149571; HGNC ID: 23204
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIRREL3|84623|nucleotide
ATGAAACCCTTCCAGCTCGATCTGCTCTTCGTCTGCTTCTTCCTCTTCAGTCAAGAGCTGGGCCTCCAGAAGAGAGGATGCTGTCTGGTGCTGGGCTACATGGCC
AAGGACAAGTTTCGGAGAATGAATGAAGGCCAAGTCTATTCCTTCAGCCAGCAGCCCCAGGACCAGGTGGTGGTGTCGGGACAGCCAGTGACGCTACTTTGCGCC
ATCCCCGAATACGATGGCTTCGTTCTGTGGATCAAGGACGGCTTGGCTCTGGGTGTGGGCAGGGACCTCTCAAGTTACCCACAGTACCTGGTGGTAGGGAACCAC
CTGTCAGGGGAGCACCACCTGAAGATCCTGAGGGCAGAGCTGCAAGACGATGCGGTGTACGAGTGCCAGGCCATCCAGGCCGCCATCCGCTCCCGCCCCGCACGC
CTCACAGTCCTGGTGCCGCCTGATGACCCCGTCATCCTGGGGGGCCCTGTGATCAGCCTGCGTGCGGGGGACCCTCTCAACCTCACCTGCCACGCAGACAATGCC
AAGCCTGCAGCCTCCATCATCTGGTTGCGAAAGGGAGAGGTCATCAATGGGGCCACCTACTCCAAGACCCTGCTTCGGGACGGCAAGCGGGAGAGCATCGTCAGC
ACCCTCTTCATCTCCCCTGGTGACGTGGAGAATGGCCAGAGCATCGTGTGTCGTGCCACCAACAAAGCCATCCCCGGAGGAAAGGAGACGTCGGTCACCATTGAC
ATCCAGCACCCTCCACTGGTCAACCTCTCGGTGGAGCCACAGCCAGTGCTGGAGGACAACGTCGTCACTTTCCACTGCTCTGCAAAGGCCAACCCAGCTGTCACC
CAGTACAGGTGGGCCAAGCGGGGCCAGATCATCAAGGAGGCATCTGGAGAGGTGTACAGGACCACAGTGGACTACACGTACTTCTCAGAGCCCGTCTCCTGTGAG
GTGACCAACGCCCTGGGCAGCACCAACCTCAGCCGCACGGTTGACGTCTACTTTGGGCCCCGGATGACCACAGAACCCCAATCCTTGCTCGTGGATCTGGGCTCT
GATGCCATCTTCAGCTGCGCCTGGACCGGCAACCCATCCCTGACCATCGTCTGGATGAAGCGGGGCTCCGGAGTGGTCCTGAGCAATGAGAAGACCCTGACCCTC
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>KIRREL3|84623|protein
MKPFQLDLLFVCFFLFSQELGLQKRGCCLVLGYMAKDKFRRMNEGQVYSFSQQPQDQVVVSGQPVTLLCAIPEYDGFVLWIKDGLALGVGRDLSSYPQYLVVGNH
LSGEHHLKILRAELQDDAVYECQAIQAAIRSRPARLTVLVPPDDPVILGGPVISLRAGDPLNLTCHADNAKPAASIIWLRKGEVINGATYSKTLLRDGKRESIVS
TLFISPGDVENGQSIVCRATNKAIPGGKETSVTIDIQHPPLVNLSVEPQPVLEDNVVTFHCSAKANPAVTQYRWAKRGQIIKEASGEVYRTTVDYTYFSEPVSCE
VTNALGSTNLSRTVDVYFGPRMTTEPQSLLVDLGSDAIFSCAWTGNPSLTIVWMKRGSGVVLSNEKTLTLKSVRQEDAGKYVCRAVVPRVGAGEREVTLTVNGPP
IISSTQTQHALHGEKGQIKCFIRSTPPPDRIAWSWKENVLESGTSGRYTVETISTEEGVISTLTISNIVRADFQTIYNCTAWNSFGSDTEIIRLKEQGSEMKSGA
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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 (1) 0 (0) 0 (0) 0 (0) 3 (4) 0 (0) 0 (2) 0 (0) 30 (8)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top