AutismKB 2.0

Evidence Details for KIR3DL3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KIR3DL3 ( CD158Z,KIR3DL7,KIR44,KIRC1 )
Gene Full Name: killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3
Band: 19q13.42
Quick LinksEntrez ID:115653; OMIM: 610095; Uniprot ID:KI3L3_HUMAN; ENSEMBL ID: ENSG00000189013; HGNC ID: 16312
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIR3DL3|115653|nucleotide
ATGTCGCTCATGGTCGTCAGCATGGCGTGTGTTGGGTTCTTCTTGCTGGAGGGGCCCTGGCCACATGTGGGTGGTCAGGACAAGCCCTTCCTCTCTGCCTGGCCC
GGCACTGTGGTGTCTGAAGGACAACATGTGACTCTTCAGTGTCGCTCTCGTCTTGGGTTTAACGAATTCAGTCTGTCCAAAGAAGACGGGATGCCTGTCCCTGAG
CTCTACAACAGAATATTCCGGAACAGCTTTCTCATGGGCCCTGTGACCCCAGCACATGCAGGGACCTACAGATGTTGCAGTTCACACCCACACTCCCCCACTGGG
TGGTCGGCACCCAGCAACCCTGTGGTGATCATGGTCACAGGAGTCCACAGAAAACCTTCCCTCCTGGCCCACCCAGGTCCCCTGGTGAAATCGGGAGAGACGGTC
ATCCTGCAATGTTGGTCAGATGTCAGGTTTGAGCGCTTCCTTCTGCACAGAGAGGGGATCACTGAGGACCCCTTGCGCCTCGTTGGACAGCTCCACGATGCGGGT
TCCCAGGTCAACTATTCCATGGGTCCCATGACACCTGCCCTTGCAGGGACCTACAGATGCTTTGGTTCTGTCACTCACTTACCCTATGAGTTGTCGGCTCCCAGT
GACCCTCTGGACATCGTGGTCGTAGGTCTATATGGGAAACCTTCTCTCTCAGCCCAGCCGGGCCCCACGGTTCAGGCAGGAGAGAATGTGACCTTGTCCTGCAGC
TCCCGGAGCTTGTTTGACATTTACCATCTATCCAGGGAGGCAGAGGCCGGTGAACTTAGGCTCACTGCGGTGCTGAGGGTCAATGGAACATTCCAGGCCAACTTC
CCTCTGGGCCCTGTGACCCACGGAGGGAACTACAGATGCTTCGGCTCTTTCCGTGCCCTGCCCCACGCGTGGTCAGACCCGAGTGACCCACTGCCCGTTTCTGTC
ACAGGTAACTCCAGACACCTGCACGTTCTGATTGGGACCTCAGTGGTCATCATCCCCTTTGCTATCCTCCTCTTCTTTCTCCTTCATCGCTGGTGTGCCAACAAA
AAGAATGCTGTTGTAATGGACCAAGAGCCTGCAGGGAACAGAACAGTGAACAGGGAGGACTCTGATGAACAAGACCCTCAGGAGGTGACATACGCACAGTTGAAT
Show »

>KIR3DL3|115653|protein
MSLMVVSMACVGFFLLEGPWPHVGGQDKPFLSAWPGTVVSEGQHVTLQCRSRLGFNEFSLSKEDGMPVPELYNRIFRNSFLMGPVTPAHAGTYRCCSSHPHSPTG
WSAPSNPVVIMVTGVHRKPSLLAHPGPLVKSGETVILQCWSDVRFERFLLHREGITEDPLRLVGQLHDAGSQVNYSMGPMTPALAGTYRCFGSVTHLPYELSAPS
DPLDIVVVGLYGKPSLSAQPGPTVQAGENVTLSCSSRSLFDIYHLSREAEAGELRLTAVLRVNGTFQANFPLGPVTHGGNYRCFGSFRALPHAWSDPSDPLPVSV
TGNSRHLHVLIGTSVVIIPFAILLFFLLHRWCANKKNAVVMDQEPAGNRTVNREDSDEQDPQEVTYAQLNHCVFTQRKITRPSQRPKTPPTDTSV

Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (0) 1 (3) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top