Evidence Details for KIR3DL3
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 Links | Entrez 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
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ATGTCGCTCATGGTCGTCAGCATGGCGTGTGTTGGGTTCTTCTTGCTGGAGGGGCCCTGGCCACATGTGGGTGGTCAGGACAAGCCCTTCCTCTCTGCCTGGCCC
GGCACTGTGGTGTCTGAAGGACAACATGTGACTCTTCAGTGTCGCTCTCGTCTTGGGTTTAACGAATTCAGTCTGTCCAAAGAAGACGGGATGCCTGTCCCTGAG
CTCTACAACAGAATATTCCGGAACAGCTTTCTCATGGGCCCTGTGACCCCAGCACATGCAGGGACCTACAGATGTTGCAGTTCACACCCACACTCCCCCACTGGG
TGGTCGGCACCCAGCAACCCTGTGGTGATCATGGTCACAGGAGTCCACAGAAAACCTTCCCTCCTGGCCCACCCAGGTCCCCTGGTGAAATCGGGAGAGACGGTC
ATCCTGCAATGTTGGTCAGATGTCAGGTTTGAGCGCTTCCTTCTGCACAGAGAGGGGATCACTGAGGACCCCTTGCGCCTCGTTGGACAGCTCCACGATGCGGGT
TCCCAGGTCAACTATTCCATGGGTCCCATGACACCTGCCCTTGCAGGGACCTACAGATGCTTTGGTTCTGTCACTCACTTACCCTATGAGTTGTCGGCTCCCAGT
GACCCTCTGGACATCGTGGTCGTAGGTCTATATGGGAAACCTTCTCTCTCAGCCCAGCCGGGCCCCACGGTTCAGGCAGGAGAGAATGTGACCTTGTCCTGCAGC
TCCCGGAGCTTGTTTGACATTTACCATCTATCCAGGGAGGCAGAGGCCGGTGAACTTAGGCTCACTGCGGTGCTGAGGGTCAATGGAACATTCCAGGCCAACTTC
CCTCTGGGCCCTGTGACCCACGGAGGGAACTACAGATGCTTCGGCTCTTTCCGTGCCCTGCCCCACGCGTGGTCAGACCCGAGTGACCCACTGCCCGTTTCTGTC
ACAGGTAACTCCAGACACCTGCACGTTCTGATTGGGACCTCAGTGGTCATCATCCCCTTTGCTATCCTCCTCTTCTTTCTCCTTCATCGCTGGTGTGCCAACAAA
AAGAATGCTGTTGTAATGGACCAAGAGCCTGCAGGGAACAGAACAGTGAACAGGGAGGACTCTGATGAACAAGACCCTCAGGAGGTGACATACGCACAGTTGAAT
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>KIR3DL3|115653|protein
MSLMVVSMACVGFFLLEGPWPHVGGQDKPFLSAWPGTVVSEGQHVTLQCRSRLGFNEFSLSKEDGMPVPELYNRIFRNSFLMGPVTPAHAGTYRCCSSHPHSPTG
WSAPSNPVVIMVTGVHRKPSLLAHPGPLVKSGETVILQCWSDVRFERFLLHREGITEDPLRLVGQLHDAGSQVNYSMGPMTPALAGTYRCFGSVTHLPYELSAPS
DPLDIVVVGLYGKPSLSAQPGPTVQAGENVTLSCSSRSLFDIYHLSREAEAGELRLTAVLRVNGTFQANFPLGPVTHGGNYRCFGSFRALPHAWSDPSDPLPVSV
TGNSRHLHVLIGTSVVIIPFAILLFFLLHRWCANKKNAVVMDQEPAGNRTVNREDSDEQDPQEVTYAQLNHCVFTQRKITRPSQRPKTPPTDTSV
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MSLMVVSMACVGFFLLEGPWPHVGGQDKPFLSAWPGTVVSEGQHVTLQCRSRLGFNEFSLSKEDGMPVPELYNRIFRNSFLMGPVTPAHAGTYRCCSSHPHSPTG
WSAPSNPVVIMVTGVHRKPSLLAHPGPLVKSGETVILQCWSDVRFERFLLHREGITEDPLRLVGQLHDAGSQVNYSMGPMTPALAGTYRCFGSVTHLPYELSAPS
DPLDIVVVGLYGKPSLSAQPGPTVQAGENVTLSCSSRSLFDIYHLSREAEAGELRLTAVLRVNGTFQANFPLGPVTHGGNYRCFGSFRALPHAWSDPSDPLPVSV
TGNSRHLHVLIGTSVVIIPFAILLFFLLHRWCANKKNAVVMDQEPAGNRTVNREDSDEQDPQEVTYAQLNHCVFTQRKITRPSQRPKTPPTDTSV
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Evidence summary TopClick 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 TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
| Gregory, 2009 | USA | aCGH | |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
1.551 | Up | 0.0375 | |
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Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.