Evidence Details for GZMH
Basic Information Top
| Gene Symbol: | GZMH ( CCP-X,CGL-2,CSP-C,CTLA1,CTSGL2 ) |
|---|---|
| Gene Full Name: | granzyme H (cathepsin G-like 2, protein h-CCPX) |
| Band: | 14q12 |
| Quick Links | Entrez ID:2999; OMIM: 116831; Uniprot ID:GRAH_HUMAN; ENSEMBL ID: ENSG00000100450; HGNC ID: 4710 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GZMH|2999|nucleotide
ATGCAGCCATTCCTCCTCCTGTTGGCCTTTCTTCTGACCCCTGGGGCTGGGACAGAGGAGATCATCGGGGGCCATGAGGCCAAGCCCCACTCCCGCCCCTACATG
GCCTTTGTTCAGTTTCTGCAAGAGAAGAGTCGGAAGAGGTGTGGCGGCATCCTAGTGAGAAAGGACTTTGTGCTGACAGCTGCTCACTGCCAGGGAAGCTCCATA
AATGTCACCTTGGGGGCCCACAATATCAAGGAACAGGAGCGGACCCAGCAGTTTATCCCTGTGAAAAGACCCATCCCCCATCCAGCCTATAATCCTAAGAACTTC
TCCAACGACATCATGCTACTGCAGCTGGAGAGAAAGGCCAAGTGGACCACAGCTGTGCGGCCTCTCAGGCTACCTAGCAGCAAGGCCCAGGTGAAGCCAGGGCAG
CTGTGCAGTGTGGCTGGCTGGGGTTATGTCTCAATGAGCACTTTAGCAACCACACTGCAGGAAGTGTTGCTGACAGTGCAGAAGGACTGCCAGTGTGAACGTCTC
TTCCATGGCAATTACAGCAGAGCCACTGAGATTTGTGTGGGGGATCCAAAGAAGACACAGACCGGTTTCAAGGGGGACTCCGGGGGGCCCCTCGTGTGTAAGGAC
GTAGCCCAAGGTATTCTCTCCTATGGAAACAAAAAAGGGACACCTCCAGGAGTCTACATCAAGGTCTCACACTTCCTGCCCTGGATAAAGAGAACAATGAAGCGC
CTCTAA
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ATGCAGCCATTCCTCCTCCTGTTGGCCTTTCTTCTGACCCCTGGGGCTGGGACAGAGGAGATCATCGGGGGCCATGAGGCCAAGCCCCACTCCCGCCCCTACATG
GCCTTTGTTCAGTTTCTGCAAGAGAAGAGTCGGAAGAGGTGTGGCGGCATCCTAGTGAGAAAGGACTTTGTGCTGACAGCTGCTCACTGCCAGGGAAGCTCCATA
AATGTCACCTTGGGGGCCCACAATATCAAGGAACAGGAGCGGACCCAGCAGTTTATCCCTGTGAAAAGACCCATCCCCCATCCAGCCTATAATCCTAAGAACTTC
TCCAACGACATCATGCTACTGCAGCTGGAGAGAAAGGCCAAGTGGACCACAGCTGTGCGGCCTCTCAGGCTACCTAGCAGCAAGGCCCAGGTGAAGCCAGGGCAG
CTGTGCAGTGTGGCTGGCTGGGGTTATGTCTCAATGAGCACTTTAGCAACCACACTGCAGGAAGTGTTGCTGACAGTGCAGAAGGACTGCCAGTGTGAACGTCTC
TTCCATGGCAATTACAGCAGAGCCACTGAGATTTGTGTGGGGGATCCAAAGAAGACACAGACCGGTTTCAAGGGGGACTCCGGGGGGCCCCTCGTGTGTAAGGAC
GTAGCCCAAGGTATTCTCTCCTATGGAAACAAAAAAGGGACACCTCCAGGAGTCTACATCAAGGTCTCACACTTCCTGCCCTGGATAAAGAGAACAATGAAGCGC
CTCTAA
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>GZMH|2999|protein
MQPFLLLLAFLLTPGAGTEEIIGGHEAKPHSRPYMAFVQFLQEKSRKRCGGILVRKDFVLTAAHCQGSSINVTLGAHNIKEQERTQQFIPVKRPIPHPAYNPKNF
SNDIMLLQLERKAKWTTAVRPLRLPSSKAQVKPGQLCSVAGWGYVSMSTLATTLQEVLLTVQKDCQCERLFHGNYSRATEICVGDPKKTQTGFKGDSGGPLVCKD
VAQGILSYGNKKGTPPGVYIKVSHFLPWIKRTMKRL
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MQPFLLLLAFLLTPGAGTEEIIGGHEAKPHSRPYMAFVQFLQEKSRKRCGGILVRKDFVLTAAHCQGSSINVTLGAHNIKEQERTQQFIPVKRPIPHPAYNPKNF
SNDIMLLQLERKAKWTTAVRPLRLPSSKAQVKPGQLCSVAGWGYVSMSTLATTLQEVLLTVQKDCQCERLFHGNYSRATEICVGDPKKTQTGFKGDSGGPLVCKD
VAQGILSYGNKKGTPPGVYIKVSHFLPWIKRTMKRL
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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) | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen |  | | PDD | 99 | - | 99 | - | - | - | - |
| Auranen, 2002 | Finland | microsatellite-based genomic screen |  | | autism | 19 | - | 19 | - | 54 | - | - |
| Ma, 2007 | USA | SNP-based genomic screen | | | autism | 26 | - | 26 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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.