Evidence Details for ZDHHC2
Basic Information Top
Gene Symbol: | ZDHHC2 ( DHHC2,ZNF372 ) |
---|---|
Gene Full Name: | zinc finger, DHHC-type containing 2 |
Band: | 8p22 |
Quick Links | Entrez ID:51201; OMIM: NA; Uniprot ID:ZDHC2_HUMAN; ENSEMBL ID: ENSG00000104219; HGNC ID: 18469 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ZDHHC2|51201|nucleotide
ATGGCGCCCTCGGGCCCGGGCAGCAGCGCCAGGCGGCGGTGCCGGCGGGTGCTGTACTGGATCCCGGTGGTGTTCATCACCCTCCTGCTCGGCTGGTCCTACTAC
GCCTACGCCATCCAGCTGTGCATAGTGTCCATGGAAAACACTGGCGAACAAGTTGTGTGCCTGATGGCCTATCATCTACTTTTTGCAATGTTTGTCTGGTCATAC
TGGAAAACTATCTTTACATTACCAATGAATCCTTCAAAAGAATTCCATCTCTCTTATGCAGAGAAAGATTTGTTGGAGAGAGAGCCAAGAGGAGAAGCCCATCAG
GAAGTTCTTAGGCGAGCAGCCAAGGATCTTCCCATCTATACCAGGACCATGTCTGGAGCCATCCGATACTGTGACAGATGCCAACTTATAAAACCAGATCGCTGC
CATCACTGCTCCGTCTGTGATAAATGTATTTTGAAGATGGATCATCATTGTCCATGGGTGAACAATTGTGTTGGATTTTCAAATTATAAGTTCTTTCTCCTTTTC
TTGGCTTATTCTCTGCTCTACTGCCTTTTTATTGCGGCAACAGATTTACAGTATTTTATCAAATTTTGGACAAATGGCCTACCTGATACTCAAGCCAAGTTCCAT
ATTATGTTTTTATTCTTTGCTGCAGCTATGTTTTCTGTCAGCTTGTCTTCTCTGTTTGGCTATCATTGTTGGCTAGTCAGCAAAAATAAATCTACATTAGAGGCA
TTCAGAAGTCCAGTATTTCGACATGGAACAGATAAGAATGGATTCAGCTTGGGTTTCAGTAAAAACATGCGACAAGTTTTTGGTGATGAGAAGAAGTACTGGTTG
CTACCCATTTTTTCAAGTCTAGGTGATGGCTGCTCCTTTCCAACTTGCCTTGTTAACCAGGATCCTGAACAAGCATCTACTCCTGCAGGGCTGAATTCCACAGCT
AAAAATCTCGAAAACCATCAGTTTCCTGCAAAGCCATTGAGAGAGTCCCAGAGCCACCTTCTTACTGATTCTCAGTCTTGGACGGAGAGCAGCATAAACCCAGGA
AAATGCAAAGCTGGTATGAGCAATCCTGCATTAACCATGGAAAATGAGACTTAA
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ATGGCGCCCTCGGGCCCGGGCAGCAGCGCCAGGCGGCGGTGCCGGCGGGTGCTGTACTGGATCCCGGTGGTGTTCATCACCCTCCTGCTCGGCTGGTCCTACTAC
GCCTACGCCATCCAGCTGTGCATAGTGTCCATGGAAAACACTGGCGAACAAGTTGTGTGCCTGATGGCCTATCATCTACTTTTTGCAATGTTTGTCTGGTCATAC
TGGAAAACTATCTTTACATTACCAATGAATCCTTCAAAAGAATTCCATCTCTCTTATGCAGAGAAAGATTTGTTGGAGAGAGAGCCAAGAGGAGAAGCCCATCAG
GAAGTTCTTAGGCGAGCAGCCAAGGATCTTCCCATCTATACCAGGACCATGTCTGGAGCCATCCGATACTGTGACAGATGCCAACTTATAAAACCAGATCGCTGC
CATCACTGCTCCGTCTGTGATAAATGTATTTTGAAGATGGATCATCATTGTCCATGGGTGAACAATTGTGTTGGATTTTCAAATTATAAGTTCTTTCTCCTTTTC
TTGGCTTATTCTCTGCTCTACTGCCTTTTTATTGCGGCAACAGATTTACAGTATTTTATCAAATTTTGGACAAATGGCCTACCTGATACTCAAGCCAAGTTCCAT
ATTATGTTTTTATTCTTTGCTGCAGCTATGTTTTCTGTCAGCTTGTCTTCTCTGTTTGGCTATCATTGTTGGCTAGTCAGCAAAAATAAATCTACATTAGAGGCA
TTCAGAAGTCCAGTATTTCGACATGGAACAGATAAGAATGGATTCAGCTTGGGTTTCAGTAAAAACATGCGACAAGTTTTTGGTGATGAGAAGAAGTACTGGTTG
CTACCCATTTTTTCAAGTCTAGGTGATGGCTGCTCCTTTCCAACTTGCCTTGTTAACCAGGATCCTGAACAAGCATCTACTCCTGCAGGGCTGAATTCCACAGCT
AAAAATCTCGAAAACCATCAGTTTCCTGCAAAGCCATTGAGAGAGTCCCAGAGCCACCTTCTTACTGATTCTCAGTCTTGGACGGAGAGCAGCATAAACCCAGGA
AAATGCAAAGCTGGTATGAGCAATCCTGCATTAACCATGGAAAATGAGACTTAA
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>ZDHHC2|51201|protein
MAPSGPGSSARRRCRRVLYWIPVVFITLLLGWSYYAYAIQLCIVSMENTGEQVVCLMAYHLLFAMFVWSYWKTIFTLPMNPSKEFHLSYAEKDLLEREPRGEAHQ
EVLRRAAKDLPIYTRTMSGAIRYCDRCQLIKPDRCHHCSVCDKCILKMDHHCPWVNNCVGFSNYKFFLLFLAYSLLYCLFIAATDLQYFIKFWTNGLPDTQAKFH
IMFLFFAAAMFSVSLSSLFGYHCWLVSKNKSTLEAFRSPVFRHGTDKNGFSLGFSKNMRQVFGDEKKYWLLPIFSSLGDGCSFPTCLVNQDPEQASTPAGLNSTA
KNLENHQFPAKPLRESQSHLLTDSQSWTESSINPGKCKAGMSNPALTMENET
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MAPSGPGSSARRRCRRVLYWIPVVFITLLLGWSYYAYAIQLCIVSMENTGEQVVCLMAYHLLFAMFVWSYWKTIFTLPMNPSKEFHLSYAEKDLLEREPRGEAHQ
EVLRRAAKDLPIYTRTMSGAIRYCDRCQLIKPDRCHHCSVCDKCILKMDHHCPWVNNCVGFSNYKFFLLFLAYSLLYCLFIAATDLQYFIKFWTNGLPDTQAKFH
IMFLFFAAAMFSVSLSSLFGYHCWLVSKNKSTLEAFRSPVFRHGTDKNGFSLGFSKNMRQVFGDEKKYWLLPIFSSLGDGCSFPTCLVNQDPEQASTPAGLNSTA
KNLENHQFPAKPLRESQSHLLTDSQSWTESSINPGKCKAGMSNPALTMENET
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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 (0) | 1 (3) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 14 (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 | ||||||
Papanikolaou, 2006 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Ozgen, 2009 | - | aCGH, SNP microarray | ASD | 55 | - | - | - | - | - | - | ||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Monaco, 2001 | - | microsatellite-based genomic screen | PDD | 152 | - | 152 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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