Evidence Details for ZNHIT6
Basic Information Top
Gene Symbol: | ZNHIT6 ( BCD1,C1orf181,FLJ12602,FLJ20729,FLJ20760,MGC131963,NY-BR-75 ) |
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Gene Full Name: | zinc finger, HIT-type containing 6 |
Band: | 1p22.3 |
Quick Links | Entrez ID:54680; OMIM: NA; Uniprot ID:BCD1_HUMAN; ENSEMBL ID: ENSG00000117174; HGNC ID: 26089 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ZNHIT6|54680|nucleotide
ATGGAGTTTGCTGCTGAAAATGAAGGGAAGTCTGGGGGAGGTCTCCACAGCGTAGCTGAGGGGGTGCGGCTAAGTCCAGAGCCTGGCAGGGAGGGAGTAAGGGAC
TTAGCAGGGGCGGAGGAGTTCGGCGGCGGAGAGGAGGGGACAGGGCTGACAGGGATAAAGGAGATAGGGGATGGAGAGGAAGGAAGTGGACAAAGGCCAGAGGAA
ATACCGATGGACCTAACGGTAGTGAAGCAGGAGACGGATAGTAGTTTAGTGGTAAAAGAAGCGAAGGTGGGTGAACCAGAGGTAAAGGAAGAGAAGGTAAAGGAA
GAGGTAATGGACTGGTCAGAAGTGAAGGAAGAGAAGGATAACTTGGAGATAAAACAGGAGGAGAAGTTTGTTGGTCAATGCATAAAAGAGGAATTGATGCATGGA
GAGTGTGTAAAAGAAGAGAAGGATTTCCTGAAGAAAGAAATCGTGGATGATACAAAGGTGAAAGAAGAGCCTCCGATAAATCACCCGGTGGGCTGCAAGCGGAAA
CTGGCCATGTCAAGGTGTGAGACTTGTGGTACAGAAGAAGCAAAGTACAGATGTCCACGTTGTATGCGATATTCCTGCAGTTTGCCCTGTGTAAAGAAACACAAA
GCAGAACTGACATGTAATGGAGTTCGAGATAAAACTGCATACATTTCAATACAACAGTTTACTGAAATGAATCTCCTAAGTGATTATCGATTTTTGGAAGATGTG
GCAAGAACAGCGGACCATATTTCTAGAGATGCTTTTTTGAAGAGACCAATAAGCAATAAATATATGTACTTTATGAAAAATCGTGCCCGGAGGCAAGGTATTAAC
TTAAAACTTCTACCCAATGGATTCACCAAGAGGAAGGAGAATTCAACCTTTTTTGATAAGAAAAAACAACAGTTTTGTTGGCATGTGAAGCTCCAGTTTCCTCAA
AGTCAAGCTGAGTACATAGAAAAAAGAGTACCAGATGATAAAACTATTAATGAAATCCTAAAACCTTACATTGATCCTGAAAAGTCTGATCCTGTAATTCGTCAA
AGGTTGAAAGCCTACATTCGCTCTCAGACTGGGGTTCAGATTTTAATGAAGATTGAATATATGCAGCAAAATTTAGTAAGATATTATGAACTAGATCCTTATAAA
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ATGGAGTTTGCTGCTGAAAATGAAGGGAAGTCTGGGGGAGGTCTCCACAGCGTAGCTGAGGGGGTGCGGCTAAGTCCAGAGCCTGGCAGGGAGGGAGTAAGGGAC
TTAGCAGGGGCGGAGGAGTTCGGCGGCGGAGAGGAGGGGACAGGGCTGACAGGGATAAAGGAGATAGGGGATGGAGAGGAAGGAAGTGGACAAAGGCCAGAGGAA
ATACCGATGGACCTAACGGTAGTGAAGCAGGAGACGGATAGTAGTTTAGTGGTAAAAGAAGCGAAGGTGGGTGAACCAGAGGTAAAGGAAGAGAAGGTAAAGGAA
GAGGTAATGGACTGGTCAGAAGTGAAGGAAGAGAAGGATAACTTGGAGATAAAACAGGAGGAGAAGTTTGTTGGTCAATGCATAAAAGAGGAATTGATGCATGGA
GAGTGTGTAAAAGAAGAGAAGGATTTCCTGAAGAAAGAAATCGTGGATGATACAAAGGTGAAAGAAGAGCCTCCGATAAATCACCCGGTGGGCTGCAAGCGGAAA
CTGGCCATGTCAAGGTGTGAGACTTGTGGTACAGAAGAAGCAAAGTACAGATGTCCACGTTGTATGCGATATTCCTGCAGTTTGCCCTGTGTAAAGAAACACAAA
GCAGAACTGACATGTAATGGAGTTCGAGATAAAACTGCATACATTTCAATACAACAGTTTACTGAAATGAATCTCCTAAGTGATTATCGATTTTTGGAAGATGTG
GCAAGAACAGCGGACCATATTTCTAGAGATGCTTTTTTGAAGAGACCAATAAGCAATAAATATATGTACTTTATGAAAAATCGTGCCCGGAGGCAAGGTATTAAC
TTAAAACTTCTACCCAATGGATTCACCAAGAGGAAGGAGAATTCAACCTTTTTTGATAAGAAAAAACAACAGTTTTGTTGGCATGTGAAGCTCCAGTTTCCTCAA
AGTCAAGCTGAGTACATAGAAAAAAGAGTACCAGATGATAAAACTATTAATGAAATCCTAAAACCTTACATTGATCCTGAAAAGTCTGATCCTGTAATTCGTCAA
AGGTTGAAAGCCTACATTCGCTCTCAGACTGGGGTTCAGATTTTAATGAAGATTGAATATATGCAGCAAAATTTAGTAAGATATTATGAACTAGATCCTTATAAA
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>ZNHIT6|54680|protein
MEFAAENEGKSGGGLHSVAEGVRLSPEPGREGVRDLAGAEEFGGGEEGTGLTGIKEIGDGEEGSGQRPEEIPMDLTVVKQETDSSLVVKEAKVGEPEVKEEKVKE
EVMDWSEVKEEKDNLEIKQEEKFVGQCIKEELMHGECVKEEKDFLKKEIVDDTKVKEEPPINHPVGCKRKLAMSRCETCGTEEAKYRCPRCMRYSCSLPCVKKHK
AELTCNGVRDKTAYISIQQFTEMNLLSDYRFLEDVARTADHISRDAFLKRPISNKYMYFMKNRARRQGINLKLLPNGFTKRKENSTFFDKKKQQFCWHVKLQFPQ
SQAEYIEKRVPDDKTINEILKPYIDPEKSDPVIRQRLKAYIRSQTGVQILMKIEYMQQNLVRYYELDPYKSLLDNLRNKVIIEYPTLHVVLKGSNNDMKVLHQVK
SESTKNVGNEN
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MEFAAENEGKSGGGLHSVAEGVRLSPEPGREGVRDLAGAEEFGGGEEGTGLTGIKEIGDGEEGSGQRPEEIPMDLTVVKQETDSSLVVKEAKVGEPEVKEEKVKE
EVMDWSEVKEEKDNLEIKQEEKFVGQCIKEELMHGECVKEEKDFLKKEIVDDTKVKEEPPINHPVGCKRKLAMSRCETCGTEEAKYRCPRCMRYSCSLPCVKKHK
AELTCNGVRDKTAYISIQQFTEMNLLSDYRFLEDVARTADHISRDAFLKRPISNKYMYFMKNRARRQGINLKLLPNGFTKRKENSTFFDKKKQQFCWHVKLQFPQ
SQAEYIEKRVPDDKTINEILKPYIDPEKSDPVIRQRLKAYIRSQTGVQILMKIEYMQQNLVRYYELDPYKSLLDNLRNKVIIEYPTLHVVLKGSNNDMKVLHQVK
SESTKNVGNEN
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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 |
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Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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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