Evidence Details for ZNF683
Basic Information Top
| Gene Symbol: | ZNF683 ( MGC33414 ) |
|---|---|
| Gene Full Name: | zinc finger protein 683 |
| Band: | 1p36.11 |
| Quick Links | Entrez ID:257101; OMIM: NA; Uniprot ID:ZN683_HUMAN; ENSEMBL ID: ENSG00000176083; HGNC ID: 28495 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ZNF683|257101|nucleotide
ATGAAGGAAGAATCAGCTGCACAATTAGGTTGTTGTCATAGGCCCATGGCCCTGGGAGGTACAGGGGGCTCCCTGTCCCCCAGCCTGGACTTCCAGCTCTTCCGA
GGTGACCAGGTCTTCTCAGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCCCATCCTGTGCCAGCTGGCTGTGTCCCTTGCCCCTGGCACCGGGCAGG
TCTGCACTGCTGGCCTGCCTACAGGACCTGGACCTGAACCTGTGCACCCCACAGCCGGCACCCCTGGGCACAGACCTGCAGGGCCTCCAAGAGGACGCCTTGAGC
ATGAAGCACGAGCCACCAGGGCTGCAGGCCAGCTCCACCGATGACAAGAAATTCACAGTCAAGTACCCACAGAACAAGGACAAGCTGGGAAAACAGCCAGAAAGA
GCTGGCGAGGGGGCCCCCTGCCCAGCCTTCTCCTCTCATAACAGCTCTTCCCCACCACCGCTGCAGAACAGAAAGAGCCCCAGCCCCTTGGCTTTCTGCCCCTGT
CCCCCTGTCAACTCCATCTCCAAGGAGCTCCCATTTCTCCTCCACGCCTTCTACCCTGGATACCCACTTCTCCTGCCTCCACCCCACCTGTTCACCTATGGGGCC
CTACCTTCTGACCAATGTCCCCACCTCCTCATGCTGCCCCAAGACCCCTCCTACCCCACCATGGCTATGCCTAGCCTGCTGATGATGGTCAATGAGCTGGGGCAC
CCCAGCGCTCGGTGGGAGACCCTGCTTCCCTACCCAGGGGCCTTCCAAGCCTCTGGCCAAGCTCTGCCTTCCCAGGCCCGAAATCCAGGTGCTGGAGCTGCCCCA
ACCGACTCCCCAGGCCTGGAGCGTGGTGGCATGGCATCTCCAGCAAAGCGGGTCCCATTGAGTTCCCAGACAGGCACCGCAGCCTTGCCTTACCCGCTGAAAAAG
AAGAATGGCAAAATCCTGTACGAGTGCAACATATGTGGCAAGAGCTTTGGGCAGCTCTCCAATCTCAAGGTCCACCTGCGTGTGCACAGTGGAGAGCGTCCATTC
CAGTGTGCCTTGTGCCAGAAGAGCTTCACTCAACTTGCCCACCTGCAGAAGCACCACCTGGTGCACACTGGGGAGCGGCCCCACAAGTGCTCGGTGTGCCACAAG
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ATGAAGGAAGAATCAGCTGCACAATTAGGTTGTTGTCATAGGCCCATGGCCCTGGGAGGTACAGGGGGCTCCCTGTCCCCCAGCCTGGACTTCCAGCTCTTCCGA
GGTGACCAGGTCTTCTCAGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCCCATCCTGTGCCAGCTGGCTGTGTCCCTTGCCCCTGGCACCGGGCAGG
TCTGCACTGCTGGCCTGCCTACAGGACCTGGACCTGAACCTGTGCACCCCACAGCCGGCACCCCTGGGCACAGACCTGCAGGGCCTCCAAGAGGACGCCTTGAGC
ATGAAGCACGAGCCACCAGGGCTGCAGGCCAGCTCCACCGATGACAAGAAATTCACAGTCAAGTACCCACAGAACAAGGACAAGCTGGGAAAACAGCCAGAAAGA
GCTGGCGAGGGGGCCCCCTGCCCAGCCTTCTCCTCTCATAACAGCTCTTCCCCACCACCGCTGCAGAACAGAAAGAGCCCCAGCCCCTTGGCTTTCTGCCCCTGT
CCCCCTGTCAACTCCATCTCCAAGGAGCTCCCATTTCTCCTCCACGCCTTCTACCCTGGATACCCACTTCTCCTGCCTCCACCCCACCTGTTCACCTATGGGGCC
CTACCTTCTGACCAATGTCCCCACCTCCTCATGCTGCCCCAAGACCCCTCCTACCCCACCATGGCTATGCCTAGCCTGCTGATGATGGTCAATGAGCTGGGGCAC
CCCAGCGCTCGGTGGGAGACCCTGCTTCCCTACCCAGGGGCCTTCCAAGCCTCTGGCCAAGCTCTGCCTTCCCAGGCCCGAAATCCAGGTGCTGGAGCTGCCCCA
ACCGACTCCCCAGGCCTGGAGCGTGGTGGCATGGCATCTCCAGCAAAGCGGGTCCCATTGAGTTCCCAGACAGGCACCGCAGCCTTGCCTTACCCGCTGAAAAAG
AAGAATGGCAAAATCCTGTACGAGTGCAACATATGTGGCAAGAGCTTTGGGCAGCTCTCCAATCTCAAGGTCCACCTGCGTGTGCACAGTGGAGAGCGTCCATTC
CAGTGTGCCTTGTGCCAGAAGAGCTTCACTCAACTTGCCCACCTGCAGAAGCACCACCTGGTGCACACTGGGGAGCGGCCCCACAAGTGCTCGGTGTGCCACAAG
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>ZNF683|257101|protein
MKEESAAQLGCCHRPMALGGTGGSLSPSLDFQLFRGDQVFSACRPLPDMVDAHGPSCASWLCPLPLAPGRSALLACLQDLDLNLCTPQPAPLGTDLQGLQEDALS
MKHEPPGLQASSTDDKKFTVKYPQNKDKLGKQPERAGEGAPCPAFSSHNSSSPPPLQNRKSPSPLAFCPCPPVNSISKELPFLLHAFYPGYPLLLPPPHLFTYGA
LPSDQCPHLLMLPQDPSYPTMAMPSLLMMVNELGHPSARWETLLPYPGAFQASGQALPSQARNPGAGAAPTDSPGLERGGMASPAKRVPLSSQTGTAALPYPLKK
KNGKILYECNICGKSFGQLSNLKVHLRVHSGERPFQCALCQKSFTQLAHLQKHHLVHTGERPHKCSVCHKRFSSSSNLKTHLRLHSGARPFQCSVCRSRFTQHIH
LKLHHRLHAPQPCGLVHTQLPLASLACLAQWHQGALDLMAVASEKHMGYDIDEVKVSSTSQGKARAVSLSSAGTPLVMGQDQNN
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MKEESAAQLGCCHRPMALGGTGGSLSPSLDFQLFRGDQVFSACRPLPDMVDAHGPSCASWLCPLPLAPGRSALLACLQDLDLNLCTPQPAPLGTDLQGLQEDALS
MKHEPPGLQASSTDDKKFTVKYPQNKDKLGKQPERAGEGAPCPAFSSHNSSSPPPLQNRKSPSPLAFCPCPPVNSISKELPFLLHAFYPGYPLLLPPPHLFTYGA
LPSDQCPHLLMLPQDPSYPTMAMPSLLMMVNELGHPSARWETLLPYPGAFQASGQALPSQARNPGAGAAPTDSPGLERGGMASPAKRVPLSSQTGTAALPYPLKK
KNGKILYECNICGKSFGQLSNLKVHLRVHSGERPFQCALCQKSFTQLAHLQKHHLVHTGERPHKCSVCHKRFSSSSNLKTHLRLHSGARPFQCSVCRSRFTQHIH
LKLHHRLHAPQPCGLVHTQLPLASLACLAQWHQGALDLMAVASEKHMGYDIDEVKVSSTSQGKARAVSLSSAGTPLVMGQDQNN
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 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
NGS Mosaic SNV Studies Top
NGS Other Studies Top
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Bi C, 2012 | China | GAII | ![]() | ![]() | - | - | - | - | 67 | - |
Low Scale Gene Studies Top
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