Evidence Details for ZNF530
Basic Information Top
Gene Symbol: | ZNF530 ( KIAA1508 ) |
---|---|
Gene Full Name: | zinc finger protein 530 |
Band: | 19q13.43 |
Quick Links | Entrez ID:348327; OMIM: NA; Uniprot ID:ZN530_HUMAN; ENSEMBL ID: ENSG00000183647; HGNC ID: 29297 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ZNF530|348327|nucleotide
ATGGCGGCGGCACTGAGGGCCCCGACCCAGCAGGTTTTTGTAGCCTTTGAGGATGTGGCCATTTACTTCTCCCAGGAGGAGTGGGAGCTCCTTGATGAGATGCAG
AGGCTCCTGTACCGCGATGTGATGCTGGAGAACTTTGCAGTTATGGCATCCCTAGGTTGCTGGTGTGGAGCAGTAGATGAGGGGACGCCTTCTGCAGAGAGCGTT
TCTGTGGAAGAACTGTCACAGGGCAGGACTCCAAAGGCAGATACATCCACTGATAAGAGTCACCCCTGTGAGATTTGTACCCCAGTCCTGAGAGACATTTTACAA
ATGATTGAGCTCCATGCCTCACCCTGTGGACAGAAATTGTACTTGGGTGGAGCATCAAGAGATTTCTGGATGAGTTCAAACCTTCACCAGCTCCAGAAGCTTGAT
AATGGAGAGAAGCTCTTTAAAGTGGATGGGGACCAGGCCTCATTTATGATGAACTGCAGGTTCCATGTGTCAGGAAAACCCTTCACGTTTGGGGAAGTCGGGAGG
GACTTTTCAGCCACCTCAGGACTTCTCCAGCATCAGGTGACTCCCACCATTGAGAGACCACACAGCAGGATTAGACACTTGAGAGTTCCCACTGGACGAAAGCCT
CTCAAATACACTGAATCCAGGAAATCTTTTAGAGAGAAATCTGTATTCATTCAACACCAAAGAGCTGACTCTGGAGAAAGGCCTTACAAGTGCAGTGAATGTGGG
AAATCCTTTAGTCAAAGTTCTGGCTTTCTTCGACACAGGAAAGCACACGGTAGAACAAGGACTCATGAATGTAGTGAATGTGGGAAATCATTTAGTCGCAAAACT
CACCTAACTCAACACCAAAGAGTTCACACTGGAGAAAGGCCTTATGACTGCAGTGAATGTGGCAAATCCTTTCGCCAGGTATCTGTCCTCATTCAACATCAACGA
GTTCACACTGGAGAAAGGCCTTATGAGTGCAGTGAATGTGGGAAATCTTTTAGCCACAGCACTAACCTCTATCGTCACAGGAGTGCCCACACTAGCACAAGGCCT
TATGAGTGCAGTGAATGTGGAAAATCCTTTAGCCATAGCACTAACCTCTTTCGACACTGGAGAGTTCACACTGGAGTAAGGCCTTATGAGTGTAGTGAATGTGGG
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ATGGCGGCGGCACTGAGGGCCCCGACCCAGCAGGTTTTTGTAGCCTTTGAGGATGTGGCCATTTACTTCTCCCAGGAGGAGTGGGAGCTCCTTGATGAGATGCAG
AGGCTCCTGTACCGCGATGTGATGCTGGAGAACTTTGCAGTTATGGCATCCCTAGGTTGCTGGTGTGGAGCAGTAGATGAGGGGACGCCTTCTGCAGAGAGCGTT
TCTGTGGAAGAACTGTCACAGGGCAGGACTCCAAAGGCAGATACATCCACTGATAAGAGTCACCCCTGTGAGATTTGTACCCCAGTCCTGAGAGACATTTTACAA
ATGATTGAGCTCCATGCCTCACCCTGTGGACAGAAATTGTACTTGGGTGGAGCATCAAGAGATTTCTGGATGAGTTCAAACCTTCACCAGCTCCAGAAGCTTGAT
AATGGAGAGAAGCTCTTTAAAGTGGATGGGGACCAGGCCTCATTTATGATGAACTGCAGGTTCCATGTGTCAGGAAAACCCTTCACGTTTGGGGAAGTCGGGAGG
GACTTTTCAGCCACCTCAGGACTTCTCCAGCATCAGGTGACTCCCACCATTGAGAGACCACACAGCAGGATTAGACACTTGAGAGTTCCCACTGGACGAAAGCCT
CTCAAATACACTGAATCCAGGAAATCTTTTAGAGAGAAATCTGTATTCATTCAACACCAAAGAGCTGACTCTGGAGAAAGGCCTTACAAGTGCAGTGAATGTGGG
AAATCCTTTAGTCAAAGTTCTGGCTTTCTTCGACACAGGAAAGCACACGGTAGAACAAGGACTCATGAATGTAGTGAATGTGGGAAATCATTTAGTCGCAAAACT
CACCTAACTCAACACCAAAGAGTTCACACTGGAGAAAGGCCTTATGACTGCAGTGAATGTGGCAAATCCTTTCGCCAGGTATCTGTCCTCATTCAACATCAACGA
GTTCACACTGGAGAAAGGCCTTATGAGTGCAGTGAATGTGGGAAATCTTTTAGCCACAGCACTAACCTCTATCGTCACAGGAGTGCCCACACTAGCACAAGGCCT
TATGAGTGCAGTGAATGTGGAAAATCCTTTAGCCATAGCACTAACCTCTTTCGACACTGGAGAGTTCACACTGGAGTAAGGCCTTATGAGTGTAGTGAATGTGGG
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>ZNF530|348327|protein
MAAALRAPTQQVFVAFEDVAIYFSQEEWELLDEMQRLLYRDVMLENFAVMASLGCWCGAVDEGTPSAESVSVEELSQGRTPKADTSTDKSHPCEICTPVLRDILQ
MIELHASPCGQKLYLGGASRDFWMSSNLHQLQKLDNGEKLFKVDGDQASFMMNCRFHVSGKPFTFGEVGRDFSATSGLLQHQVTPTIERPHSRIRHLRVPTGRKP
LKYTESRKSFREKSVFIQHQRADSGERPYKCSECGKSFSQSSGFLRHRKAHGRTRTHECSECGKSFSRKTHLTQHQRVHTGERPYDCSECGKSFRQVSVLIQHQR
VHTGERPYECSECGKSFSHSTNLYRHRSAHTSTRPYECSECGKSFSHSTNLFRHWRVHTGVRPYECSECGKAFSCNIYLIHHQRFHTGERPYVCSECGKSFGQKS
VLIQHQRVHTGERPYECSECGKVFSQSSGLFRHRRAHTKTKPYECSECEKSFSCKTDLIRHQTVHTGERPYECSVCGKSFIRKTHLIRHQTVHTNERPYECDECG
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MAAALRAPTQQVFVAFEDVAIYFSQEEWELLDEMQRLLYRDVMLENFAVMASLGCWCGAVDEGTPSAESVSVEELSQGRTPKADTSTDKSHPCEICTPVLRDILQ
MIELHASPCGQKLYLGGASRDFWMSSNLHQLQKLDNGEKLFKVDGDQASFMMNCRFHVSGKPFTFGEVGRDFSATSGLLQHQVTPTIERPHSRIRHLRVPTGRKP
LKYTESRKSFREKSVFIQHQRADSGERPYKCSECGKSFSQSSGFLRHRKAHGRTRTHECSECGKSFSRKTHLTQHQRVHTGERPYDCSECGKSFRQVSVLIQHQR
VHTGERPYECSECGKSFSHSTNLYRHRSAHTSTRPYECSECGKSFSHSTNLFRHWRVHTGVRPYECSECGKAFSCNIYLIHHQRFHTGERPYVCSECGKSFGQKS
VLIQHQRVHTGERPYECSECGKVFSQSSGLFRHRRAHTKTKPYECSECEKSFSCKTDLIRHQTVHTGERPYECSVCGKSFIRKTHLIRHQTVHTNERPYECDECG
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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 (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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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