Evidence Details for C12orf35
Basic Information Top
Gene Symbol: | C12orf35 ( FLJ10652,FLJ20696 ) |
---|---|
Gene Full Name: | chromosome 12 open reading frame 35 |
Band: | 12p11.21 |
Quick Links | Entrez ID:55196; OMIM: NA; Uniprot ID:CL035_HUMAN; ENSEMBL ID: ENSG00000174718; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C12orf35|55196|nucleotide
ATGAATTGGAATGAAAAACCAAAGAGTGCTACATTACCACCACTGTATCCTAAAAGCCAGCCACCTTTTTTGCACCAGTCTTTAATAAACCAAATTACCACAACA
TCTCAGAGTTCTTTCAGCTATCCTGGAAGTAACCAAGAAGCATGCATGTATCCCGGTAATTCAAATCCAATTTCACAGCCACTGCTGAATATCCAAAATTATCCT
CAACAAATTTCTGTTTCTGATATGCATAATGGGACAGTTGTGGCCTCACACACTTCAGTAGAAAGAATAACATATGCAAATGTTAATGGACCCAAACAACTAACT
CACAATTTGCAGATGTCTTCAGGAGTTACCCAAAACGTATGGTTGAACTCACCAATGAGGAATCCTGTGCATTCTCATATAGGGGCAACTGTATCTCATCAAACT
GATTTTGGAGCTAACGTACCCAATATGCCGGCACTACAGAGTCAACTGATAACATCAGATACCTATTCTATGCAAATGCAGATGATCCCTTCTAATTCTACACGA
CTTCCTGTAGCTTACCAAGGAAATCAGGGACTTAACCAGTCTTTTTCAGAGCAACAGGTTGATTGGACACAACAGTGTATATCTAAGGGACTGACTTACCCAGAT
TACAGACCACCTCCAAAGCTATACCGTTACTCACCACAAAGCTTTTTACCAGATTCTACCATTCAAAAACAAAACTTTATACCACATACATCATTGCAAGTTAAA
AATAGTCAGCTTCTAAATTCTGTATTAACTTTACCATCAAGGCAGACCTCAGCTGTACCATCACAGCAGTATGCCACGCAAACTGACAAAAGACCTCCTCCTCCT
CCTTACAACTGTAGATATGGAAGCCAGCCTTTGCAAAGTACTCAGCATATTACTAAACACTTGTCTATGGAAGTTCCTCAGAGTCGAGAAATGCTGTCATCTGAA
ATAAGGACCAGCTTTCAACAGCAGTGGCAAAACCCTAATGAAAATGTCAGCACAATTGGAAATTTCACTAACTTGAAAGTAAATACCAACAGCAAACAGCCTTTT
AACAGTCCCATTAGATCTTCTGTGGATGGTGTTCAGACTCTTGCTCAAACTAATGAAGAGAAAATAATGGATTCTTGCAATCCAACTTCAAATCAAGTACTGGAC
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ATGAATTGGAATGAAAAACCAAAGAGTGCTACATTACCACCACTGTATCCTAAAAGCCAGCCACCTTTTTTGCACCAGTCTTTAATAAACCAAATTACCACAACA
TCTCAGAGTTCTTTCAGCTATCCTGGAAGTAACCAAGAAGCATGCATGTATCCCGGTAATTCAAATCCAATTTCACAGCCACTGCTGAATATCCAAAATTATCCT
CAACAAATTTCTGTTTCTGATATGCATAATGGGACAGTTGTGGCCTCACACACTTCAGTAGAAAGAATAACATATGCAAATGTTAATGGACCCAAACAACTAACT
CACAATTTGCAGATGTCTTCAGGAGTTACCCAAAACGTATGGTTGAACTCACCAATGAGGAATCCTGTGCATTCTCATATAGGGGCAACTGTATCTCATCAAACT
GATTTTGGAGCTAACGTACCCAATATGCCGGCACTACAGAGTCAACTGATAACATCAGATACCTATTCTATGCAAATGCAGATGATCCCTTCTAATTCTACACGA
CTTCCTGTAGCTTACCAAGGAAATCAGGGACTTAACCAGTCTTTTTCAGAGCAACAGGTTGATTGGACACAACAGTGTATATCTAAGGGACTGACTTACCCAGAT
TACAGACCACCTCCAAAGCTATACCGTTACTCACCACAAAGCTTTTTACCAGATTCTACCATTCAAAAACAAAACTTTATACCACATACATCATTGCAAGTTAAA
AATAGTCAGCTTCTAAATTCTGTATTAACTTTACCATCAAGGCAGACCTCAGCTGTACCATCACAGCAGTATGCCACGCAAACTGACAAAAGACCTCCTCCTCCT
CCTTACAACTGTAGATATGGAAGCCAGCCTTTGCAAAGTACTCAGCATATTACTAAACACTTGTCTATGGAAGTTCCTCAGAGTCGAGAAATGCTGTCATCTGAA
ATAAGGACCAGCTTTCAACAGCAGTGGCAAAACCCTAATGAAAATGTCAGCACAATTGGAAATTTCACTAACTTGAAAGTAAATACCAACAGCAAACAGCCTTTT
AACAGTCCCATTAGATCTTCTGTGGATGGTGTTCAGACTCTTGCTCAAACTAATGAAGAGAAAATAATGGATTCTTGCAATCCAACTTCAAATCAAGTACTGGAC
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>C12orf35|55196|protein
MNWNEKPKSATLPPLYPKSQPPFLHQSLINQITTTSQSSFSYPGSNQEACMYPGNSNPISQPLLNIQNYPQQISVSDMHNGTVVASHTSVERITYANVNGPKQLT
HNLQMSSGVTQNVWLNSPMRNPVHSHIGATVSHQTDFGANVPNMPALQSQLITSDTYSMQMQMIPSNSTRLPVAYQGNQGLNQSFSEQQVDWTQQCISKGLTYPD
YRPPPKLYRYSPQSFLPDSTIQKQNFIPHTSLQVKNSQLLNSVLTLPSRQTSAVPSQQYATQTDKRPPPPPYNCRYGSQPLQSTQHITKHLSMEVPQSREMLSSE
IRTSFQQQWQNPNENVSTIGNFTNLKVNTNSKQPFNSPIRSSVDGVQTLAQTNEEKIMDSCNPTSNQVLDTSVAKEKLVRDIKTLVEIKQKFSELARKIKINKDL
LMAAGCIKMTNTSYSEPAQNSKLSLKQTAKIQSGPQITPVMPENAERQTPTVVESAETNKTQCMLNSDIQEVNCRRFNQVDSVLPNPVYSEKRPMPDPSHDVKVL
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MNWNEKPKSATLPPLYPKSQPPFLHQSLINQITTTSQSSFSYPGSNQEACMYPGNSNPISQPLLNIQNYPQQISVSDMHNGTVVASHTSVERITYANVNGPKQLT
HNLQMSSGVTQNVWLNSPMRNPVHSHIGATVSHQTDFGANVPNMPALQSQLITSDTYSMQMQMIPSNSTRLPVAYQGNQGLNQSFSEQQVDWTQQCISKGLTYPD
YRPPPKLYRYSPQSFLPDSTIQKQNFIPHTSLQVKNSQLLNSVLTLPSRQTSAVPSQQYATQTDKRPPPPPYNCRYGSQPLQSTQHITKHLSMEVPQSREMLSSE
IRTSFQQQWQNPNENVSTIGNFTNLKVNTNSKQPFNSPIRSSVDGVQTLAQTNEEKIMDSCNPTSNQVLDTSVAKEKLVRDIKTLVEIKQKFSELARKIKINKDL
LMAAGCIKMTNTSYSEPAQNSKLSLKQTAKIQSGPQITPVMPENAERQTPTVVESAETNKTQCMLNSDIQEVNCRRFNQVDSVLPNPVYSEKRPMPDPSHDVKVL
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Soysal, 2011 | - | aCGH | - | - | ASD | - | - | - | - | 1 | - | 1 |
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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