Evidence Details for CTBP2
Basic Information Top
Gene Symbol: | CTBP2 ( - ) |
---|---|
Gene Full Name: | C-terminal binding protein 2 |
Band: | 10q26.13 |
Quick Links | Entrez ID:1488; OMIM: 602619; Uniprot ID:CTBP2_HUMAN; ENSEMBL ID: ENSG00000175029; HGNC ID: 2495 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CTBP2|1488|nucleotide
ATGGCCCTTGTGGATAAGCACAAAGTCAAGAGACAGCGATTGGACAGAATTTGTGAAGGTATCCGCCCCCAGATCATGAACGGCCCCCTGCACCCCCGCCCCCTG
GTGGCGCTGCTGGACGGCCGCGACTGCACTGTGGAGATGCCCATCCTGAAGGACCTGGCCACTGTGGCCTTCTGTGACGCGCAGTCGACGCAGGAAATCCACGAG
AAGGTTCTAAACGAAGCCGTGGGCGCCATGATGTACCACACCATCACCCTCACCAGGGAGGACCTGGAGAAGTTCAAGGCCCTGAGAGTGATCGTGCGGATAGGC
AGTGGCTATGACAACGTGGACATCAAGGCTGCCGGCGAGCTCGGAATTGCCGTGTGCAACATCCCGTCTGCAGCCGTGGAAGAGACAGCGGACTCTACCATCTGC
CACATCCTCAACCTGTACCGGAGGAACACGTGGCTGTACCAGGCACTGCGGGAAGGCACGCGGGTTCAGAGCGTGGAGCAGATCCGCGAGGTGGCCTCGGGAGCG
GCCCGCATCCGTGGGGAGACGCTGGGCCTCATTGGCTTTGGTCGCACGGGGCAGGCGGTTGCAGTTCGAGCCAAGGCCTTTGGATTCAGCGTCATATTTTATGAC
CCCTACTTGCAGGATGGGATCGAGCGGTCCCTGGGCGTGCAGAGGGTCTACACCCTGCAGGATTTGCTGTATCAGAGCGACTGCGTCTCCTTGCACTGCAATCTC
AACGAACATAACCACCACCTCATCAATGACTTTACCATAAAGCAGATGAGGCAGGGAGCATTCCTTGTGAACGCAGCCCGTGGCGGCCTGGTGGACGAGAAAGCC
TTAGCACAAGCCCTCAAGGAGGGCAGGATACGAGGGGCAGCCCTCGACGTGCATGAGTCAGAGCCCTTCAGCTTTGCTCAGGGTCCGTTGAAAGATGCCCCGAAT
CTCATCTGCACTCCTCACACTGCCTGGTACAGTGAGCAGGCGTCACTGGAGATGAGGGAGGCAGCTGCCACCGAGATCCGCCGAGCCATCACAGGTCGCATCCCA
GAAAGCTTAAGAAATTGTGTGAACAAGGAATTCTTTGTCACATCAGCGCCTTGGTCAGTAATAGACCAGCAAGCAATTCATCCTGAGCTCAATGGTGCCACATAC
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ATGGCCCTTGTGGATAAGCACAAAGTCAAGAGACAGCGATTGGACAGAATTTGTGAAGGTATCCGCCCCCAGATCATGAACGGCCCCCTGCACCCCCGCCCCCTG
GTGGCGCTGCTGGACGGCCGCGACTGCACTGTGGAGATGCCCATCCTGAAGGACCTGGCCACTGTGGCCTTCTGTGACGCGCAGTCGACGCAGGAAATCCACGAG
AAGGTTCTAAACGAAGCCGTGGGCGCCATGATGTACCACACCATCACCCTCACCAGGGAGGACCTGGAGAAGTTCAAGGCCCTGAGAGTGATCGTGCGGATAGGC
AGTGGCTATGACAACGTGGACATCAAGGCTGCCGGCGAGCTCGGAATTGCCGTGTGCAACATCCCGTCTGCAGCCGTGGAAGAGACAGCGGACTCTACCATCTGC
CACATCCTCAACCTGTACCGGAGGAACACGTGGCTGTACCAGGCACTGCGGGAAGGCACGCGGGTTCAGAGCGTGGAGCAGATCCGCGAGGTGGCCTCGGGAGCG
GCCCGCATCCGTGGGGAGACGCTGGGCCTCATTGGCTTTGGTCGCACGGGGCAGGCGGTTGCAGTTCGAGCCAAGGCCTTTGGATTCAGCGTCATATTTTATGAC
CCCTACTTGCAGGATGGGATCGAGCGGTCCCTGGGCGTGCAGAGGGTCTACACCCTGCAGGATTTGCTGTATCAGAGCGACTGCGTCTCCTTGCACTGCAATCTC
AACGAACATAACCACCACCTCATCAATGACTTTACCATAAAGCAGATGAGGCAGGGAGCATTCCTTGTGAACGCAGCCCGTGGCGGCCTGGTGGACGAGAAAGCC
TTAGCACAAGCCCTCAAGGAGGGCAGGATACGAGGGGCAGCCCTCGACGTGCATGAGTCAGAGCCCTTCAGCTTTGCTCAGGGTCCGTTGAAAGATGCCCCGAAT
CTCATCTGCACTCCTCACACTGCCTGGTACAGTGAGCAGGCGTCACTGGAGATGAGGGAGGCAGCTGCCACCGAGATCCGCCGAGCCATCACAGGTCGCATCCCA
GAAAGCTTAAGAAATTGTGTGAACAAGGAATTCTTTGTCACATCAGCGCCTTGGTCAGTAATAGACCAGCAAGCAATTCATCCTGAGCTCAATGGTGCCACATAC
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>CTBP2|1488|protein
MALVDKHKVKRQRLDRICEGIRPQIMNGPLHPRPLVALLDGRDCTVEMPILKDLATVAFCDAQSTQEIHEKVLNEAVGAMMYHTITLTREDLEKFKALRVIVRIG
SGYDNVDIKAAGELGIAVCNIPSAAVEETADSTICHILNLYRRNTWLYQALREGTRVQSVEQIREVASGAARIRGETLGLIGFGRTGQAVAVRAKAFGFSVIFYD
PYLQDGIERSLGVQRVYTLQDLLYQSDCVSLHCNLNEHNHHLINDFTIKQMRQGAFLVNAARGGLVDEKALAQALKEGRIRGAALDVHESEPFSFAQGPLKDAPN
LICTPHTAWYSEQASLEMREAAATEIRRAITGRIPESLRNCVNKEFFVTSAPWSVIDQQAIHPELNGATYRYPPGIVGVAPGGLPAAMEGIIPGGIPVTHNLPTV
AHPSQAPSPNQPTKHGDNREHPNEQ
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MALVDKHKVKRQRLDRICEGIRPQIMNGPLHPRPLVALLDGRDCTVEMPILKDLATVAFCDAQSTQEIHEKVLNEAVGAMMYHTITLTREDLEKFKALRVIVRIG
SGYDNVDIKAAGELGIAVCNIPSAAVEETADSTICHILNLYRRNTWLYQALREGTRVQSVEQIREVASGAARIRGETLGLIGFGRTGQAVAVRAKAFGFSVIFYD
PYLQDGIERSLGVQRVYTLQDLLYQSDCVSLHCNLNEHNHHLINDFTIKQMRQGAFLVNAARGGLVDEKALAQALKEGRIRGAALDVHESEPFSFAQGPLKDAPN
LICTPHTAWYSEQASLEMREAAATEIRRAITGRIPESLRNCVNKEFFVTSAPWSVIDQQAIHPELNGATYRYPPGIVGVAPGGLPAAMEGIIPGGIPVTHNLPTV
AHPSQAPSPNQPTKHGDNREHPNEQ
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (2) |
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 |
---|---|---|---|---|
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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