Evidence Details for CCDC125
Basic Information Top
Gene Symbol: | CCDC125 ( KENAE ) |
---|---|
Gene Full Name: | coiled-coil domain containing 125 |
Band: | 5q13.2 |
Quick Links | Entrez ID:202243; OMIM: NA; Uniprot ID:CC125_HUMAN; ENSEMBL ID: ENSG00000183323; HGNC ID: 28924 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CCDC125|202243|nucleotide
ATGAGCAAGGTGGCAAGATCATCAAGTGAGTCAGACGTGCAGCTCTGGGAAACAGAAGAGGATGACATGACAGAAGGTGATTTAGGGTATGGCCTCGGAAGGAAA
CCTGGTGGGATTTATGAAATAGAATTTTCACATAGGTCTAGAAAAAGATCAGATGGAAAGAACTTTAGCCCTCCTCCATTTCCGAGAAAGGGAGAAGAAAGAAAT
GAAGCGAGTTTTCAGTATTCCAAGCATAAGAGCCAGCAAGATACATTCCCTCAAGTGTCCAGAATTTCCAATTACAGACGACAAAGTAGCACTGTAGATTCGAAT
TCAGAATTGTCAAATGAAGAATTAAGGCAATGTCTTAATGAAACTTTAGAGGAGGTAGAAATGTTAAAAACTGAACTTGAGGCATCTCAAAGACAACTCAGAGGT
AAAGAGGAAGCATTGAAAATTCTTCAAAGCATGGCAATACTGGGCAAAGCCACAAGTCATACGCAGGCAGTGCTTCAAAAAACTATGGAACAAAACAGATCCTTG
GAGAAGGAAATAAATGCCTTGCAGTGGGAAATAGAATTTGATCATAATAGATTTAAAAATATAGAGGAATCTTGGATCCAAAAATATGACAGGCTAAACTGTGAA
AATGCAGTCCTCAAAGAGAATTTGAAAGTGAAAACAGAAGAAATTAAAATGCTGAAGTCTGACAATGCAGTTTTGAATCAACGGTATTTGGAGGCCCTCGCCATG
CTTGATATCAAACAGCAGAAGATGGCTCAGGAAAACATGTGCTGTGATAAAAGTGGCTTTGCAGAGGCTTCAGGTCTTGAGCTTGCGGTCCTCGGAGCCTGCCTT
TGTCATGGGCCCGGAGGGAACCCCTGTTCTTGTGCCAGAATGGCAGCATCCACTCGGAAACTGCTTCTTCAGCTCAAACAAGAGTTGGAAATTTTGCAGAAGAGT
AAAGAAGAAGCTTACGTGATGGCAGATGCTTTCAGAATTGCATTTGAGCAACAATTAATGAGAAAAAATGACCAGGCACTACAATTGACACAAATGGATAAAATG
CATAAAAAAGCAACAAAATGGATGAATTGGAAGCACCTTAAAGAGGATGGATTTCCATCACCAAGGAGTAAGAAGACCTTCGGGCAGAGACTGTTGGGTATGCTC
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ATGAGCAAGGTGGCAAGATCATCAAGTGAGTCAGACGTGCAGCTCTGGGAAACAGAAGAGGATGACATGACAGAAGGTGATTTAGGGTATGGCCTCGGAAGGAAA
CCTGGTGGGATTTATGAAATAGAATTTTCACATAGGTCTAGAAAAAGATCAGATGGAAAGAACTTTAGCCCTCCTCCATTTCCGAGAAAGGGAGAAGAAAGAAAT
GAAGCGAGTTTTCAGTATTCCAAGCATAAGAGCCAGCAAGATACATTCCCTCAAGTGTCCAGAATTTCCAATTACAGACGACAAAGTAGCACTGTAGATTCGAAT
TCAGAATTGTCAAATGAAGAATTAAGGCAATGTCTTAATGAAACTTTAGAGGAGGTAGAAATGTTAAAAACTGAACTTGAGGCATCTCAAAGACAACTCAGAGGT
AAAGAGGAAGCATTGAAAATTCTTCAAAGCATGGCAATACTGGGCAAAGCCACAAGTCATACGCAGGCAGTGCTTCAAAAAACTATGGAACAAAACAGATCCTTG
GAGAAGGAAATAAATGCCTTGCAGTGGGAAATAGAATTTGATCATAATAGATTTAAAAATATAGAGGAATCTTGGATCCAAAAATATGACAGGCTAAACTGTGAA
AATGCAGTCCTCAAAGAGAATTTGAAAGTGAAAACAGAAGAAATTAAAATGCTGAAGTCTGACAATGCAGTTTTGAATCAACGGTATTTGGAGGCCCTCGCCATG
CTTGATATCAAACAGCAGAAGATGGCTCAGGAAAACATGTGCTGTGATAAAAGTGGCTTTGCAGAGGCTTCAGGTCTTGAGCTTGCGGTCCTCGGAGCCTGCCTT
TGTCATGGGCCCGGAGGGAACCCCTGTTCTTGTGCCAGAATGGCAGCATCCACTCGGAAACTGCTTCTTCAGCTCAAACAAGAGTTGGAAATTTTGCAGAAGAGT
AAAGAAGAAGCTTACGTGATGGCAGATGCTTTCAGAATTGCATTTGAGCAACAATTAATGAGAAAAAATGACCAGGCACTACAATTGACACAAATGGATAAAATG
CATAAAAAAGCAACAAAATGGATGAATTGGAAGCACCTTAAAGAGGATGGATTTCCATCACCAAGGAGTAAGAAGACCTTCGGGCAGAGACTGTTGGGTATGCTC
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>CCDC125|202243|protein
MSKVARSSSESDVQLWETEEDDMTEGDLGYGLGRKPGGIYEIEFSHRSRKRSDGKNFSPPPFPRKGEERNEASFQYSKHKSQQDTFPQVSRISNYRRQSSTVDSN
SELSNEELRQCLNETLEEVEMLKTELEASQRQLRGKEEALKILQSMAILGKATSHTQAVLQKTMEQNRSLEKEINALQWEIEFDHNRFKNIEESWIQKYDRLNCE
NAVLKENLKVKTEEIKMLKSDNAVLNQRYLEALAMLDIKQQKMAQENMCCDKSGFAEASGLELAVLGACLCHGPGGNPCSCARMAASTRKLLLQLKQELEILQKS
KEEAYVMADAFRIAFEQQLMRKNDQALQLTQMDKMHKKATKWMNWKHLKEDGFPSPRSKKTFGQRLLGMLPSENSSKRMEDQDSPQEVLKMLIDLLNDKEEALAH
QRKVSYMLARALEDKDTASNENKEKNPIKENFPFNNPWRKTSEFSVLGDPIHSSVCILNSVGCICSIQHSQIDPNYRTLKRSHSLPSSIIF
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MSKVARSSSESDVQLWETEEDDMTEGDLGYGLGRKPGGIYEIEFSHRSRKRSDGKNFSPPPFPRKGEERNEASFQYSKHKSQQDTFPQVSRISNYRRQSSTVDSN
SELSNEELRQCLNETLEEVEMLKTELEASQRQLRGKEEALKILQSMAILGKATSHTQAVLQKTMEQNRSLEKEINALQWEIEFDHNRFKNIEESWIQKYDRLNCE
NAVLKENLKVKTEEIKMLKSDNAVLNQRYLEALAMLDIKQQKMAQENMCCDKSGFAEASGLELAVLGACLCHGPGGNPCSCARMAASTRKLLLQLKQELEILQKS
KEEAYVMADAFRIAFEQQLMRKNDQALQLTQMDKMHKKATKWMNWKHLKEDGFPSPRSKKTFGQRLLGMLPSENSSKRMEDQDSPQEVLKMLIDLLNDKEEALAH
QRKVSYMLARALEDKDTASNENKEKNPIKENFPFNNPWRKTSEFSVLGDPIHSSVCILNSVGCICSIQHSQIDPNYRTLKRSHSLPSSIIF
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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 (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 |
---|---|---|---|---|
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
Low Scale Gene Studies Top
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