Evidence Details for C12orf40
Basic Information Top
Gene Symbol: | C12orf40 ( FLJ40126 ) |
---|---|
Gene Full Name: | chromosome 12 open reading frame 40 |
Band: | 12q12 |
Quick Links | Entrez ID:283461; OMIM: NA; Uniprot ID:CL040_HUMAN; ENSEMBL ID: ENSG00000180116; HGNC ID: 26846 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C12orf40|283461|nucleotide
ATGAATTGGGTCGGGGGGTCCCGGTCCAGGGTTCTGATCAAGCAGGAAAGAAGAAAGCAAAAGGAATATTTTGAAAAACACAGGTTAAAATCAAAAATGAAATCA
CTGGGAGTTTTATCTCCTGTCAAAAATTCTGCTGTCAGCTTAGACATTCTTAACCTATATATGGTAAATCAGATATCTTGCAAGAAGAAAATTCCTGAAACTGTG
AGAAAACCAACCCATGTGAACATGAATAGAGACATAAAAATGCCCCTAAGAAAGCATAATTTAGAACTTACAATGTCGCCTCACTGTGTACCTTCTAAACTCTGC
CTTGATGATACAGAAACCAATGTAAACTGTCAAAGACTAAGTAGCAAGGAAGATCTTGGCCCAGTCCAGTCACAAGGCATGGACTCATATAGTATGCTTCACCCT
CAGTTCAGCAAAATAGAGAACTGCAGTTTCACTCCATCATCTTTTTCAGTGGAGTTACCTTCTAACAGACATATTTCAAAACTAAATTTCACATCTGGAATAGCA
CCTACTCCTCAGAAACTTGCATATGAAAAAAAGCAGAATGACCAGCGCAGTACTGTTAACTGTTCTGATTCCTTGCTTTCCAAATTAAATAAAAGTCAAGATGTT
TTCAGTCCATCACATAAAACTACACGATTTGGGACATTATTTGAAAGATTAAACAGTCTAGGAAATAGGAATTTACTTACTAAAAGCCCTGCTGTAATTATGGAT
GAAGATTGTAGAAGCACGGATGAAATAAGACAGTCAGACTACATTACTGAAAAACACTCAATACAGCATATTTGGGGGAAAAATGGAAAGGAAGTTTCAAATTTT
CTTGAAGATGTGAACCAGTCTACTCCTAACCTTCTATCAGAGAATTGTGACTCTTTTGTTAGTCAAAATATGATCAATGTATTAAACATAGATGAGCAAAGGATA
AAGAAAACATTTAACAAGTGTGATTATGATAGTATGGGAGATACTTGTGTAGTCACTAGTTCTGATAAAAACCATGTCACTGACAGATGCATTAGAAACATTTTT
ACAGTTCCAGAGTTGACTTTTAGTAATTCGACTTTGAATAAAACAAGTTATCCAGAAAAATGTCAGCCAAACAAGAAGTATCAGAGAGAGTATAACAAAAATGAA
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ATGAATTGGGTCGGGGGGTCCCGGTCCAGGGTTCTGATCAAGCAGGAAAGAAGAAAGCAAAAGGAATATTTTGAAAAACACAGGTTAAAATCAAAAATGAAATCA
CTGGGAGTTTTATCTCCTGTCAAAAATTCTGCTGTCAGCTTAGACATTCTTAACCTATATATGGTAAATCAGATATCTTGCAAGAAGAAAATTCCTGAAACTGTG
AGAAAACCAACCCATGTGAACATGAATAGAGACATAAAAATGCCCCTAAGAAAGCATAATTTAGAACTTACAATGTCGCCTCACTGTGTACCTTCTAAACTCTGC
CTTGATGATACAGAAACCAATGTAAACTGTCAAAGACTAAGTAGCAAGGAAGATCTTGGCCCAGTCCAGTCACAAGGCATGGACTCATATAGTATGCTTCACCCT
CAGTTCAGCAAAATAGAGAACTGCAGTTTCACTCCATCATCTTTTTCAGTGGAGTTACCTTCTAACAGACATATTTCAAAACTAAATTTCACATCTGGAATAGCA
CCTACTCCTCAGAAACTTGCATATGAAAAAAAGCAGAATGACCAGCGCAGTACTGTTAACTGTTCTGATTCCTTGCTTTCCAAATTAAATAAAAGTCAAGATGTT
TTCAGTCCATCACATAAAACTACACGATTTGGGACATTATTTGAAAGATTAAACAGTCTAGGAAATAGGAATTTACTTACTAAAAGCCCTGCTGTAATTATGGAT
GAAGATTGTAGAAGCACGGATGAAATAAGACAGTCAGACTACATTACTGAAAAACACTCAATACAGCATATTTGGGGGAAAAATGGAAAGGAAGTTTCAAATTTT
CTTGAAGATGTGAACCAGTCTACTCCTAACCTTCTATCAGAGAATTGTGACTCTTTTGTTAGTCAAAATATGATCAATGTATTAAACATAGATGAGCAAAGGATA
AAGAAAACATTTAACAAGTGTGATTATGATAGTATGGGAGATACTTGTGTAGTCACTAGTTCTGATAAAAACCATGTCACTGACAGATGCATTAGAAACATTTTT
ACAGTTCCAGAGTTGACTTTTAGTAATTCGACTTTGAATAAAACAAGTTATCCAGAAAAATGTCAGCCAAACAAGAAGTATCAGAGAGAGTATAACAAAAATGAA
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>C12orf40|283461|protein
MNWVGGSRSRVLIKQERRKQKEYFEKHRLKSKMKSLGVLSPVKNSAVSLDILNLYMVNQISCKKKIPETVRKPTHVNMNRDIKMPLRKHNLELTMSPHCVPSKLC
LDDTETNVNCQRLSSKEDLGPVQSQGMDSYSMLHPQFSKIENCSFTPSSFSVELPSNRHISKLNFTSGIAPTPQKLAYEKKQNDQRSTVNCSDSLLSKLNKSQDV
FSPSHKTTRFGTLFERLNSLGNRNLLTKSPAVIMDEDCRSTDEIRQSDYITEKHSIQHIWGKNGKEVSNFLEDVNQSTPNLLSENCDSFVSQNMINVLNIDEQRI
KKTFNKCDYDSMGDTCVVTSSDKNHVTDRCIRNIFTVPELTFSNSTLNKTSYPEKCQPNKKYQREYNKNERNDLSTSFENDYYPSSSERKEKFENDYQEKTPQKS
IQKYPANSMGNIPSEELHSKQSWDFGLDEILMEEGGIYSLKSKRISTKKISLDSAQSSRSTSYSPRPTDSCFSSSSDLPSEDEDQISQQIEDSNRMTIKTKEKMN
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MNWVGGSRSRVLIKQERRKQKEYFEKHRLKSKMKSLGVLSPVKNSAVSLDILNLYMVNQISCKKKIPETVRKPTHVNMNRDIKMPLRKHNLELTMSPHCVPSKLC
LDDTETNVNCQRLSSKEDLGPVQSQGMDSYSMLHPQFSKIENCSFTPSSFSVELPSNRHISKLNFTSGIAPTPQKLAYEKKQNDQRSTVNCSDSLLSKLNKSQDV
FSPSHKTTRFGTLFERLNSLGNRNLLTKSPAVIMDEDCRSTDEIRQSDYITEKHSIQHIWGKNGKEVSNFLEDVNQSTPNLLSENCDSFVSQNMINVLNIDEQRI
KKTFNKCDYDSMGDTCVVTSSDKNHVTDRCIRNIFTVPELTFSNSTLNKTSYPEKCQPNKKYQREYNKNERNDLSTSFENDYYPSSSERKEKFENDYQEKTPQKS
IQKYPANSMGNIPSEELHSKQSWDFGLDEILMEEGGIYSLKSKRISTKKISLDSAQSSRSTSYSPRPTDSCFSSSSDLPSEDEDQISQQIEDSNRMTIKTKEKMN
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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 |
---|---|---|---|---|
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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