Evidence Details for C11orf54
Basic Information Top
Gene Symbol: | C11orf54 ( PTD012 ) |
---|---|
Gene Full Name: | chromosome 11 open reading frame 54 |
Band: | 11q21 |
Quick Links | Entrez ID:28970; OMIM: NA; Uniprot ID:CK054_HUMAN; ENSEMBL ID: ENSG00000182919; HGNC ID: 30204 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C11orf54|28970|nucleotide
ATGGCTTGTGCTGAGTTTTCTTTTCATGTACCAAGTCTTGAAGAGCTTGCTGGAGTTATGCAGAAGGGGTTAAAAGATAACTTTGCTGATGTCCAGGTCTCTGTA
GTTGATTGCCCTGATTTGACTAAGGAACCCTTTACCTTTCCTGTAAAAGGCATCTGTGGGAAAACTAGAATTGCAGAAGTTGGAGGTGTGCCTTACTTATTGCCT
CTTGTAAACCAAAAAAAAGTTTATGATCTGAATAAAATTGCAAAAGAAATCAAGCTGCCTGGAGCCTTTATTCTTGGAGCAGGAGCAGGTCCATTTCAGACTCTC
GGGTTCAATTCTGAGTTTATGCCAGTTATTCAGACAGAAAGTGAACACAAGCCTCCTGTAAATGGAAGTTACTTTGCCCATGTGAACCCTGCAGATGGAGGGTGC
CTACTGGAGAAATACAGTGAGAAATGTCATGATTTTCAGTGTGCATTACTGGCTAATCTTTTTGCCAGTGAAGGCCAACCTGGCAAGCCTGCAGAATTTTCTTCC
TGCCCCTTGAACTCTGATGAAGAAGTGAATAAATGGTTGCATTTTTATGAAATGAAAGCTCCTTTGGTTTGTCTACCAGTTTTTGTCTCCAGAGACCCAGGGTTT
GATTTGCGACTGGAGCACACTCATTTTTTTAGTCGTCATGGAGAAGGTGGACACTACCATTATGACACTACTCCAGATATAGTGGAATATCTTGGATACTTCTTA
CCTGCAGAGTTTCTCTATCGCATTGATCAACCAAAAGAGACGCATTCAATTGGGCGAGATTAA
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ATGGCTTGTGCTGAGTTTTCTTTTCATGTACCAAGTCTTGAAGAGCTTGCTGGAGTTATGCAGAAGGGGTTAAAAGATAACTTTGCTGATGTCCAGGTCTCTGTA
GTTGATTGCCCTGATTTGACTAAGGAACCCTTTACCTTTCCTGTAAAAGGCATCTGTGGGAAAACTAGAATTGCAGAAGTTGGAGGTGTGCCTTACTTATTGCCT
CTTGTAAACCAAAAAAAAGTTTATGATCTGAATAAAATTGCAAAAGAAATCAAGCTGCCTGGAGCCTTTATTCTTGGAGCAGGAGCAGGTCCATTTCAGACTCTC
GGGTTCAATTCTGAGTTTATGCCAGTTATTCAGACAGAAAGTGAACACAAGCCTCCTGTAAATGGAAGTTACTTTGCCCATGTGAACCCTGCAGATGGAGGGTGC
CTACTGGAGAAATACAGTGAGAAATGTCATGATTTTCAGTGTGCATTACTGGCTAATCTTTTTGCCAGTGAAGGCCAACCTGGCAAGCCTGCAGAATTTTCTTCC
TGCCCCTTGAACTCTGATGAAGAAGTGAATAAATGGTTGCATTTTTATGAAATGAAAGCTCCTTTGGTTTGTCTACCAGTTTTTGTCTCCAGAGACCCAGGGTTT
GATTTGCGACTGGAGCACACTCATTTTTTTAGTCGTCATGGAGAAGGTGGACACTACCATTATGACACTACTCCAGATATAGTGGAATATCTTGGATACTTCTTA
CCTGCAGAGTTTCTCTATCGCATTGATCAACCAAAAGAGACGCATTCAATTGGGCGAGATTAA
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>C11orf54|28970|protein
MACAEFSFHVPSLEELAGVMQKGLKDNFADVQVSVVDCPDLTKEPFTFPVKGICGKTRIAEVGGVPYLLPLVNQKKVYDLNKIAKEIKLPGAFILGAGAGPFQTL
GFNSEFMPVIQTESEHKPPVNGSYFAHVNPADGGCLLEKYSEKCHDFQCALLANLFASEGQPGKPAEFSSCPLNSDEEVNKWLHFYEMKAPLVCLPVFVSRDPGF
DLRLEHTHFFSRHGEGGHYHYDTTPDIVEYLGYFLPAEFLYRIDQPKETHSIGRD
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MACAEFSFHVPSLEELAGVMQKGLKDNFADVQVSVVDCPDLTKEPFTFPVKGICGKTRIAEVGGVPYLLPLVNQKKVYDLNKIAKEIKLPGAFILGAGAGPFQTL
GFNSEFMPVIQTESEHKPPVNGSYFAHVNPADGGCLLEKYSEKCHDFQCALLANLFASEGQPGKPAEFSSCPLNSDEEVNKWLHFYEMKAPLVCLPVFVSRDPGF
DLRLEHTHFFSRHGEGGHYHYDTTPDIVEYLGYFLPAEFLYRIDQPKETHSIGRD
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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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