Evidence Details for CCDC136
Basic Information Top
| Gene Symbol: | CCDC136 ( DKFZp434G156,MGC129657,MGC176632 ) |
|---|---|
| Gene Full Name: | coiled-coil domain containing 136 |
| Band: | 7q32.1 |
| Quick Links | Entrez ID:64753; OMIM: 611902; Uniprot ID:CC136_HUMAN; ENSEMBL ID: ENSG00000128596; HGNC ID: 22225 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CCDC136|64753|nucleotide
ATGGAGGCGGGCGCCGGAGCCGGCGCGGGAGCCGCGGGCTGGAGCTGCCCGGGCCCAGGACCCACAGTGACCACTCTAGGCTCCTATGAGGCTTCCGAGGGCTGT
GAGAGGAAGAAGGGCCAACGCTGGGGGTCCCTGGAACGACGGGGGATGCAAGCTATGGAGGGGGAGGTGTTACTCCCAGCTCTCTATGAGGAGGAAGAGGAAGAG
GAAGAGGAGGAAGAAGAGGTGGAAGAAGAAGAAGAACAAGTGCAGAAAGGTGGCAGTGTTGGCTCTCTGTCAGTCAACAAGCACCGGGGACTGAGCCTCACGGAG
ACAGAGCTGGAGGAGCTGCGGGCTCAGGTGCTGCAGCTGGTGGCAGAACTGGAGGAGACCCGGGAACTGGCAGGGCAGCATGAGGATGACTCCTTGGAGCTACAG
GGGCTCCTGGAGGATGAACGGCTAGCCAGCGCCCAGCAGGCAGAGGTGTTCACCAAGCAGATCCAGCAGCTCCAAGGTGAGCTGCGTTCTCTACGGGAGGAGATT
TCCCTGTTAGAGCATGAGAAAGAAAGCGAACTTAAGGAAATAGAACAGGAATTGCATTTGGCCCAGGCTGAGATCCAGAGTCTGCGGCAAGCAGCAGAGGATTCC
GCAACTGAACATGAGAGTGACATAGCATCCCTGCAGGAGGATCTCTGCCGGATGCAGAATGAACTTGAAGACATGGAACGCATTCGGGGAGATTATGAGATGGAG
ATCGCCTCCCTCCGTGCAGAAATGGAAATGAAGAGCTCTGAACCATCCGAAGAACTGCAGGAGCTGCGGGAACGCTACCATTTCCTGAATGAGGAATACCGGGCC
CTGCAGGAGAGCAACAGCAGCCTCACGGGGCAGCTTGCAGATCTGGAGAGTGAGAGGACACAGAGAGCAACAGAGAGATGGCTGCAGTCCCAAACACTGAGTATG
ACGTCAGCAGAGTCTCAGACTTCAGAAATGGATTTCTTAGAGCCTGATCCTGAAATGCAGTTGTTACGGCAGCAGCTACGGGATGCTGAAGAGCAGATGCATGGC
ATGAAGAACAAGTGTCAGGAATTGTGTTGTGAGTTGGAAGAGCTACAGCATCATCGCCAGGTCAGTGAGGAGGAGCAGAGGCGGCTGCAGAGGGAGCTCAAGTGT
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ATGGAGGCGGGCGCCGGAGCCGGCGCGGGAGCCGCGGGCTGGAGCTGCCCGGGCCCAGGACCCACAGTGACCACTCTAGGCTCCTATGAGGCTTCCGAGGGCTGT
GAGAGGAAGAAGGGCCAACGCTGGGGGTCCCTGGAACGACGGGGGATGCAAGCTATGGAGGGGGAGGTGTTACTCCCAGCTCTCTATGAGGAGGAAGAGGAAGAG
GAAGAGGAGGAAGAAGAGGTGGAAGAAGAAGAAGAACAAGTGCAGAAAGGTGGCAGTGTTGGCTCTCTGTCAGTCAACAAGCACCGGGGACTGAGCCTCACGGAG
ACAGAGCTGGAGGAGCTGCGGGCTCAGGTGCTGCAGCTGGTGGCAGAACTGGAGGAGACCCGGGAACTGGCAGGGCAGCATGAGGATGACTCCTTGGAGCTACAG
GGGCTCCTGGAGGATGAACGGCTAGCCAGCGCCCAGCAGGCAGAGGTGTTCACCAAGCAGATCCAGCAGCTCCAAGGTGAGCTGCGTTCTCTACGGGAGGAGATT
TCCCTGTTAGAGCATGAGAAAGAAAGCGAACTTAAGGAAATAGAACAGGAATTGCATTTGGCCCAGGCTGAGATCCAGAGTCTGCGGCAAGCAGCAGAGGATTCC
GCAACTGAACATGAGAGTGACATAGCATCCCTGCAGGAGGATCTCTGCCGGATGCAGAATGAACTTGAAGACATGGAACGCATTCGGGGAGATTATGAGATGGAG
ATCGCCTCCCTCCGTGCAGAAATGGAAATGAAGAGCTCTGAACCATCCGAAGAACTGCAGGAGCTGCGGGAACGCTACCATTTCCTGAATGAGGAATACCGGGCC
CTGCAGGAGAGCAACAGCAGCCTCACGGGGCAGCTTGCAGATCTGGAGAGTGAGAGGACACAGAGAGCAACAGAGAGATGGCTGCAGTCCCAAACACTGAGTATG
ACGTCAGCAGAGTCTCAGACTTCAGAAATGGATTTCTTAGAGCCTGATCCTGAAATGCAGTTGTTACGGCAGCAGCTACGGGATGCTGAAGAGCAGATGCATGGC
ATGAAGAACAAGTGTCAGGAATTGTGTTGTGAGTTGGAAGAGCTACAGCATCATCGCCAGGTCAGTGAGGAGGAGCAGAGGCGGCTGCAGAGGGAGCTCAAGTGT
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>CCDC136|64753|protein
MEAGAGAGAGAAGWSCPGPGPTVTTLGSYEASEGCERKKGQRWGSLERRGMQAMEGEVLLPALYEEEEEEEEEEEEVEEEEEQVQKGGSVGSLSVNKHRGLSLTE
TELEELRAQVLQLVAELEETRELAGQHEDDSLELQGLLEDERLASAQQAEVFTKQIQQLQGELRSLREEISLLEHEKESELKEIEQELHLAQAEIQSLRQAAEDS
ATEHESDIASLQEDLCRMQNELEDMERIRGDYEMEIASLRAEMEMKSSEPSEELQELRERYHFLNEEYRALQESNSSLTGQLADLESERTQRATERWLQSQTLSM
TSAESQTSEMDFLEPDPEMQLLRQQLRDAEEQMHGMKNKCQELCCELEELQHHRQVSEEEQRRLQRELKCAQNEVLRFQTSHSVTQSSPTPNPPIFSLPLVGLVV
ISALLWCWWAETSS
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MEAGAGAGAGAAGWSCPGPGPTVTTLGSYEASEGCERKKGQRWGSLERRGMQAMEGEVLLPALYEEEEEEEEEEEEVEEEEEQVQKGGSVGSLSVNKHRGLSLTE
TELEELRAQVLQLVAELEETRELAGQHEDDSLELQGLLEDERLASAQQAEVFTKQIQQLQGELRSLREEISLLEHEKESELKEIEQELHLAQAEIQSLRQAAEDS
ATEHESDIASLQEDLCRMQNELEDMERIRGDYEMEIASLRAEMEMKSSEPSEELQELRERYHFLNEEYRALQESNSSLTGQLADLESERTQRATERWLQSQTLSM
TSAESQTSEMDFLEPDPEMQLLRQQLRDAEEQMHGMKNKCQELCCELEELQHHRQVSEEEQRRLQRELKCAQNEVLRFQTSHSVTQSSPTPNPPIFSLPLVGLVV
ISALLWCWWAETSS
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Evidence summary TopClick 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 (2) | 1 (3) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Schellenberg, 2006 | USA | microsatellite-based genomic screen | | | autism | 222 | - | 222 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.847787 | Down | 0.305455 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.