Evidence Details for COMMD2
Basic Information Top
| Gene Symbol: | COMMD2 ( MGC57611 ) |
|---|---|
| Gene Full Name: | COMM domain containing 2 |
| Band: | 3q25.1 |
| Quick Links | Entrez ID:51122; OMIM: NA; Uniprot ID:COMD2_HUMAN; ENSEMBL ID: ENSG00000114744; HGNC ID: 24993 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>COMMD2|51122|nucleotide
ATGCTGCTGGAATTGTCCGAGGAGCATAAGGAACACCTGGCCTTCCTGCCTCAAGTGGACAGCGCGGTGGTCGCCGAGTTTGGGCGGATTGCTGTGGAATTCCTG
AGACGCGGCGCAAACCCAAAAATCTACGAAGGCGCCGCCAGAAAACTCAATGTGAGTAGTGACACTGTCCAGCATGGTGTGGAAGGATTAACGTATCTCCTCACT
GAGAGCTCAAAGCTCATGATTTCTGAACTGGATTTCCAAGACTCTGTTTTTGTTCTGGGATTCTCTGAAGAATTAAACAAATTGTTGCTTCAGCTTTATCTGGAC
AACAGAAAAGAGATCAGAACGATTCTGAGTGAATTGGCACCAAGCCTTCCCAGTTATCATAACCTTGAATGGCGACTAGATGTACAGCTTGCAAGTAGAAGTCTC
AGGCAACAGATTAAACCAGCAGTGACTATAAAGCTACACCTTAATCAAAATGGAGATCACAACACCAAAGTTCTGCAGACAGACCCAGCCACCCTGCTCCATTTG
GTTCAACAACTGGAACAAGCATTGGAAGAGATGAAGACAAATCACTGTAGGAGAGTTGTTCGCAACATCAAGTAG
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ATGCTGCTGGAATTGTCCGAGGAGCATAAGGAACACCTGGCCTTCCTGCCTCAAGTGGACAGCGCGGTGGTCGCCGAGTTTGGGCGGATTGCTGTGGAATTCCTG
AGACGCGGCGCAAACCCAAAAATCTACGAAGGCGCCGCCAGAAAACTCAATGTGAGTAGTGACACTGTCCAGCATGGTGTGGAAGGATTAACGTATCTCCTCACT
GAGAGCTCAAAGCTCATGATTTCTGAACTGGATTTCCAAGACTCTGTTTTTGTTCTGGGATTCTCTGAAGAATTAAACAAATTGTTGCTTCAGCTTTATCTGGAC
AACAGAAAAGAGATCAGAACGATTCTGAGTGAATTGGCACCAAGCCTTCCCAGTTATCATAACCTTGAATGGCGACTAGATGTACAGCTTGCAAGTAGAAGTCTC
AGGCAACAGATTAAACCAGCAGTGACTATAAAGCTACACCTTAATCAAAATGGAGATCACAACACCAAAGTTCTGCAGACAGACCCAGCCACCCTGCTCCATTTG
GTTCAACAACTGGAACAAGCATTGGAAGAGATGAAGACAAATCACTGTAGGAGAGTTGTTCGCAACATCAAGTAG
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>COMMD2|51122|protein
MLLELSEEHKEHLAFLPQVDSAVVAEFGRIAVEFLRRGANPKIYEGAARKLNVSSDTVQHGVEGLTYLLTESSKLMISELDFQDSVFVLGFSEELNKLLLQLYLD
NRKEIRTILSELAPSLPSYHNLEWRLDVQLASRSLRQQIKPAVTIKLHLNQNGDHNTKVLQTDPATLLHLVQQLEQALEEMKTNHCRRVVRNIK
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MLLELSEEHKEHLAFLPQVDSAVVAEFGRIAVEFLRRGANPKIYEGAARKLNVSSDTVQHGVEGLTYLLTESSKLMISELDFQDSVFVLGFSEELNKLLLQLYLD
NRKEIRTILSELAPSLPSYHNLEWRLDVQLASRSLRQQIKPAVTIKLHLNQNGDHNTKVLQTDPATLLHLVQQLEQALEEMKTNHCRRVVRNIK
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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 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow 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%) |
1.21128 | Up | - | |
| ||||||||||||
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.