Evidence Details for CCM2
Basic Information Top
| Gene Symbol: | CCM2 ( C7orf22,MGC4067,MGC4607,MGC74868,OSM ) |
|---|---|
| Gene Full Name: | cerebral cavernous malformation 2 |
| Band: | 7p13 |
| Quick Links | Entrez ID:83605; OMIM: 607929; Uniprot ID:CCM2_HUMAN; ENSEMBL ID: ENSG00000136280; HGNC ID: 21708 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CCM2|83605|nucleotide
ATGCATAGTAGCTGTCGGCAGAGGAGGAACCAGAATCTCTCCAAAGAAATTCCTCAAACAGAATTTCACACAGGGTATTCCATGGAGAATGAGCCTGGAATTGTC
TCGCCATTTAAACGAGTATTCCTAAAAGGTGAAAAGAGTAGAGATAAGAAAGCCCATGAGAAGGTGACAGAGAGGCGCCCTCTGCACACTGTGGTGTTGTCATTG
CCTGAGCGCGTCGAGCCAGACAGACTGCTGAGCGACTATATTGAGAAGGAGGTAAAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGT
AGGACTGAAATCCTGCATTTCATAGACAATGCAAAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCGTACAAC
GTCAAGCTGGCCTGGAGGGACGGGGAGGATATCATCCTCAGGGTGCCCATCCATGACATCGCCGCCGTCTCCTATGTTCGGGATGACGCTGCACACCTGGTGGTC
CTGAAGACAGCCCAGGACCCAGGGATCTCCCCCAGCCAGAGTCTGTGTGCGGAAAGTTCCAGAGGCCTCAGTGCAGGCTCCCTGTCGGAGAGTGCAGTTGGGCCC
GTGGAGGCATGCTGCCTGGTCATCCTGGCTGCAGAGAGCAAGGTCGCTGCGGAGGAGCTTTGCTGTCTGCTAGGCCAGGTCTTCCAGGTTGTTTACACGGAGTCC
ACCATCGACTTTCTGGACAGAGCGATATTTGATGGGGCCTCTACCCCGACCCACCACCTGTCCCTGCACAGCGATGACTCTTCTACAAAAGTGGACATTAAGGAG
ACCTACGAGGTGGAAGCCAGCACTTTCTGCTTCCCTGAATCTGTGGATGTGGGTGGTGCATCACCCCACAGCAAGACCATCAGTGAGAGCGAGCTGAGCGCCAGC
GCCACTGAGCTGCTGCAGGACTACATGCTGACGCTGCGCACCAAGCTGTCATCACAGGAGATCCAGCAGTTTGCAGCACTGCTGCACGAGTACCGCAATGGGGCC
TCTATCCACGAGTTCTGCATCAACCTGCGGCAGCTCTACGGGGACAGCCGCAAGTTCCTGCTGCTTGGTCTGAGGCCCTTCATCCCTGAGAAGGACAGCCAGCAC
Show »
ATGCATAGTAGCTGTCGGCAGAGGAGGAACCAGAATCTCTCCAAAGAAATTCCTCAAACAGAATTTCACACAGGGTATTCCATGGAGAATGAGCCTGGAATTGTC
TCGCCATTTAAACGAGTATTCCTAAAAGGTGAAAAGAGTAGAGATAAGAAAGCCCATGAGAAGGTGACAGAGAGGCGCCCTCTGCACACTGTGGTGTTGTCATTG
CCTGAGCGCGTCGAGCCAGACAGACTGCTGAGCGACTATATTGAGAAGGAGGTAAAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGT
AGGACTGAAATCCTGCATTTCATAGACAATGCAAAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCGTACAAC
GTCAAGCTGGCCTGGAGGGACGGGGAGGATATCATCCTCAGGGTGCCCATCCATGACATCGCCGCCGTCTCCTATGTTCGGGATGACGCTGCACACCTGGTGGTC
CTGAAGACAGCCCAGGACCCAGGGATCTCCCCCAGCCAGAGTCTGTGTGCGGAAAGTTCCAGAGGCCTCAGTGCAGGCTCCCTGTCGGAGAGTGCAGTTGGGCCC
GTGGAGGCATGCTGCCTGGTCATCCTGGCTGCAGAGAGCAAGGTCGCTGCGGAGGAGCTTTGCTGTCTGCTAGGCCAGGTCTTCCAGGTTGTTTACACGGAGTCC
ACCATCGACTTTCTGGACAGAGCGATATTTGATGGGGCCTCTACCCCGACCCACCACCTGTCCCTGCACAGCGATGACTCTTCTACAAAAGTGGACATTAAGGAG
ACCTACGAGGTGGAAGCCAGCACTTTCTGCTTCCCTGAATCTGTGGATGTGGGTGGTGCATCACCCCACAGCAAGACCATCAGTGAGAGCGAGCTGAGCGCCAGC
GCCACTGAGCTGCTGCAGGACTACATGCTGACGCTGCGCACCAAGCTGTCATCACAGGAGATCCAGCAGTTTGCAGCACTGCTGCACGAGTACCGCAATGGGGCC
TCTATCCACGAGTTCTGCATCAACCTGCGGCAGCTCTACGGGGACAGCCGCAAGTTCCTGCTGCTTGGTCTGAGGCCCTTCATCCCTGAGAAGGACAGCCAGCAC
Show »
>CCM2|83605|protein
MHSSCRQRRNQNLSKEIPQTEFHTGYSMENEPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLSDYIEKEVKYLGQLTSIPGYLNPSS
RTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAGSLSESAVGP
VEACCLVILAAESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTPTHHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSAS
ATELLQDYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSST
TNGNRATGSSDDRSAPSEGDEWDRMISDISSDIEALGCSMDQDSA
Show »
MHSSCRQRRNQNLSKEIPQTEFHTGYSMENEPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLSDYIEKEVKYLGQLTSIPGYLNPSS
RTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAGSLSESAVGP
VEACCLVILAAESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTPTHHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSAS
ATELLQDYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSST
TNGNRATGSSDDRSAPSEGDEWDRMISDISSDIEALGCSMDQDSA
Show »
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) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (3) |
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 | ||||||
| Wolpert, 2001 | - | FISH |  |  | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top