Evidence Details for CCDC148
Basic Information Top
| Gene Symbol: | CCDC148 ( MGC125588,MGC125590 ) |
|---|---|
| Gene Full Name: | coiled-coil domain containing 148 |
| Band: | 2q24.1 |
| Quick Links | Entrez ID:130940; OMIM: NA; Uniprot ID:CC148_HUMAN; ENSEMBL ID: ENSG00000153237; HGNC ID: 25191 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CCDC148|130940|nucleotide
ATGGAATCTGAAATAAAATCCCTTCTCAATGAAGAGAACATTGGAAATGAATGTCTTTGTGACCTTACAAATTTTGAGCAAGAGCTATCAGAACAACAGTGCACA
TATCTTAAAAATGTAATAAATCCTATTCAGCAGCTGAGAGCAGATCTAAAATACAGACAGCATCACACTTTGCAGCATTCACACCCACATATTGAGTTTAACTCC
ATGAAAGTATTGGAAGAGGTTGACTTTGTGAAGAAACAATTGAAAACTGTCTTTGAAAGACTTAGGCTGGAGCAACAGAGAATAGAAAATGATCTTTCAGACTGG
AGTATAAAGATTCTAGATCATTCTTTGGAAGAAAAGACTAACCCGCTTAGTGAACTGCCCATTGAATTAGAAAGTTTGGAATGCCCATACCCTGATTTGAAATCT
TCAATTCTCAGTGAGTTCTATAAGTTTACACAGAAATATCAGAAGAAGCTTCAAGACTTTAATCTGCAGTTGGAAGACATATACAGAAACTGTCAACTAAGTGAA
GAAGACCACTGGATTTACCAGGCTATTTTGGATCAGTACCCTGGAGATCTCTTTGGAAGAAGGACTCTGTATCTGGACATGTTACAAAGATATTTTCCTCACAAA
TCTAGGCATGATTTGGTTGAACACGAGAAATATTGTGACCAATATCGCTTTGCTATAGAGCAGCAAAATATCCTGATATCAAATTGGAATAAAAATAAGAAAGAC
TTTATACAGAAGGCTGTGCTGACACTCACTGAGGCTTGTGCAACACATGAAATGGAGAGCATGTTGGCTAAGGACAAGAAAAAGCAACAGGAATTGTGTGCTGAT
CTGAAAGCCAAGTCTCAGGTATGTCTTTATCAGCAGCATGAAAATGGACTAATACAGTAA
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ATGGAATCTGAAATAAAATCCCTTCTCAATGAAGAGAACATTGGAAATGAATGTCTTTGTGACCTTACAAATTTTGAGCAAGAGCTATCAGAACAACAGTGCACA
TATCTTAAAAATGTAATAAATCCTATTCAGCAGCTGAGAGCAGATCTAAAATACAGACAGCATCACACTTTGCAGCATTCACACCCACATATTGAGTTTAACTCC
ATGAAAGTATTGGAAGAGGTTGACTTTGTGAAGAAACAATTGAAAACTGTCTTTGAAAGACTTAGGCTGGAGCAACAGAGAATAGAAAATGATCTTTCAGACTGG
AGTATAAAGATTCTAGATCATTCTTTGGAAGAAAAGACTAACCCGCTTAGTGAACTGCCCATTGAATTAGAAAGTTTGGAATGCCCATACCCTGATTTGAAATCT
TCAATTCTCAGTGAGTTCTATAAGTTTACACAGAAATATCAGAAGAAGCTTCAAGACTTTAATCTGCAGTTGGAAGACATATACAGAAACTGTCAACTAAGTGAA
GAAGACCACTGGATTTACCAGGCTATTTTGGATCAGTACCCTGGAGATCTCTTTGGAAGAAGGACTCTGTATCTGGACATGTTACAAAGATATTTTCCTCACAAA
TCTAGGCATGATTTGGTTGAACACGAGAAATATTGTGACCAATATCGCTTTGCTATAGAGCAGCAAAATATCCTGATATCAAATTGGAATAAAAATAAGAAAGAC
TTTATACAGAAGGCTGTGCTGACACTCACTGAGGCTTGTGCAACACATGAAATGGAGAGCATGTTGGCTAAGGACAAGAAAAAGCAACAGGAATTGTGTGCTGAT
CTGAAAGCCAAGTCTCAGGTATGTCTTTATCAGCAGCATGAAAATGGACTAATACAGTAA
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>CCDC148|130940|protein
MESEIKSLLNEENIGNECLCDLTNFEQELSEQQCTYLKNVINPIQQLRADLKYRQHHTLQHSHPHIEFNSMKVLEEVDFVKKQLKTVFERLRLEQQRIENDLSDW
SIKILDHSLEEKTNPLSELPIELESLECPYPDLKSSILSEFYKFTQKYQKKLQDFNLQLEDIYRNCQLSEEDHWIYQAILDQYPGDLFGRRTLYLDMLQRYFPHK
SRHDLVEHEKYCDQYRFAIEQQNILISNWNKNKKDFIQKAVLTLTEACATHEMESMLAKDKKKQQELCADLKAKSQVCLYQQHENGLIQ
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MESEIKSLLNEENIGNECLCDLTNFEQELSEQQCTYLKNVINPIQQLRADLKYRQHHTLQHSHPHIEFNSMKVLEEVDFVKKQLKTVFERLRLEQQRIENDLSDW
SIKILDHSLEEKTNPLSELPIELESLECPYPDLKSSILSEFYKFTQKYQKKLQDFNLQLEDIYRNCQLSEEDHWIYQAILDQYPGDLFGRRTLYLDMLQRYFPHK
SRHDLVEHEKYCDQYRFAIEQQNILISNWNKNKKDFIQKAVLTLTEACATHEMESMLAKDKKKQQELCADLKAKSQVCLYQQHENGLIQ
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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 | 1 (3) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Maestrini, 2009_1 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 126 | 126 (-) |  | | ASD | - - |
- - | ||
| Maestrini, 2009_3 | Replication | the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms | 390 | 390 (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Maestrini, 2009_4 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 126 (18.25%) | | | ASD | - - |
- | 188 (18.09%) |
- - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gregory, 2009 | USA | aCGH | |  | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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.