Evidence Details for UNC13C
Basic Information Top
| Gene Symbol: | UNC13C ( DKFZp547H074 ) |
|---|---|
| Gene Full Name: | unc-13 homolog C (C. elegans) |
| Band: | 15q21.3 |
| Quick Links | Entrez ID:440279; OMIM: NA; Uniprot ID:UN13C_HUMAN; ENSEMBL ID: ENSG00000137766; HGNC ID: 23149 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>UNC13C|440279|nucleotide
ATGGTGGCTAATTTTTTCAAGAGCTTGATTTTACCTTACATTCATAAGCTTTGCAAAGGAATGTTTACAAAGAAATTGGGAAATACAAACAAAAACAAAGAGTAT
CGTCAGCAGAAAAAGGATCAAGACTTCCCCACTGCTGGCCAGACCAAATCCCCCAAATTTTCTTACACTTTTAAAAGCACTGTAAAGAAGATTGCAAAGTGTTCA
TCCACTCACAACTTATCCACTGAGGAAGACGAGGCCAGTAAAGAGTTTTCCCTCTCACCAACATTCAGTTACCGAGTAGCTATTGCCAATGGCCTACAAAAGAAT
GCTAAAGTAACCAACAGTGATAATGAGGATCTGCTTCAAGAGCTCTCTTCAATCGAGAGTTCCTACTCAGAATCATTAAATGAACTAAGGAGTAGCACAGAAAAC
CAGGCACAATCAACACACACAATGCCAGTTAGACGCAACAGAAAGAGTTCAAGCAGCCTTGCACCCTCTGAGGGCAGCTCTGACGGGGAGCGTACTCTACATGGC
TTAAAACTGGGAGCTTTACGAAAACTGAGAAAATGGAAAAAGAGTCAAGAATGTGTCTCCTCAGACTCAGAGTTAAGCACCATGAAAAAATCCTGGGGAATAAGA
AGTAAGTCTTTGGACAGAACTGTCCGAAACCCAAAGACAAATGCCCTGGAGCCAGGGTTCAGTTCCTCTGGCTGCATTAGCCAAACACATGATGTCATGGAAATG
ATCTTTAAGGAACTTCAGGGAATAAGTCAGATTGAAACAGAACTTTCTGAACTACGAGGGCACGTCAATGCTCTCAAGCACTCCATCGATGAGATCTCCAGCAGT
GTGGAGGTTGTACAAAGTGAAATTGAGCAGTTGCGCACAGGGTTTGTCCAGTCTCGGAGGGAAACTAGAGACATCCATGATTATATTAAGCACTTAGGTCATATG
GGTAGCAAGGCAAGCCTGAGATTTTTAAATGTGACTGAAGAAAGATTTGAATATGTTGAAAGCGTGGTGTACCAAATTCTAATAGATAAAATGGGTTTTTCAGAT
GCACCAAATGCTATTAAAATTGAATTTGCTCAGAGGATAGGACACCAGAGAGACTGCCCAAATGCAAAGCCTCGACCCATACTTGTGTACTTTGAAACCCCTCAA
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ATGGTGGCTAATTTTTTCAAGAGCTTGATTTTACCTTACATTCATAAGCTTTGCAAAGGAATGTTTACAAAGAAATTGGGAAATACAAACAAAAACAAAGAGTAT
CGTCAGCAGAAAAAGGATCAAGACTTCCCCACTGCTGGCCAGACCAAATCCCCCAAATTTTCTTACACTTTTAAAAGCACTGTAAAGAAGATTGCAAAGTGTTCA
TCCACTCACAACTTATCCACTGAGGAAGACGAGGCCAGTAAAGAGTTTTCCCTCTCACCAACATTCAGTTACCGAGTAGCTATTGCCAATGGCCTACAAAAGAAT
GCTAAAGTAACCAACAGTGATAATGAGGATCTGCTTCAAGAGCTCTCTTCAATCGAGAGTTCCTACTCAGAATCATTAAATGAACTAAGGAGTAGCACAGAAAAC
CAGGCACAATCAACACACACAATGCCAGTTAGACGCAACAGAAAGAGTTCAAGCAGCCTTGCACCCTCTGAGGGCAGCTCTGACGGGGAGCGTACTCTACATGGC
TTAAAACTGGGAGCTTTACGAAAACTGAGAAAATGGAAAAAGAGTCAAGAATGTGTCTCCTCAGACTCAGAGTTAAGCACCATGAAAAAATCCTGGGGAATAAGA
AGTAAGTCTTTGGACAGAACTGTCCGAAACCCAAAGACAAATGCCCTGGAGCCAGGGTTCAGTTCCTCTGGCTGCATTAGCCAAACACATGATGTCATGGAAATG
ATCTTTAAGGAACTTCAGGGAATAAGTCAGATTGAAACAGAACTTTCTGAACTACGAGGGCACGTCAATGCTCTCAAGCACTCCATCGATGAGATCTCCAGCAGT
GTGGAGGTTGTACAAAGTGAAATTGAGCAGTTGCGCACAGGGTTTGTCCAGTCTCGGAGGGAAACTAGAGACATCCATGATTATATTAAGCACTTAGGTCATATG
GGTAGCAAGGCAAGCCTGAGATTTTTAAATGTGACTGAAGAAAGATTTGAATATGTTGAAAGCGTGGTGTACCAAATTCTAATAGATAAAATGGGTTTTTCAGAT
GCACCAAATGCTATTAAAATTGAATTTGCTCAGAGGATAGGACACCAGAGAGACTGCCCAAATGCAAAGCCTCGACCCATACTTGTGTACTTTGAAACCCCTCAA
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>UNC13C|440279|protein
MVANFFKSLILPYIHKLCKGMFTKKLGNTNKNKEYRQQKKDQDFPTAGQTKSPKFSYTFKSTVKKIAKCSSTHNLSTEEDEASKEFSLSPTFSYRVAIANGLQKN
AKVTNSDNEDLLQELSSIESSYSESLNELRSSTENQAQSTHTMPVRRNRKSSSSLAPSEGSSDGERTLHGLKLGALRKLRKWKKSQECVSSDSELSTMKKSWGIR
SKSLDRTVRNPKTNALEPGFSSSGCISQTHDVMEMIFKELQGISQIETELSELRGHVNALKHSIDEISSSVEVVQSEIEQLRTGFVQSRRETRDIHDYIKHLGHM
GSKASLRFLNVTEERFEYVESVVYQILIDKMGFSDAPNAIKIEFAQRIGHQRDCPNAKPRPILVYFETPQQRDSVLKKSYKLKGTGIGISTDILTHDIRERKEKG
IPSSQTYESMAIKLSTPEPKIKKNNWQSPDDSDEDLESDLNRNSYAVLSKSELLTKGSTSKPSSKSHSARSKNKTANSSRISNKSDYDKISSQLPESDILEKQTT
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MVANFFKSLILPYIHKLCKGMFTKKLGNTNKNKEYRQQKKDQDFPTAGQTKSPKFSYTFKSTVKKIAKCSSTHNLSTEEDEASKEFSLSPTFSYRVAIANGLQKN
AKVTNSDNEDLLQELSSIESSYSESLNELRSSTENQAQSTHTMPVRRNRKSSSSLAPSEGSSDGERTLHGLKLGALRKLRKWKKSQECVSSDSELSTMKKSWGIR
SKSLDRTVRNPKTNALEPGFSSSGCISQTHDVMEMIFKELQGISQIETELSELRGHVNALKHSIDEISSSVEVVQSEIEQLRTGFVQSRRETRDIHDYIKHLGHM
GSKASLRFLNVTEERFEYVESVVYQILIDKMGFSDAPNAIKIEFAQRIGHQRDCPNAKPRPILVYFETPQQRDSVLKKSYKLKGTGIGISTDILTHDIRERKEKG
IPSSQTYESMAIKLSTPEPKIKKNNWQSPDDSDEDLESDLNRNSYAVLSKSELLTKGSTSKPSSKSHSARSKNKTANSSRISNKSDYDKISSQLPESDILEKQTT
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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) | 1 (4) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
| 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 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.