Evidence Details for MED13
Basic Information Top
| Gene Symbol: | MED13 ( ARC250,DRIP250,HSPC221,KIAA0593,THRAP1,TRAP240 ) |
|---|---|
| Gene Full Name: | mediator complex subunit 13 |
| Band: | 17q23.2 |
| Quick Links | Entrez ID:9969; OMIM: 603808; Uniprot ID:MED13_HUMAN; ENSEMBL ID: ENSG00000108510; HGNC ID: 22474 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MED13|9969|nucleotide
ATGAGTGCCTCCTTCGTGCCGAACGGGGCCAGCCTGGAAGATTGTCACTGTAACCTCTTCTGCCTGGCTGACTTGACAGGAATTAAGTGGAAAAAATATGTATGG
CAAGGCCCAACTTCTGCCCCTATTCTGTTTCCTGTGACAGAAGAAGACCCCATTTTGAGCAGTTTTAGTCGCTGCCTTAAGGCAGATGTACTTGGTGTTTGGCGG
CGAGATCAAAGACCTGGAAGAAGAGAATTGTGGATATTTTGGTGGGGTGAAGACCCCAGTTTTGCTGACCTTATTCACCATGACTTATCAGAAGAAGAAGATGGA
GTGTGGGAGAATGGACTTTCCTATGAATGCCGTACTCTGCTTTTCAAAGCAGTTCACAATCTATTGGAACGGTGTTTAATGAACAGGAATTTTGTACGTATTGGC
AAGTGGTTTGTAAAGCCTTATGAAAAAGATGAAAAACCTATAAATAAAAGTGAACACTTGTCCTGCTCCTTCACCTTTTTCTTGCATGGAGACAGCAATGTTTGT
ACCAGTGTGGAAATTAACCAACATCAACCTGTATACCTTCTCAGTGAAGAGCATATCACCCTTGCTCAACAGTCTAATAGCCCATTTCAAGTTATCTTATGCCCA
TTTGGACTAAATGGCACTCTCACAGGACAGGCATTCAAGATGTCTGATTCAGCTACAAAAAAATTAATTGGTGAATGGAAACAGTTCTATCCTATCTCATGTTGC
TTGAAGGAGATGTCTGAAGAAAAACAGGAAGATATGGATTGGGAAGATGATTCTTTAGCTGCAGTAGAAGTTCTTGTTGCTGGTGTCCGAATGATCTACCCAGCA
TGCTTTGTTCTAGTCCCTCAGTCAGACATTCCTACTCCTAGCCCTGTGGGATCCACTCACTGTTCATCTTCTTGCTTGGGTGTCCACCAAGTGCCTGCTTCCACA
AGAGATCCTGCTATGTCTTCGGTTACGCTTACACCACCTACGTCTCCTGAGGAAGTCCAAACAGTTGATCCTCAGTCTGTCCAGAAGTGGGTCAAATTTTCTTCA
GTATCTGATGGCTTCAACTCCGATAGTACTAGCCACCATGGTGGGAAAATACCCAGAAAATTAGCAAATCATGTGGTGGATAGAGTTTGGCAAGAATGCAATATG
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ATGAGTGCCTCCTTCGTGCCGAACGGGGCCAGCCTGGAAGATTGTCACTGTAACCTCTTCTGCCTGGCTGACTTGACAGGAATTAAGTGGAAAAAATATGTATGG
CAAGGCCCAACTTCTGCCCCTATTCTGTTTCCTGTGACAGAAGAAGACCCCATTTTGAGCAGTTTTAGTCGCTGCCTTAAGGCAGATGTACTTGGTGTTTGGCGG
CGAGATCAAAGACCTGGAAGAAGAGAATTGTGGATATTTTGGTGGGGTGAAGACCCCAGTTTTGCTGACCTTATTCACCATGACTTATCAGAAGAAGAAGATGGA
GTGTGGGAGAATGGACTTTCCTATGAATGCCGTACTCTGCTTTTCAAAGCAGTTCACAATCTATTGGAACGGTGTTTAATGAACAGGAATTTTGTACGTATTGGC
AAGTGGTTTGTAAAGCCTTATGAAAAAGATGAAAAACCTATAAATAAAAGTGAACACTTGTCCTGCTCCTTCACCTTTTTCTTGCATGGAGACAGCAATGTTTGT
ACCAGTGTGGAAATTAACCAACATCAACCTGTATACCTTCTCAGTGAAGAGCATATCACCCTTGCTCAACAGTCTAATAGCCCATTTCAAGTTATCTTATGCCCA
TTTGGACTAAATGGCACTCTCACAGGACAGGCATTCAAGATGTCTGATTCAGCTACAAAAAAATTAATTGGTGAATGGAAACAGTTCTATCCTATCTCATGTTGC
TTGAAGGAGATGTCTGAAGAAAAACAGGAAGATATGGATTGGGAAGATGATTCTTTAGCTGCAGTAGAAGTTCTTGTTGCTGGTGTCCGAATGATCTACCCAGCA
TGCTTTGTTCTAGTCCCTCAGTCAGACATTCCTACTCCTAGCCCTGTGGGATCCACTCACTGTTCATCTTCTTGCTTGGGTGTCCACCAAGTGCCTGCTTCCACA
AGAGATCCTGCTATGTCTTCGGTTACGCTTACACCACCTACGTCTCCTGAGGAAGTCCAAACAGTTGATCCTCAGTCTGTCCAGAAGTGGGTCAAATTTTCTTCA
GTATCTGATGGCTTCAACTCCGATAGTACTAGCCACCATGGTGGGAAAATACCCAGAAAATTAGCAAATCATGTGGTGGATAGAGTTTGGCAAGAATGCAATATG
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>MED13|9969|protein
MSASFVPNGASLEDCHCNLFCLADLTGIKWKKYVWQGPTSAPILFPVTEEDPILSSFSRCLKADVLGVWRRDQRPGRRELWIFWWGEDPSFADLIHHDLSEEEDG
VWENGLSYECRTLLFKAVHNLLERCLMNRNFVRIGKWFVKPYEKDEKPINKSEHLSCSFTFFLHGDSNVCTSVEINQHQPVYLLSEEHITLAQQSNSPFQVILCP
FGLNGTLTGQAFKMSDSATKKLIGEWKQFYPISCCLKEMSEEKQEDMDWEDDSLAAVEVLVAGVRMIYPACFVLVPQSDIPTPSPVGSTHCSSSCLGVHQVPAST
RDPAMSSVTLTPPTSPEEVQTVDPQSVQKWVKFSSVSDGFNSDSTSHHGGKIPRKLANHVVDRVWQECNMNRAQNKRKYSASSGGLCEEATAAKVASWDFVEATQ
RTNCSCLRHKNLKSRNAGQQGQAPSLGQQQQILPKHKTNEKQEKSEKPQKRPLTPFHHRVSVSDDVGMDADSASQRLVISAPDSQVRFSNIRTNDVAKTPQMHGT
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MSASFVPNGASLEDCHCNLFCLADLTGIKWKKYVWQGPTSAPILFPVTEEDPILSSFSRCLKADVLGVWRRDQRPGRRELWIFWWGEDPSFADLIHHDLSEEEDG
VWENGLSYECRTLLFKAVHNLLERCLMNRNFVRIGKWFVKPYEKDEKPINKSEHLSCSFTFFLHGDSNVCTSVEINQHQPVYLLSEEHITLAQQSNSPFQVILCP
FGLNGTLTGQAFKMSDSATKKLIGEWKQFYPISCCLKEMSEEKQEDMDWEDDSLAAVEVLVAGVRMIYPACFVLVPQSDIPTPSPVGSTHCSSSCLGVHQVPAST
RDPAMSSVTLTPPTSPEEVQTVDPQSVQKWVKFSSVSDGFNSDSTSHHGGKIPRKLANHVVDRVWQECNMNRAQNKRKYSASSGGLCEEATAAKVASWDFVEATQ
RTNCSCLRHKNLKSRNAGQQGQAPSLGQQQQILPKHKTNEKQEKSEKPQKRPLTPFHHRVSVSDDVGMDADSASQRLVISAPDSQVRFSNIRTNDVAKTPQMHGT
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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 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (1) | 0 (0) | 4 (5) |
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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
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 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Dong S, 2014 | 787 | 787 | 42 | De novo insertions and deletions of predominantly paternal origin are associated with autism spectru |
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
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.