AutismKB 2.0

Evidence Details for MED13


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Basic Information Top
Gene Symbol:MED13 ( ARC250,DRIP250,HSPC221,KIAA0593,THRAP1,TRAP240 )
Gene Full Name: mediator complex subunit 13
Band: 17q23.2
Quick LinksEntrez 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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>MED13|9969|protein
MSASFVPNGASLEDCHCNLFCLADLTGIKWKKYVWQGPTSAPILFPVTEEDPILSSFSRCLKADVLGVWRRDQRPGRRELWIFWWGEDPSFADLIHHDLSEEEDG
VWENGLSYECRTLLFKAVHNLLERCLMNRNFVRIGKWFVKPYEKDEKPINKSEHLSCSFTFFLHGDSNVCTSVEINQHQPVYLLSEEHITLAQQSNSPFQVILCP
FGLNGTLTGQAFKMSDSATKKLIGEWKQFYPISCCLKEMSEEKQEDMDWEDDSLAAVEVLVAGVRMIYPACFVLVPQSDIPTPSPVGSTHCSSSCLGVHQVPAST
RDPAMSSVTLTPPTSPEEVQTVDPQSVQKWVKFSSVSDGFNSDSTSHHGGKIPRKLANHVVDRVWQECNMNRAQNKRKYSASSGGLCEEATAAKVASWDFVEATQ
RTNCSCLRHKNLKSRNAGQQGQAPSLGQQQQILPKHKTNEKQEKSEKPQKRPLTPFHHRVSVSDDVGMDADSASQRLVISAPDSQVRFSNIRTNDVAKTPQMHGT
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Evidence summary Top

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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV 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-bandautism - - - - 278 - 278
Linkage Studies Top