Evidence Details for MDC1
Basic Information Top
| Gene Symbol: | MDC1 ( DKFZp781A0122,KIAA0170,MGC166888,NFBD1 ) |
|---|---|
| Gene Full Name: | mediator of DNA-damage checkpoint 1 |
| Band: | 6p21.33 |
| Quick Links | Entrez ID:9656; OMIM: 607593; Uniprot ID:MDC1_HUMAN; ENSEMBL ID: ENSG00000137337; HGNC ID: 21163 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MDC1|9656|nucleotide
ATGGAGGACACCCAGGCTATTGACTGGGATGTTGAAGAAGAGGAGGAGACAGAGCAATCCAGTGAATCCTTGAGGTGTAACGTGGAGCCAGTAGGGCGGCTACAT
ATCTTTAGTGGTGCCCATGGACCAGAAAAAGATTTCCCACTACACCTCGGGAAGAATGTGGTAGGCCGAATGCCTGACTGCTCTGTGGCCCTGCCCTTTCCATCT
ATCTCCAAACAACATGCAGAGATTGAAATCTTAGCCTGGGACAAGGCACCTATCCTCCGAGACTGTGGGAGCCTTAATGGTACTCAAATCCTGAGACCTCCTAAG
GTTTTGAGCCCTGGGGTGAGTCACCGTCTGAGGGACCAGGAATTGATTCTCTTTGCTGACTTGCTCTGCCAGTACCATCGCCTGGATGTCTCTCTGCCCTTTGTC
TCCCGGGGCCCTCTGACAGTAGAAGAGACACCCAGAGTACAGGGAGAAACTCAACCCCAGAGGCTTCTGTTGGCTGAGGACTCGGAGGAGGAAGTAGATTTTCTT
TCTGAAAGGCGTATGGTAAAAAAATCAAGGACCACATCTTCCTCTGTGATAGTTCCAGAGAGTGATGAAGAGGGGCATTCCCCGGTCCTGGGCGGCCTTGGGCCG
CCTTTTGCCTTCAATTTGAACAGTGACACAGATGTGGAAGAAGGTCAGCAACCAGCCACAGAGGAGGCCTCCTCAGCTGCCAGAAGAGGTGCCACTGTAGAGGCA
AAGCAGTCTGAAGCTGAAGTTGTAACTGAAATCCAGCTTGAAAAGGATCAGCCTTTAGTGAAGGAGAGGGACAATGATACAAAAGTCAAGAGGGGTGCAGGGAAT
GGGGTGGTTCCAGCTGGGGTGATTCTGGAGAGGAGCCAACCTCCTGGAGAGGACAGTGACACAGATGTGGATGATGACAGCAGGCCTCCTGGAAGGCCAGCTGAG
GTCCATTTGGAAAGGGCTCAGCCTTTTGGCTTCATCGACAGCGACACTGATGCGGAAGAAGAGAGGATCCCAGCAACCCCAGTTGTCATTCCTATGAAGAAGAGG
AAGATCTTCCATGGAGTAGGTACAAGGGGTCCTGGAGCACCAGGCCTGGCCCATCTGCAGGAGAGCCAGGCTGGTAGTGATACAGATGTGGAAGAAGGCAAGGCC
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ATGGAGGACACCCAGGCTATTGACTGGGATGTTGAAGAAGAGGAGGAGACAGAGCAATCCAGTGAATCCTTGAGGTGTAACGTGGAGCCAGTAGGGCGGCTACAT
ATCTTTAGTGGTGCCCATGGACCAGAAAAAGATTTCCCACTACACCTCGGGAAGAATGTGGTAGGCCGAATGCCTGACTGCTCTGTGGCCCTGCCCTTTCCATCT
ATCTCCAAACAACATGCAGAGATTGAAATCTTAGCCTGGGACAAGGCACCTATCCTCCGAGACTGTGGGAGCCTTAATGGTACTCAAATCCTGAGACCTCCTAAG
GTTTTGAGCCCTGGGGTGAGTCACCGTCTGAGGGACCAGGAATTGATTCTCTTTGCTGACTTGCTCTGCCAGTACCATCGCCTGGATGTCTCTCTGCCCTTTGTC
TCCCGGGGCCCTCTGACAGTAGAAGAGACACCCAGAGTACAGGGAGAAACTCAACCCCAGAGGCTTCTGTTGGCTGAGGACTCGGAGGAGGAAGTAGATTTTCTT
TCTGAAAGGCGTATGGTAAAAAAATCAAGGACCACATCTTCCTCTGTGATAGTTCCAGAGAGTGATGAAGAGGGGCATTCCCCGGTCCTGGGCGGCCTTGGGCCG
CCTTTTGCCTTCAATTTGAACAGTGACACAGATGTGGAAGAAGGTCAGCAACCAGCCACAGAGGAGGCCTCCTCAGCTGCCAGAAGAGGTGCCACTGTAGAGGCA
AAGCAGTCTGAAGCTGAAGTTGTAACTGAAATCCAGCTTGAAAAGGATCAGCCTTTAGTGAAGGAGAGGGACAATGATACAAAAGTCAAGAGGGGTGCAGGGAAT
GGGGTGGTTCCAGCTGGGGTGATTCTGGAGAGGAGCCAACCTCCTGGAGAGGACAGTGACACAGATGTGGATGATGACAGCAGGCCTCCTGGAAGGCCAGCTGAG
GTCCATTTGGAAAGGGCTCAGCCTTTTGGCTTCATCGACAGCGACACTGATGCGGAAGAAGAGAGGATCCCAGCAACCCCAGTTGTCATTCCTATGAAGAAGAGG
AAGATCTTCCATGGAGTAGGTACAAGGGGTCCTGGAGCACCAGGCCTGGCCCATCTGCAGGAGAGCCAGGCTGGTAGTGATACAGATGTGGAAGAAGGCAAGGCC
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>MDC1|9656|protein
MEDTQAIDWDVEEEEETEQSSESLRCNVEPVGRLHIFSGAHGPEKDFPLHLGKNVVGRMPDCSVALPFPSISKQHAEIEILAWDKAPILRDCGSLNGTQILRPPK
VLSPGVSHRLRDQELILFADLLCQYHRLDVSLPFVSRGPLTVEETPRVQGETQPQRLLLAEDSEEEVDFLSERRMVKKSRTTSSSVIVPESDEEGHSPVLGGLGP
PFAFNLNSDTDVEEGQQPATEEASSAARRGATVEAKQSEAEVVTEIQLEKDQPLVKERDNDTKVKRGAGNGVVPAGVILERSQPPGEDSDTDVDDDSRPPGRPAE
VHLERAQPFGFIDSDTDAEEERIPATPVVIPMKKRKIFHGVGTRGPGAPGLAHLQESQAGSDTDVEEGKAPQAVPLEKSQASMVINSDTDDEEEVSAALTLAHLK
ESQPAIWNRDAEEDMPQRVVLLQRSQTTTERDSDTDVEEEELPVENREAVLKDHTKIRALVRAHSEKDQPPFGDSDDSVEADKSSPGIHLERSQASTTVDINTQV
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MEDTQAIDWDVEEEEETEQSSESLRCNVEPVGRLHIFSGAHGPEKDFPLHLGKNVVGRMPDCSVALPFPSISKQHAEIEILAWDKAPILRDCGSLNGTQILRPPK
VLSPGVSHRLRDQELILFADLLCQYHRLDVSLPFVSRGPLTVEETPRVQGETQPQRLLLAEDSEEEVDFLSERRMVKKSRTTSSSVIVPESDEEGHSPVLGGLGP
PFAFNLNSDTDVEEGQQPATEEASSAARRGATVEAKQSEAEVVTEIQLEKDQPLVKERDNDTKVKRGAGNGVVPAGVILERSQPPGEDSDTDVDDDSRPPGRPAE
VHLERAQPFGFIDSDTDAEEERIPATPVVIPMKKRKIFHGVGTRGPGAPGLAHLQESQAGSDTDVEEGKAPQAVPLEKSQASMVINSDTDDEEEVSAALTLAHLK
ESQPAIWNRDAEEDMPQRVVLLQRSQTTTERDSDTDVEEEELPVENREAVLKDHTKIRALVRAHSEKDQPPFGDSDDSVEADKSSPGIHLERSQASTTVDINTQV
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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) | 0 (0) | 0 (0) | 0 (0) | 2 (3) | 0 (0) | 0 (1) | 0 (0) | 22 (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 | ||||||
| Berkel, 2010 | Canada | SNP microarray |  | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies TopLow 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 |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Fromer M, 2014 | - | - | 94 | De novo mutations in schizophrenia implicate synaptic networks. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | |  | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
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.