Evidence Details for MCM7
Basic Information Top
| Gene Symbol: | MCM7 ( CDC47,MCM2,P1.1-MCM3,P1CDC47,P85MCM,PNAS146 ) |
|---|---|
| Gene Full Name: | minichromosome maintenance complex component 7 |
| Band: | 7q22.1 |
| Quick Links | Entrez ID:4176; OMIM: 600592; Uniprot ID:MCM7_HUMAN; ENSEMBL ID: ENSG00000166508; HGNC ID: 6950 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MCM7|4176|nucleotide
ATGGCACTGAAGGACTACGCGCTAGAGAAGGAAAAGGTTAAGAAGTTCTTACAAGAGTTCTACCAGGATGATGAACTCGGGAAGAAGCAGTTCAAGTATGGGAAC
CAGTTGGTTCGGCTGGCTCATCGGGAACAGGTGGCTCTGTATGTGGACCTGGACGACGTAGCCGAGGATGACCCCGAGTTGGTGGACTCAATTTGTGAGAATGCC
AGGCGCTACGCGAAGCTCTTTGCTGATGCCGTACAAGAGCTGCTGCCTCAGTACAAGGAGAGGGAAGTGGTAAATAAAGATGTCCTGGACGTTTACATTGAGCAT
CGGCTAATGATGGAGCAGCGGAGTCGGGACCCTGGGATGGTCCGAAGCCCCCAGAACCAGTACCCTGCTGAACTCATGCGCAGATTTGAGCTGTATTTTCAAGGC
CCTAGCAGCAACAAGCCTCGTGTGATCCGGGAAGTGCGGGCTGACTCTGTGGGGAAGTTGGTAACTGTGCGTGGAATCGTCACTCGTGTCTCTGAAGTCAAACCC
AAGATGGTGGTGGCCACTTACACTTGTGACCAGTGTGGGGCAGAGACCTACCAGCCGATCCAGTCTCCCACTTTCATGCCTCTGATCATGTGCCCAAGCCAGGAG
TGCCAAACCAACCGCTCAGGAGGGCGGCTGTATCTGCAGACACGGGGCTCCAGATTCATCAAATTCCAGGAGATGAAGATGCAAGAACATAGTGATCAGGTGCCT
GTGGGAAATATCCCTCGTAGTATCACGGTGCTGGTAGAAGGAGAGAACACAAGGATTGCCCAGCCTGGAGACCACGTCAGCGTCACTGGTATTTTCTTGCCAATC
CTGCGCACTGGGTTCCGACAGGTGGTACAGGGTTTACTCTCAGAAACCTACCTGGAAGCCCATCGGATTGTGAAGATGAACAAGAGTGAGGATGATGAGTCTGGG
GCTGGAGAGCTCACCAGGGAGGAGCTGAGGCAAATTGCAGAGGAGGATTTCTACGAAAAGCTGGCAGCTTCAATCGCCCCAGAAATATACGGGCATGAAGATGTG
AAGAAGGCACTGCTGCTCCTGCTAGTCGGGGGTGTGGACCAGTCTCCTCGAGGCATGAAAATCCGGGGCAACATCAACATCTGTCTGATGGGGGATCCTGGTGTG
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ATGGCACTGAAGGACTACGCGCTAGAGAAGGAAAAGGTTAAGAAGTTCTTACAAGAGTTCTACCAGGATGATGAACTCGGGAAGAAGCAGTTCAAGTATGGGAAC
CAGTTGGTTCGGCTGGCTCATCGGGAACAGGTGGCTCTGTATGTGGACCTGGACGACGTAGCCGAGGATGACCCCGAGTTGGTGGACTCAATTTGTGAGAATGCC
AGGCGCTACGCGAAGCTCTTTGCTGATGCCGTACAAGAGCTGCTGCCTCAGTACAAGGAGAGGGAAGTGGTAAATAAAGATGTCCTGGACGTTTACATTGAGCAT
CGGCTAATGATGGAGCAGCGGAGTCGGGACCCTGGGATGGTCCGAAGCCCCCAGAACCAGTACCCTGCTGAACTCATGCGCAGATTTGAGCTGTATTTTCAAGGC
CCTAGCAGCAACAAGCCTCGTGTGATCCGGGAAGTGCGGGCTGACTCTGTGGGGAAGTTGGTAACTGTGCGTGGAATCGTCACTCGTGTCTCTGAAGTCAAACCC
AAGATGGTGGTGGCCACTTACACTTGTGACCAGTGTGGGGCAGAGACCTACCAGCCGATCCAGTCTCCCACTTTCATGCCTCTGATCATGTGCCCAAGCCAGGAG
TGCCAAACCAACCGCTCAGGAGGGCGGCTGTATCTGCAGACACGGGGCTCCAGATTCATCAAATTCCAGGAGATGAAGATGCAAGAACATAGTGATCAGGTGCCT
GTGGGAAATATCCCTCGTAGTATCACGGTGCTGGTAGAAGGAGAGAACACAAGGATTGCCCAGCCTGGAGACCACGTCAGCGTCACTGGTATTTTCTTGCCAATC
CTGCGCACTGGGTTCCGACAGGTGGTACAGGGTTTACTCTCAGAAACCTACCTGGAAGCCCATCGGATTGTGAAGATGAACAAGAGTGAGGATGATGAGTCTGGG
GCTGGAGAGCTCACCAGGGAGGAGCTGAGGCAAATTGCAGAGGAGGATTTCTACGAAAAGCTGGCAGCTTCAATCGCCCCAGAAATATACGGGCATGAAGATGTG
AAGAAGGCACTGCTGCTCCTGCTAGTCGGGGGTGTGGACCAGTCTCCTCGAGGCATGAAAATCCGGGGCAACATCAACATCTGTCTGATGGGGGATCCTGGTGTG
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>MCM7|4176|protein
MALKDYALEKEKVKKFLQEFYQDDELGKKQFKYGNQLVRLAHREQVALYVDLDDVAEDDPELVDSICENARRYAKLFADAVQELLPQYKEREVVNKDVLDVYIEH
RLMMEQRSRDPGMVRSPQNQYPAELMRRFELYFQGPSSNKPRVIREVRADSVGKLVTVRGIVTRVSEVKPKMVVATYTCDQCGAETYQPIQSPTFMPLIMCPSQE
CQTNRSGGRLYLQTRGSRFIKFQEMKMQEHSDQVPVGNIPRSITVLVEGENTRIAQPGDHVSVTGIFLPILRTGFRQVVQGLLSETYLEAHRIVKMNKSEDDESG
AGELTREELRQIAEEDFYEKLAASIAPEIYGHEDVKKALLLLLVGGVDQSPRGMKIRGNINICLMGDPGVAKSQLLSYIDRLAPRSQYTTGRGSSGVGLTAAVLR
DSVSGELTLEGGALVLADQGVCCIDEFDKMAEADRTAIHEVMEQQTISIAKAGILTTLNARCSILAAANPAYGRYNPRRSLEQNIQLPAALLSRFDLLWLIQDRP
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MALKDYALEKEKVKKFLQEFYQDDELGKKQFKYGNQLVRLAHREQVALYVDLDDVAEDDPELVDSICENARRYAKLFADAVQELLPQYKEREVVNKDVLDVYIEH
RLMMEQRSRDPGMVRSPQNQYPAELMRRFELYFQGPSSNKPRVIREVRADSVGKLVTVRGIVTRVSEVKPKMVVATYTCDQCGAETYQPIQSPTFMPLIMCPSQE
CQTNRSGGRLYLQTRGSRFIKFQEMKMQEHSDQVPVGNIPRSITVLVEGENTRIAQPGDHVSVTGIFLPILRTGFRQVVQGLLSETYLEAHRIVKMNKSEDDESG
AGELTREELRQIAEEDFYEKLAASIAPEIYGHEDVKKALLLLLVGGVDQSPRGMKIRGNINICLMGDPGVAKSQLLSYIDRLAPRSQYTTGRGSSGVGLTAAVLR
DSVSGELTLEGGALVLADQGVCCIDEFDKMAEADRTAIHEVMEQQTISIAKAGILTTLNARCSILAAANPAYGRYNPRRSLEQNIQLPAALLSRFDLLWLIQDRP
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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 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 6 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
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_5 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 (20.47%) |  | | ASD | - - |
- | 188 (21.28%) |
- - | ||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.