Evidence Details for MACC1
Basic Information Top
| Gene Symbol: | MACC1 ( 7A5,SH3BP4L ) |
|---|---|
| Gene Full Name: | metastasis associated in colon cancer 1 |
| Band: | 7p21.1 |
| Quick Links | Entrez ID:346389; OMIM: 612646; Uniprot ID:MACC1_HUMAN; ENSEMBL ID: ENSG00000183742; HGNC ID: 30215 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MACC1|346389|nucleotide
ATGCTAATCACTGAAAGAAAACATTTTCGGTCAGGAAGAATTGCACAAAGTATGTCTGAAGCAAATTTGATTGACATGGAAGCTGGAAAACTCTCAAAAAGTTGC
AATATTACAGAATGCCAGGACCCAGACTTGCTTCACAATTGGCCGGATGCTTTCACCCTTCGTGGTAATAATGCTTCCAAAGTTGCAAATCCATTCTGGAATCAA
CTGTCTGCTTCTAACCCATTTTTGGATGACATAACTCAACTAAGAAATAACAGGAAGAGAAATAATATTTCCATCTTAAAGGAAGATCCTTTTCTTTTCTGTAGA
GAAATAGAAAATGGAAATTCTTTTGATTCCTCCGGTGATGAACTTGATGTGCATCAGTTACTTAGGCAGACTTCCTCAAGAAATTCTGGAAGATCTAAAAGTGTT
TCAGAACTTCTGGACATTTTAGACGACACAGCACATGCCCATCAGAGTATACATAACTCTGACCAGATCCTACTACACGACTTAGAGTGGCTTAAAAATGATCGG
GAGGCTTATAAAATGGCTTGGTTAAGTCAACGCCAGCTGGCCCGCTCCTGCCTTGATTTGAATACAATTAGTCAGAGCCCTGGATGGGCCCAGACACAACTTGCG
GAGGTCACCATAGCTTGCAAAGTAAACCATCAAGGAGGGTCAGTACAATTACCTGAATCAGACATCACTGTTCATGTGCCCCAAGGTCATGTGGCTGTGGGAGAA
TTCCAAGAGGTGTCTCTAAGGGCTTTCCTTGATCCGCCACACATGCTTAACCATGATCTTTCGTGCACTGTGAGCCCGTTGTTGGAAATCATGTTAGGCAACCTC
AATACAATGGAAGCCCTTTTGCTGGAGATGAAAATTGGGGCTGAAGTAAGAAAGGATCCTTTCAGCCAAGTCATGACAGAAATGGTGTGTTTACACAGCTTGGGT
AAAGAAGGCCCTTTTAAAGTTTTAAGCAACTGCTACATTTATAAAGACACCATCCAAGTCAAGCTAATCGACTTGAGTCAGGTAATGTATCTAGTGGTTGCTGCA
CAAGCTAAAGCTCTTCCGTCACCAGCTGCCACCATTTGGGATTATATCCACAAAACCACCTCAATTGGAATTTATGGACCCAAATATATCCATCCCAGTTTTACT
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ATGCTAATCACTGAAAGAAAACATTTTCGGTCAGGAAGAATTGCACAAAGTATGTCTGAAGCAAATTTGATTGACATGGAAGCTGGAAAACTCTCAAAAAGTTGC
AATATTACAGAATGCCAGGACCCAGACTTGCTTCACAATTGGCCGGATGCTTTCACCCTTCGTGGTAATAATGCTTCCAAAGTTGCAAATCCATTCTGGAATCAA
CTGTCTGCTTCTAACCCATTTTTGGATGACATAACTCAACTAAGAAATAACAGGAAGAGAAATAATATTTCCATCTTAAAGGAAGATCCTTTTCTTTTCTGTAGA
GAAATAGAAAATGGAAATTCTTTTGATTCCTCCGGTGATGAACTTGATGTGCATCAGTTACTTAGGCAGACTTCCTCAAGAAATTCTGGAAGATCTAAAAGTGTT
TCAGAACTTCTGGACATTTTAGACGACACAGCACATGCCCATCAGAGTATACATAACTCTGACCAGATCCTACTACACGACTTAGAGTGGCTTAAAAATGATCGG
GAGGCTTATAAAATGGCTTGGTTAAGTCAACGCCAGCTGGCCCGCTCCTGCCTTGATTTGAATACAATTAGTCAGAGCCCTGGATGGGCCCAGACACAACTTGCG
GAGGTCACCATAGCTTGCAAAGTAAACCATCAAGGAGGGTCAGTACAATTACCTGAATCAGACATCACTGTTCATGTGCCCCAAGGTCATGTGGCTGTGGGAGAA
TTCCAAGAGGTGTCTCTAAGGGCTTTCCTTGATCCGCCACACATGCTTAACCATGATCTTTCGTGCACTGTGAGCCCGTTGTTGGAAATCATGTTAGGCAACCTC
AATACAATGGAAGCCCTTTTGCTGGAGATGAAAATTGGGGCTGAAGTAAGAAAGGATCCTTTCAGCCAAGTCATGACAGAAATGGTGTGTTTACACAGCTTGGGT
AAAGAAGGCCCTTTTAAAGTTTTAAGCAACTGCTACATTTATAAAGACACCATCCAAGTCAAGCTAATCGACTTGAGTCAGGTAATGTATCTAGTGGTTGCTGCA
CAAGCTAAAGCTCTTCCGTCACCAGCTGCCACCATTTGGGATTATATCCACAAAACCACCTCAATTGGAATTTATGGACCCAAATATATCCATCCCAGTTTTACT
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>MACC1|346389|protein
MLITERKHFRSGRIAQSMSEANLIDMEAGKLSKSCNITECQDPDLLHNWPDAFTLRGNNASKVANPFWNQLSASNPFLDDITQLRNNRKRNNISILKEDPFLFCR
EIENGNSFDSSGDELDVHQLLRQTSSRNSGRSKSVSELLDILDDTAHAHQSIHNSDQILLHDLEWLKNDREAYKMAWLSQRQLARSCLDLNTISQSPGWAQTQLA
EVTIACKVNHQGGSVQLPESDITVHVPQGHVAVGEFQEVSLRAFLDPPHMLNHDLSCTVSPLLEIMLGNLNTMEALLLEMKIGAEVRKDPFSQVMTEMVCLHSLG
KEGPFKVLSNCYIYKDTIQVKLIDLSQVMYLVVAAQAKALPSPAATIWDYIHKTTSIGIYGPKYIHPSFTVVLTVCGHNYMPGQLTISDIKKGGKNISPVVFQLW
GKQSFLLDKPQDLSISIFSCDPDFEVKTEGERKEIKQKQLEAGEVVHQQFLFSLVEHREMHLFDFCVQVEPPNGEPVAQFSITTPDPTPNLKRLSNLPGYLQKKE
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MLITERKHFRSGRIAQSMSEANLIDMEAGKLSKSCNITECQDPDLLHNWPDAFTLRGNNASKVANPFWNQLSASNPFLDDITQLRNNRKRNNISILKEDPFLFCR
EIENGNSFDSSGDELDVHQLLRQTSSRNSGRSKSVSELLDILDDTAHAHQSIHNSDQILLHDLEWLKNDREAYKMAWLSQRQLARSCLDLNTISQSPGWAQTQLA
EVTIACKVNHQGGSVQLPESDITVHVPQGHVAVGEFQEVSLRAFLDPPHMLNHDLSCTVSPLLEIMLGNLNTMEALLLEMKIGAEVRKDPFSQVMTEMVCLHSLG
KEGPFKVLSNCYIYKDTIQVKLIDLSQVMYLVVAAQAKALPSPAATIWDYIHKTTSIGIYGPKYIHPSFTVVLTVCGHNYMPGQLTISDIKKGGKNISPVVFQLW
GKQSFLLDKPQDLSISIFSCDPDFEVKTEGERKEIKQKQLEAGEVVHQQFLFSLVEHREMHLFDFCVQVEPPNGEPVAQFSITTPDPTPNLKRLSNLPGYLQKKE
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (1) | 0 (0) | 0 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage 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 |
|---|---|---|---|---|
| Neale BM, 2012 | 175 | 175 | 173 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. |
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Bi C, 2012 | China | GAII | | | - | - | - | - | 67 | - |
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.