Evidence Details for MATN1
Basic Information Top
| Gene Symbol: | MATN1 ( CMP,CRTM ) |
|---|---|
| Gene Full Name: | matrilin 1, cartilage matrix protein |
| Band: | 1p35.2 |
| Quick Links | Entrez ID:4146; OMIM: 115437; Uniprot ID:MATN1_HUMAN; ENSEMBL ID: ENSG00000162510; HGNC ID: 6907 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MATN1|4146|nucleotide
ATGAGGGTCCTCTCTGGCACTAGCCTCATGCTCTGCAGCCTGCTGCTGCTGCTCCAGGCCCTGTGCAGCCCTGGCCTCGCCCCCCAGTCCAGAGGCCATCTCTGC
CGGACGCGGCCCACAGACCTGGTGTTTGTTGTCGACAGCTCTCGCAGCGTTCGGCCTGTTGAATTTGAGAAAGTGAAGGTATTCCTGTCCCAGGTCATCGAGTCG
CTGGACGTGGGGCCCAATGCCACCCGGGTGGGCATGGTCAACTATGCCAGCACCGTGAAGCAGGAGTTCTCGCTGCGGGCTCATGTCTCCAAGGCCGCACTGCTG
CAGGCTGTGCGCCGTATCCAGCCGCTGTCCACAGGCACCATGACCGGCCTGGCCATCCAGTTCGCTATCACCAAAGCCTTCGGCGATGCAGAGGGTGGTCGTTCC
AGGTCCCCTGACATCAGCAAGGTGGTCATCGTGGTGACAGACGGGAGGCCCCAGGACAGCGTGCAGGACGTGTCTGCGCGGGCCCGGGCCAGCGGCGTCGAGCTG
TTCGCCATCGGAGTGGGCAGCGTGGACAAGGCCACGCTGCGGCAGATCGCCAGCGAGCCGCAGGACGAACACGTCGATTACGTGGAGAGCTACAGCGTCATCGAG
AAGCTGTCCAGGAAGTTCCAGGAGGCCTTCTGCGTGGTGTCAGACCTGTGCGCCACAGGGGACCATGACTGTGAGCAGGTGTGCATCAGCTCCCCCGGTTCCTAC
ACCTGCGCCTGCCACGAGGGCTTCACTCTGAACAGCGACGGCAAGACCTGCAATGTCTGCAGTGGTGGTGGTGGCAGCTCGGCCACTGACCTGGTCTTCCTCATT
GACGGATCCAAGAGTGTGAGGCCAGAGAACTTTGAGCTGGTGAAGAAGTTCATCAGTCAGATCGTGGATACGCTGGACGTGTCAGACAAGCTGGCCCAGGTGGGG
CTGGTGCAGTACTCAAGCTCTGTGCGCCAGGAGTTCCCCCTGGGTCGCTTCCACACCAAGAAGGACATCAAGGCGGCTGTGCGGAATATGTCCTACATGGAGAAG
GGCACAATGACTGGGGCTGCTCTCAAGTACCTCATTGACAATTCCTTCACTGTGTCCAGTGGGGCTAGGCCCGGGGCCCAGAAGGTGGGCATTGTCTTCACTGAT
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ATGAGGGTCCTCTCTGGCACTAGCCTCATGCTCTGCAGCCTGCTGCTGCTGCTCCAGGCCCTGTGCAGCCCTGGCCTCGCCCCCCAGTCCAGAGGCCATCTCTGC
CGGACGCGGCCCACAGACCTGGTGTTTGTTGTCGACAGCTCTCGCAGCGTTCGGCCTGTTGAATTTGAGAAAGTGAAGGTATTCCTGTCCCAGGTCATCGAGTCG
CTGGACGTGGGGCCCAATGCCACCCGGGTGGGCATGGTCAACTATGCCAGCACCGTGAAGCAGGAGTTCTCGCTGCGGGCTCATGTCTCCAAGGCCGCACTGCTG
CAGGCTGTGCGCCGTATCCAGCCGCTGTCCACAGGCACCATGACCGGCCTGGCCATCCAGTTCGCTATCACCAAAGCCTTCGGCGATGCAGAGGGTGGTCGTTCC
AGGTCCCCTGACATCAGCAAGGTGGTCATCGTGGTGACAGACGGGAGGCCCCAGGACAGCGTGCAGGACGTGTCTGCGCGGGCCCGGGCCAGCGGCGTCGAGCTG
TTCGCCATCGGAGTGGGCAGCGTGGACAAGGCCACGCTGCGGCAGATCGCCAGCGAGCCGCAGGACGAACACGTCGATTACGTGGAGAGCTACAGCGTCATCGAG
AAGCTGTCCAGGAAGTTCCAGGAGGCCTTCTGCGTGGTGTCAGACCTGTGCGCCACAGGGGACCATGACTGTGAGCAGGTGTGCATCAGCTCCCCCGGTTCCTAC
ACCTGCGCCTGCCACGAGGGCTTCACTCTGAACAGCGACGGCAAGACCTGCAATGTCTGCAGTGGTGGTGGTGGCAGCTCGGCCACTGACCTGGTCTTCCTCATT
GACGGATCCAAGAGTGTGAGGCCAGAGAACTTTGAGCTGGTGAAGAAGTTCATCAGTCAGATCGTGGATACGCTGGACGTGTCAGACAAGCTGGCCCAGGTGGGG
CTGGTGCAGTACTCAAGCTCTGTGCGCCAGGAGTTCCCCCTGGGTCGCTTCCACACCAAGAAGGACATCAAGGCGGCTGTGCGGAATATGTCCTACATGGAGAAG
GGCACAATGACTGGGGCTGCTCTCAAGTACCTCATTGACAATTCCTTCACTGTGTCCAGTGGGGCTAGGCCCGGGGCCCAGAAGGTGGGCATTGTCTTCACTGAT
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>MATN1|4146|protein
MRVLSGTSLMLCSLLLLLQALCSPGLAPQSRGHLCRTRPTDLVFVVDSSRSVRPVEFEKVKVFLSQVIESLDVGPNATRVGMVNYASTVKQEFSLRAHVSKAALL
QAVRRIQPLSTGTMTGLAIQFAITKAFGDAEGGRSRSPDISKVVIVVTDGRPQDSVQDVSARARASGVELFAIGVGSVDKATLRQIASEPQDEHVDYVESYSVIE
KLSRKFQEAFCVVSDLCATGDHDCEQVCISSPGSYTCACHEGFTLNSDGKTCNVCSGGGGSSATDLVFLIDGSKSVRPENFELVKKFISQIVDTLDVSDKLAQVG
LVQYSSSVRQEFPLGRFHTKKDIKAAVRNMSYMEKGTMTGAALKYLIDNSFTVSSGARPGAQKVGIVFTDGRSQDYINDAAKKAKDLGFKMFAVGVGNAVEDELR
EIASEPVAEHYFYTADFKTINQIGKKLQKKICVEEDPCACESLVKFQAKVEGLLQALTRKLEAVSKRLAILENTVV
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MRVLSGTSLMLCSLLLLLQALCSPGLAPQSRGHLCRTRPTDLVFVVDSSRSVRPVEFEKVKVFLSQVIESLDVGPNATRVGMVNYASTVKQEFSLRAHVSKAALL
QAVRRIQPLSTGTMTGLAIQFAITKAFGDAEGGRSRSPDISKVVIVVTDGRPQDSVQDVSARARASGVELFAIGVGSVDKATLRQIASEPQDEHVDYVESYSVIE
KLSRKFQEAFCVVSDLCATGDHDCEQVCISSPGSYTCACHEGFTLNSDGKTCNVCSGGGGSSATDLVFLIDGSKSVRPENFELVKKFISQIVDTLDVSDKLAQVG
LVQYSSSVRQEFPLGRFHTKKDIKAAVRNMSYMEKGTMTGAALKYLIDNSFTVSSGARPGAQKVGIVFTDGRSQDYINDAAKKAKDLGFKMFAVGVGNAVEDELR
EIASEPVAEHYFYTADFKTINQIGKKLQKKICVEEDPCACESLVKFQAKVEGLLQALTRKLEAVSKRLAILENTVV
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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 (3) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (1) | 0 (0) | 10 (6) |
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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
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 |
|---|---|---|---|---|
| Chen R, 2017 | 107 | 116 | 128 | Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut |
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.