Evidence Details for ABCC10
Basic Information Top
| Gene Symbol: | ABCC10 ( EST182763,MRP7,SIMRP7 ) |
|---|---|
| Gene Full Name: | ATP-binding cassette, sub-family C (CFTR/MRP), member 10 |
| Band: | 6p21.1 |
| Quick Links | Entrez ID:89845; OMIM: 612509; Uniprot ID:MRP7_HUMAN; ENSEMBL ID: ENSG00000124574; HGNC ID: 52 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ABCC10|89845|nucleotide
ATGGAACGACTTCTGGCCCAGCTGTGCGGCAGCAGCGCAGCGTGGCCGCTCCCGCTGTGGGAGGGGGACACCACAGGCCACTGCTTCACCCAGCTGGTGCTCAGC
GCCCTGCCCCACGCGCTCCTCGCCGTGCTCAGTGCCTGTTACTTGGGCACCCCGAGGAGTCCAGATTACATCCTACCCTGCAGTCCTGGATGGCGCCTCCGACTT
GCAGCTTCCTTCCTGCTTTCCGTCTTCCCGCTGCTAGACCTTCTTCCAGTTGCTTTGCCACCAGGGGCAGGCCCAGGACCCATAGGGCTAGAGGTGTTGGCAGGG
TGCGTGGCAGCTGTGGCCTGGATCAGCCACAGCCTGGCCCTGTGGGTGTTGGCACATTCCCCTCATGGCCACTCCCGGGGTCCCTTGGCCTTGGCCCTGGTAGCC
TTGCTGCCAGCTCCAGCCCTAGTGCTGACCGTGTTGTGGCATTGCCAGCGAGGCACACTTCTGCCCCCACTTCTCCCAGGGCCCATGGCCCGCCTATGCTTGCTC
ATCCTGCAGCTGGCTGCACTCTTGGCCTATGCACTGGGATGGGCAGCTCCTGGGGGACCACGAGAACCCTGGGCTCAGGAGCCCCTCCTGCCCGAGGATCAAGAA
CCTGAGGTGGCTGAAGATGGGGAGAGTTGGCTGTCACGCTTTTCCTATGCCTGGCTGGCACCCTTGCTGGCCCGTGGGGCCTGTGGAGAGCTCCGGCAGCCTCAG
GACATTTGCCGCCTCCCCCACAGACTGCAGCCAACCTACCTGGCTCGTGTCTTCCAGGCACACTGGCAGGAGGGGGCACGGCTGTGGAGGGCCTTGTATGGGGCC
TTTGGACGGTGCTATCTGGCACTTGGACTGCTGAAGCTGGTGGGGACCATGTTGGGATTCTCAGGGCCCCTGTTGCTCTCCCTACTGGTGGGCTTCCTGGAAGAG
GGGCAGGAGCCACTAAGCCACGGCCTGCTCTATGCTCTGGGGCTAGCCGGTGGGGCTGTGCTGGGTGCTGTGCTGCAGAATCAGTATGGGTATGAGGTATATAAG
GTAACACTTCAGGCACGGGGGGCTGTGCTGAACATCCTGTACTGCAAGGCTTTACAGCTGGGGCCCAGCCGCCCTCCTACTGGGGAGGCCCTGAACCTACTAGGC
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ATGGAACGACTTCTGGCCCAGCTGTGCGGCAGCAGCGCAGCGTGGCCGCTCCCGCTGTGGGAGGGGGACACCACAGGCCACTGCTTCACCCAGCTGGTGCTCAGC
GCCCTGCCCCACGCGCTCCTCGCCGTGCTCAGTGCCTGTTACTTGGGCACCCCGAGGAGTCCAGATTACATCCTACCCTGCAGTCCTGGATGGCGCCTCCGACTT
GCAGCTTCCTTCCTGCTTTCCGTCTTCCCGCTGCTAGACCTTCTTCCAGTTGCTTTGCCACCAGGGGCAGGCCCAGGACCCATAGGGCTAGAGGTGTTGGCAGGG
TGCGTGGCAGCTGTGGCCTGGATCAGCCACAGCCTGGCCCTGTGGGTGTTGGCACATTCCCCTCATGGCCACTCCCGGGGTCCCTTGGCCTTGGCCCTGGTAGCC
TTGCTGCCAGCTCCAGCCCTAGTGCTGACCGTGTTGTGGCATTGCCAGCGAGGCACACTTCTGCCCCCACTTCTCCCAGGGCCCATGGCCCGCCTATGCTTGCTC
ATCCTGCAGCTGGCTGCACTCTTGGCCTATGCACTGGGATGGGCAGCTCCTGGGGGACCACGAGAACCCTGGGCTCAGGAGCCCCTCCTGCCCGAGGATCAAGAA
CCTGAGGTGGCTGAAGATGGGGAGAGTTGGCTGTCACGCTTTTCCTATGCCTGGCTGGCACCCTTGCTGGCCCGTGGGGCCTGTGGAGAGCTCCGGCAGCCTCAG
GACATTTGCCGCCTCCCCCACAGACTGCAGCCAACCTACCTGGCTCGTGTCTTCCAGGCACACTGGCAGGAGGGGGCACGGCTGTGGAGGGCCTTGTATGGGGCC
TTTGGACGGTGCTATCTGGCACTTGGACTGCTGAAGCTGGTGGGGACCATGTTGGGATTCTCAGGGCCCCTGTTGCTCTCCCTACTGGTGGGCTTCCTGGAAGAG
GGGCAGGAGCCACTAAGCCACGGCCTGCTCTATGCTCTGGGGCTAGCCGGTGGGGCTGTGCTGGGTGCTGTGCTGCAGAATCAGTATGGGTATGAGGTATATAAG
GTAACACTTCAGGCACGGGGGGCTGTGCTGAACATCCTGTACTGCAAGGCTTTACAGCTGGGGCCCAGCCGCCCTCCTACTGGGGAGGCCCTGAACCTACTAGGC
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>ABCC10|89845|protein
MERLLAQLCGSSAAWPLPLWEGDTTGHCFTQLVLSALPHALLAVLSACYLGTPRSPDYILPCSPGWRLRLAASFLLSVFPLLDLLPVALPPGAGPGPIGLEVLAG
CVAAVAWISHSLALWVLAHSPHGHSRGPLALALVALLPAPALVLTVLWHCQRGTLLPPLLPGPMARLCLLILQLAALLAYALGWAAPGGPREPWAQEPLLPEDQE
PEVAEDGESWLSRFSYAWLAPLLARGACGELRQPQDICRLPHRLQPTYLARVFQAHWQEGARLWRALYGAFGRCYLALGLLKLVGTMLGFSGPLLLSLLVGFLEE
GQEPLSHGLLYALGLAGGAVLGAVLQNQYGYEVYKVTLQARGAVLNILYCKALQLGPSRPPTGEALNLLGTDSERLLNFAGSFHEAWGLPLQLAITLYLLYQQVG
VAFVGGLILALLLVPVNKVIATRIMASNQEMLQHKDARVKLVTELLSGIRVIKFCGWEQALGARVEACRARELGRLRVIKYLDAACVYLWAALPVVISIVIFITY
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MERLLAQLCGSSAAWPLPLWEGDTTGHCFTQLVLSALPHALLAVLSACYLGTPRSPDYILPCSPGWRLRLAASFLLSVFPLLDLLPVALPPGAGPGPIGLEVLAG
CVAAVAWISHSLALWVLAHSPHGHSRGPLALALVALLPAPALVLTVLWHCQRGTLLPPLLPGPMARLCLLILQLAALLAYALGWAAPGGPREPWAQEPLLPEDQE
PEVAEDGESWLSRFSYAWLAPLLARGACGELRQPQDICRLPHRLQPTYLARVFQAHWQEGARLWRALYGAFGRCYLALGLLKLVGTMLGFSGPLLLSLLVGFLEE
GQEPLSHGLLYALGLAGGAVLGAVLQNQYGYEVYKVTLQARGAVLNILYCKALQLGPSRPPTGEALNLLGTDSERLLNFAGSFHEAWGLPLQLAITLYLLYQQVG
VAFVGGLILALLLVPVNKVIATRIMASNQEMLQHKDARVKLVTELLSGIRVIKFCGWEQALGARVEACRARELGRLRVIKYLDAACVYLWAALPVVISIVIFITY
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (2) |
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) |
|||||
| MIXED/OTHERS | ||||||||||||
| Anney RJL, 2017_3 | replication | 1369 (-) |  | | ASD | - - |
- | 137308 (-) |
- - | |||
CNV 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 TopNGS Mosaic SNV Studies TopNGS Other Studies Top 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.