Evidence Details for ABCC1
Basic Information Top
| Gene Symbol: | ABCC1 ( ABC29,ABCC,DKFZp686N04233,DKFZp781G125,GS-X,MRP,MRP1 ) |
|---|---|
| Gene Full Name: | ATP-binding cassette, sub-family C (CFTR/MRP), member 1 |
| Band: | 16p13.11 |
| Quick Links | Entrez ID:4363; OMIM: 158343; Uniprot ID:MRP1_HUMAN; ENSEMBL ID: ENSG00000103222; HGNC ID: 51 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ABCC1|4363|nucleotide
ATGGCGCTCCGGGGCTTCTGCAGCGCCGATGGCTCCGACCCGCTCTGGGACTGGAATGTCACGTGGAATACCAGCAACCCCGACTTCACCAAGTGCTTTCAGAAC
ACGGTCCTCGTGTGGGTGCCTTGTTTTTACCTCTGGGCCTGTTTCCCCTTCTACTTCCTCTATCTCTCCCGACATGACCGAGGCTACATTCAGATGACACCTCTC
AACAAAACCAAAACTGCCTTGGGATTTTTGCTGTGGATCGTCTGCTGGGCAGACCTCTTCTACTCTTTCTGGGAAAGAAGTCGGGGCATATTCCTGGCCCCAGTG
TTTCTGGTCAGCCCAACTCTCTTGGGCATCACCATGCTGCTTGCTACCTTTTTAATTCAGCTGGAGAGGAGGAAGGGAGTTCAGTCTTCAGGGATCATGCTCACT
TTCTGGCTGGTAGCCCTAGTGTGTGCCCTAGCCATCCTGAGATCCAAAATTATGACAGCCTTAAAAGAGGATGCCCAGGTGGACCTGTTTCGTGACATCACTTTC
TACGTCTACTTTTCCCTCTTACTCATTCAGCTCGTCTTGTCCTGTTTCTCAGATCGCTCACCCCTGTTCTCGGAAACCATCCACGACCCTAATCCCTGCCCAGAG
TCCAGCGCTTCCTTCCTGTCGAGGATCACCTTCTGGTGGATCACAGGGTTGATTGTCCGGGGCTACCGCCAGCCCCTGGAGGGCAGTGACCTCTGGTCCTTAAAC
AAGGAGGACACGTCGGAACAAGTCGTGCCTGTTTTGGTAAAGAACTGGAAGAAGGAATGCGCCAAGACTAGGAAGCAGCCGGTGAAGGTTGTGTACTCCTCCAAG
GATCCTGCCCAGCCGAAAGAGAGTTCCAAGGTGGATGCGAATGAGGAGGTGGAGGCTTTGATCGTCAAGTCCCCACAGAAGGAGTGGAACCCCTCTCTGTTTAAG
GTGTTATACAAGACCTTTGGGCCCTACTTCCTCATGAGCTTCTTCTTCAAGGCCATCCACGACCTGATGATGTTTTCCGGGCCGCAGATCTTAAAGTTGCTCATC
AAGTTCGTGAATGACACGAAGGCCCCAGACTGGCAGGGCTACTTCTACACCGTGCTGCTGTTTGTCACTGCCTGCCTGCAGACCCTCGTGCTGCACCAGTACTTC
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ATGGCGCTCCGGGGCTTCTGCAGCGCCGATGGCTCCGACCCGCTCTGGGACTGGAATGTCACGTGGAATACCAGCAACCCCGACTTCACCAAGTGCTTTCAGAAC
ACGGTCCTCGTGTGGGTGCCTTGTTTTTACCTCTGGGCCTGTTTCCCCTTCTACTTCCTCTATCTCTCCCGACATGACCGAGGCTACATTCAGATGACACCTCTC
AACAAAACCAAAACTGCCTTGGGATTTTTGCTGTGGATCGTCTGCTGGGCAGACCTCTTCTACTCTTTCTGGGAAAGAAGTCGGGGCATATTCCTGGCCCCAGTG
TTTCTGGTCAGCCCAACTCTCTTGGGCATCACCATGCTGCTTGCTACCTTTTTAATTCAGCTGGAGAGGAGGAAGGGAGTTCAGTCTTCAGGGATCATGCTCACT
TTCTGGCTGGTAGCCCTAGTGTGTGCCCTAGCCATCCTGAGATCCAAAATTATGACAGCCTTAAAAGAGGATGCCCAGGTGGACCTGTTTCGTGACATCACTTTC
TACGTCTACTTTTCCCTCTTACTCATTCAGCTCGTCTTGTCCTGTTTCTCAGATCGCTCACCCCTGTTCTCGGAAACCATCCACGACCCTAATCCCTGCCCAGAG
TCCAGCGCTTCCTTCCTGTCGAGGATCACCTTCTGGTGGATCACAGGGTTGATTGTCCGGGGCTACCGCCAGCCCCTGGAGGGCAGTGACCTCTGGTCCTTAAAC
AAGGAGGACACGTCGGAACAAGTCGTGCCTGTTTTGGTAAAGAACTGGAAGAAGGAATGCGCCAAGACTAGGAAGCAGCCGGTGAAGGTTGTGTACTCCTCCAAG
GATCCTGCCCAGCCGAAAGAGAGTTCCAAGGTGGATGCGAATGAGGAGGTGGAGGCTTTGATCGTCAAGTCCCCACAGAAGGAGTGGAACCCCTCTCTGTTTAAG
GTGTTATACAAGACCTTTGGGCCCTACTTCCTCATGAGCTTCTTCTTCAAGGCCATCCACGACCTGATGATGTTTTCCGGGCCGCAGATCTTAAAGTTGCTCATC
AAGTTCGTGAATGACACGAAGGCCCCAGACTGGCAGGGCTACTTCTACACCGTGCTGCTGTTTGTCACTGCCTGCCTGCAGACCCTCGTGCTGCACCAGTACTTC
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>ABCC1|4363|protein
MALRGFCSADGSDPLWDWNVTWNTSNPDFTKCFQNTVLVWVPCFYLWACFPFYFLYLSRHDRGYIQMTPLNKTKTALGFLLWIVCWADLFYSFWERSRGIFLAPV
FLVSPTLLGITMLLATFLIQLERRKGVQSSGIMLTFWLVALVCALAILRSKIMTALKEDAQVDLFRDITFYVYFSLLLIQLVLSCFSDRSPLFSETIHDPNPCPE
SSASFLSRITFWWITGLIVRGYRQPLEGSDLWSLNKEDTSEQVVPVLVKNWKKECAKTRKQPVKVVYSSKDPAQPKESSKVDANEEVEALIVKSPQKEWNPSLFK
VLYKTFGPYFLMSFFFKAIHDLMMFSGPQILKLLIKFVNDTKAPDWQGYFYTVLLFVTACLQTLVLHQYFHICFVSGMRIKTAVIGAVYRKALVITNSARKSSTV
GEIVNLMSVDAQRFMDLATYINMIWSAPLQVILALYLLWLNLGPSVLAGVAVMVLMVPVNAVMAMKTKTYQVAHMKSKDNRIKLMNEILNGIKVLKLYAWELAFK
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MALRGFCSADGSDPLWDWNVTWNTSNPDFTKCFQNTVLVWVPCFYLWACFPFYFLYLSRHDRGYIQMTPLNKTKTALGFLLWIVCWADLFYSFWERSRGIFLAPV
FLVSPTLLGITMLLATFLIQLERRKGVQSSGIMLTFWLVALVCALAILRSKIMTALKEDAQVDLFRDITFYVYFSLLLIQLVLSCFSDRSPLFSETIHDPNPCPE
SSASFLSRITFWWITGLIVRGYRQPLEGSDLWSLNKEDTSEQVVPVLVKNWKKECAKTRKQPVKVVYSSKDPAQPKESSKVDANEEVEALIVKSPQKEWNPSLFK
VLYKTFGPYFLMSFFFKAIHDLMMFSGPQILKLLIKFVNDTKAPDWQGYFYTVLLFVTACLQTLVLHQYFHICFVSGMRIKTAVIGAVYRKALVITNSARKSSTV
GEIVNLMSVDAQRFMDLATYINMIWSAPLQVILALYLLWLNLGPSVLAGVAVMVLMVPVNAVMAMKTKTYQVAHMKSKDNRIKLMNEILNGIKVLKLYAWELAFK
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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 (8) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 8 (13) |
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 | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | 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 | ||||||
| Ullmann, 2007 | Australia | aCGH | | | autism | - | - | - | - | 70 | - | 70 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Smyk M, 2016 | - | aCGH | - | - | DD;ADHD | - | - | - | - | 1 | - | 1 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | | | autism | 115 | - | 115 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Serajee, 2004_1 | AGRE | a high-throughput single-base primer extension assay with oligonucleotide microarrays and fluorescence detection through Orchid BioSciences' SNPstrealn UHT services | 196 | - (-) | | | ASD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
NGS 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.