Evidence Details for ABCC1

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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

Nucleotide Sequence
Protein Sequence

>ABCC1|4363|nucleotide
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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Evidence summary Top

Click 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 Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
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
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Ullmann, 2007	Australia	aCGH			autism	-	-	-	-	70	-	70
Bucan, 2009	USA	SNP microarray			autism, ASD	912	-	912	-	-	1488	1488
Gregory, 2009	USA	aCGH			ASD	-	-	-	-	119	54	173
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Levy, 2011	Simons Simplex Collection	aCGH	-	-	ASD	915	915	-	-	-	-	-
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-
Bremer, 2011	-	aCGH			ASD	-	-	-	-	223	-	223
Smyk M, 2016	-	aCGH	-	-	DD;ADHD	-	-	-	-	1	-	1

Linkage Studies Top

AutismKB 2.0

Evidence Details for ABCC1