Evidence Details for ABCC10

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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

Nucleotide Sequence
Protein Sequence

>ABCC10|89845|nucleotide
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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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 (1)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	6 (2)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 0

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

Case Control Based Association Studies: 1

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
MIXED/OTHERS
Anney RJL, 2017_3	replication		1369 (-)			ASD	- -	-	137308 (-)	- -

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
Berkel, 2010	Canada	SNP microarray			ASD	-	-	-	-	396	5023	5419

Linkage Studies Top

AutismKB 2.0

Evidence Details for ABCC10