Evidence Details for OBSCN

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Basic Information Top

Gene Symbol:	OBSCN ( ARHGEF30,DKFZp666E245,FLJ14124,KIAA1556,KIAA1639,MGC120409,MGC120410,MGC120411,MGC120412,MGC138590,UNC89 )
Gene Full Name:	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Band:	1q42.13
Quick Links	Entrez ID:84033; OMIM: 608616; Uniprot ID:OBSCN_HUMAN; ENSEMBL ID: ENSG00000154358; HGNC ID: 15719
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>OBSCN|84033|nucleotide
ATGGATCAGCCACAGTTCAGCGGGGCGCCCCGCTTTCTCACCCGGCCCAAGGCCTTCGTGGTGTCGGTGGGCAAGGACGCCACCCTCAGCTGCCAGATCGTGGGT
AATCCCACGCCACAGGTGAGCTGGGAGAAGGACCAGCAGCCGGTGGCGGCCGGCGCGCGCTTCCGTCTGGCCCAGGACGGCGACCTCTACCGCCTCACTATCCTG
GACCTGGCGCTGGGCGACAGTGGGCAATACGTGTGCCGCGCGCGCAATGCCATAGGCGAGGCCTTCGCTGCTGTGGGCCTGCAGGTGGACGCGGAGGCCGCGTGC
GCCGAGCAGGCGCCGCACTTCCTGCTGCGGCCCACGTCCATCCGCGTGCGCGAGGGCTCAGAGGCCACCTTCCGCTGCCGCGTGGGTGGCTCCCCGAGGCCGGCA
GTGAGCTGGTCCAAGGACGGGCGGCGCCTGGGTGAGCCCGACGGCCCCCGCGTGCGCGTGGAGGAGCTCGGCGAGGCAAGTGCGCTGCGCATTCGGGCGGCGCGG
CCGCGCGACGGCGGCACTTACGAGGTCCGCGCCGAGAACCCGCTGGGCGCTGCCAGCGCCGCCGCGGCGCTAGTGGTGGACTCGGACGCCGCGGACACGGCCAGC
CGGCCCGGGACCTCCACGGCCGCGCTCCTGGCGCACCTGCAGCGGCGGCGCGAGGCTATGCGCGCCGAGGGCGCCCCCGCCTCACCGCCCAGCACCGGCACGCGC
ACCTGCACGGTGACTGAAGGCAAGCACGCGCGCCTCAGCTGCTACGTGACCGGCGAGCCCAAGCCCGAGACGGTGTGGAAGAAGGACGGCCAGCTGGTGACCGAG
GGCCGGCGCCACGTGGTGTACGAGGACGCGCAGGAGAACTTCGTGCTCAAGATCCTCTTCTGCAAGCAGTCGGACCGCGGCCTCTACACCTGCACGGCGTCCAAC
CTCGTGGGCCAGACCTACAGCTCTGTGCTGGTCGTAGTGCGCGAGCCCGCGGTTCCCTTCAAAAAGCGGCTGCAAGATCTGGAGGTGCGGGAGAAGGAGTCGGCC
ACGTTCCTATGTGAGGTGCCCCAGCCGTCCACTGAGGCCGCGTGGTTCAAGGAGGAGACGCGGTTGTGGGCGAGCGCCAAGTACGGCATCGAGGAGGAGGGCACC
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>OBSCN|84033|protein
MDQPQFSGAPRFLTRPKAFVVSVGKDATLSCQIVGNPTPQVSWEKDQQPVAAGARFRLAQDGDLYRLTILDLALGDSGQYVCRARNAIGEAFAAVGLQVDAEAAC
AEQAPHFLLRPTSIRVREGSEATFRCRVGGSPRPAVSWSKDGRRLGEPDGPRVRVEELGEASALRIRAARPRDGGTYEVRAENPLGAASAAAALVVDSDAADTAS
RPGTSTAALLAHLQRRREAMRAEGAPASPPSTGTRTCTVTEGKHARLSCYVTGEPKPETVWKKDGQLVTEGRRHVVYEDAQENFVLKILFCKQSDRGLYTCTASN
LVGQTYSSVLVVVREPAVPFKKRLQDLEVREKESATFLCEVPQPSTEAAWFKEETRLWASAKYGIEEEGTERRLTVRNVSADDDAVYICETPEGSRTVAELAVQG
NLLRKLPRKTAVRVGDTAMFCVELAVPVGPVHWLRNQEEVVAGGRVAISAEGTRHTLTISQCCLEDVGQVAFMAGDCQTSTQFCVSAPRKPPLQPPVDPVVKARM
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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	0 (0)	1 (2)	1 (1)	0 (0)	0 (0)	0 (3)	0 (0)	0 (0)	0 (0)	4 (6)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

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

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
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Bucan, 2009	USA	SNP microarray			autism, ASD	912	-	912	-	-	1488	1488
Nord, 2011	US	aCGH	-	-	ASD	-	-	-	-	41	367	408

Linkage Studies Top

AutismKB 2.0

Evidence Details for OBSCN