Evidence Details for KIAA0556

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Basic Information Top

Gene Symbol:	KIAA0556 ( - )
Gene Full Name:	KIAA0556
Band:	16p12.1
Quick Links	Entrez ID:23247; OMIM: NA; Uniprot ID:K0556_HUMAN; ENSEMBL ID: ENSG00000047578; HGNC ID: 29068
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>KIAA0556|23247|nucleotide
ATGGACGGTCAGACTCTGCGAAAGGCCGAGAGAAGCTGGTCCTGCTCACGAGAGAAAAAGGAGGGTTACGCTAAGGACATGGTGACAGACTTTGATGAGAAACAT
GATGAGTATTTAATATTGCTTCAGCAGAGGAACCGGATATTAAAGCATTTGAAAAGCAAGGACCCCGTGCAATTGAGGCTGGAGCACTTGGAGCAAGGTTTCTCT
GTCTATGTCAACGGTGCCAATTCGGAGCTGAAATCATCACCGCGGAAAGCTATTCACTCTGACTTCTCCAGAAGTGCCTCCCACACGGAGGGGACACACGATTAT
GGACGAAGAACTCTGTTTCGAGAAGCTGAAGAAGCCTTAAGACGCAGTTCACGGACAGCCCCCAGTAAAGTCCAGCGCCGAGGATGGCACCAGAAATCTGTGCAG
ATCAGAACAGAAGCTGGCCCACGGCTCCACATCGAACCTCCTGTGGACTATTCTGATGATTTTGAGCTGTGTGGGGATGTGACTCTCCAGGCAAACAACACTTCT
GAGGATCGTCCGCAGGAGCTGAGAAGAAGCCTGGAACTTAGTGTAAATCTACAAAGGAAACAAAAGGATTGTTCCAGCGATGAGTATGACTCTATTGAGGAAGAC
ATACTCTCTGAGCCTGAGCCAGAGGACCCGGCACTGGTGGGCCATCCCAGACATGACCGCCCTCCTTCCAGTGGCGACTGGACTCAGAAAGATGTTCACGGGGAA
CAGGAGACAGAAGGACGCTCTTCTCCAGGCCCAGACACCCTCGTGGTGCTGGAATTTAACCCAGCTTCCAAAAGTCATAAAAGGGAAAGGAATTTGTCTGCAAAG
CGGAAGGACAATGCTGAGGTTTTCGTTCCCACCAAACCTGAGCCAAACCTGACTCCCCAAGCTCCTGCTGTATTCCCAGACCAGGAGAGGATGTGCTCCAGACCT
GGAAGCCGGCGAGAGAGACCCCTGTCTGCAACCCGCAAAACTCTTTGCGAGGCTGAGTACCCAGAGGAAGATGCCTCTGCTGTGCTCCAAGCCATCCAGGTGGAG
AACGCAGCCCTGCAGAGGGCGCTCCTCAGCAGAAAGGCCGAGCAGCCAGCCAGCCCACTGCAGGATGCAGAAGGACCACCAGCAAAACCATGGACCAGTCTGCTG
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>KIAA0556|23247|protein
MDGQTLRKAERSWSCSREKKEGYAKDMVTDFDEKHDEYLILLQQRNRILKHLKSKDPVQLRLEHLEQGFSVYVNGANSELKSSPRKAIHSDFSRSASHTEGTHDY
GRRTLFREAEEALRRSSRTAPSKVQRRGWHQKSVQIRTEAGPRLHIEPPVDYSDDFELCGDVTLQANNTSEDRPQELRRSLELSVNLQRKQKDCSSDEYDSIEED
ILSEPEPEDPALVGHPRHDRPPSSGDWTQKDVHGEQETEGRSSPGPDTLVVLEFNPASKSHKRERNLSAKRKDNAEVFVPTKPEPNLTPQAPAVFPDQERMCSRP
GSRRERPLSATRKTLCEAEYPEEDASAVLQAIQVENAALQRALLSRKAEQPASPLQDAEGPPAKPWTSLLEEKEETLELLPITTATTTQEPAGAAGGARAINQAM
DRIGLLGSRQQQKLLKVLQAVESDSAHLGRVVSPTKEQVSDTEDKQRMRADEIKDAIYVTMEILSNWGNSWWVGLTEVEFFDLNDTKLYVSPHDVDIRNTATPGE
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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)	2 (4)	0 (0)	0 (0)	0 (0)	0 (1)	0 (0)	0 (0)	0 (0)	4 (5)

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
Finelli, 2004	-	FISH			autistic feature	-	-	-	-	2	-	2
Weiss, 2008	USA, Ireland	aCGH, SNP microarray			ASD	751	-	-	-	2252	23502	25754
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Zwaag, 2009	-	SNP microarray			autism	-	-	-	-	105	267	372

Linkage Studies Top

AutismKB 2.0

Evidence Details for KIAA0556