Evidence Details for HERC2

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Basic Information Top

Gene Symbol:	HERC2 ( D15F37S1,DKFZp547P028,KIAA0393,SHEP1,jdf2,p528 )
Gene Full Name:	hect domain and RLD 2
Band:	15q13.1
Quick Links	Entrez ID:8924; OMIM: 605837; Uniprot ID:HERC2_HUMAN; ENSEMBL ID: ENSG00000128731; HGNC ID: 4868
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>HERC2|8924|nucleotide
ATGCCCTCTGAATCTTTCTGTTTGGCTGCCCAGGCTCGCCTCGACTCCAAATGGTTGAAAACAGATATACAGCTTGCATTCACAAGAGATGGGCTCTGTGGTCTG
TGGAATGAAATGGTTAAAGATGGAGAAATTGTATACACTGGAACAGAATCAACCCAGAACGGAGAGCTCCCTCCTAGAAAAGATGATAGTGTCGAACCAAGTGGA
ACAAAGAAAGAAGATCTGAATGACAAAGAGAAAAAAGATGAAGAAGAAACTCCTGCACCTATATATAGGGCCAAGTCAATTCTGGACAGCTGGGTATGGGGCAAG
CAACCAGATGTGAATGAACTGAAGGAGTGTCTTTCTGTGCTGGTTAAAGAGCAGCAGGCCCTGGCCGTCCAGTCAGCCACCACCACCCTCTCAGCCCTGCGACTC
AAGCAGAGGCTGGTGATCTTGGAGCGCTATTTCATTGCCTTGAATAGAACCGTTTTTCAGGAGAATGTCAAAGTTAAGTGGAAAAGCAGCGGTATTTCTCTGCCT
CCTGTGGACAAAAAAAGTTCCCGGCCTGCGGGCAAAGGTGTGGAGGGGCTCGCCAGAGTGGGATCCCGAGCGGCGCTGTCTTTTGCCTTTGCCTTCCTGCGCAGG
GCCTGGCGATCAGGCGAGGATGCGGACCTCTGCAGTGAGCTGTTGCAGGAGTCCCTGGACGCCCTGCGAGCACTTCCCGAGGCCTCGCTCTTTGACGAGAGCACC
GTGTCCTCTGTGTGGCTGGAGGTGGTGGAGAGAGCGACCAGGTTCCTCAGGTCCGTCGTGACGGGGGATGTTCACGGAACGCCAGCCACCAAAGGGCCAGGAAGC
ATCCCCCTGCAGGACCAGCACTTGGCCCTGGCCATCCTGCTGGAGCTGGCTGTGCAGAGAGGCACGCTGAGCCAAATGTTGTCTGCCATCCTGTTGTTGCTTCAG
CTGTGGGACAGCGGGGCACAGGAGACTGACAATGAGCGTTCCGCCCAGGGCACCAGCGCCCCACTTTTGCCCTTGCTGCAAAGGTTCCAGAGCATCATTTGCAGG
AAGGATGCACCCCACTCCGAGGGCGACATGCACCTTTTGTCTGGCCCTCTGAGCCCCAATGAGAGTTTCCTGAGGTACCTCACCCTTCCACAAGACAACGAGCTT
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>HERC2|8924|protein
MPSESFCLAAQARLDSKWLKTDIQLAFTRDGLCGLWNEMVKDGEIVYTGTESTQNGELPPRKDDSVEPSGTKKEDLNDKEKKDEEETPAPIYRAKSILDSWVWGK
QPDVNELKECLSVLVKEQQALAVQSATTTLSALRLKQRLVILERYFIALNRTVFQENVKVKWKSSGISLPPVDKKSSRPAGKGVEGLARVGSRAALSFAFAFLRR
AWRSGEDADLCSELLQESLDALRALPEASLFDESTVSSVWLEVVERATRFLRSVVTGDVHGTPATKGPGSIPLQDQHLALAILLELAVQRGTLSQMLSAILLLLQ
LWDSGAQETDNERSAQGTSAPLLPLLQRFQSIICRKDAPHSEGDMHLLSGPLSPNESFLRYLTLPQDNELAIDLRQTAVVVMAHLDRLATPCMPPLCSSPTSHKG
SLQEVIGWGLIGWKYYANVIGPIQCEGLANLGVTQIACAEKRFLILSRNGRVYTQAYNSDTLAPQLVQGLASRNIVKIAAHSDGHHYLALAATGEVYSWGCGDGG
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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)	3 (21)	1 (1)	0 (0)	0 (0)	0 (2)	0 (0)	0 (0)	0 (0)	8 (24)

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
Wolpert, 2000	-	STS mapping			autism	3	-	3	-	3	-	3
Wassink, 2001	USA	Chromosomal analysis of G-band			autism	-	-	-	-	278	-	278
Silva, 2002	-	FISH			autism	-	-	-	-	1	-	1
Keller, 2003	USA	FISH			ASD	-	-	-	-	2	-	2
Mann, 2004	-	STS mapping			PDD-NOS	-	-	-	-	2	-	2
Bolton, 2004	UK	STS mapping			ASD	-	-	-	-	181	40	221
Sahoo, 2005	USA	aCGH			autism	-	-	-	-	9	-	9
Jacquemont, 2006	France	aCGH			ASD	-	-	-	-	29	-	29
Kwasnicka-Crawford, 2007	-	STS mapping			autism	-	-	-	-	1	-	1
Wassink, 2007	USA	FISH			PDD	-	-	-	-	104	-	104
Sebat, 2007	USA	aCGH			autism	165	118	47	99	195	196	391
Christian, 2008	USA	aCGH			ASD	397	35	362	-	397	372	769
Weiss, 2008	USA, Ireland	aCGH, SNP microarray			ASD	751	-	-	-	2252	23502	25754
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Gregory, 2009	USA	aCGH			ASD	-	-	-	-	119	54	173
Bremer, 2009	-	aCGH			ASD	-	-	-	-	148	-	148
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	-	-	-	-	-
Hadley D, 2014	-	GWAS			ASD	-	-	-	-	6742	12544	19286
Krumm N, 2015	-	-	-	-	-	1266	-	-	-	-	-	-

Linkage 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
Allen-Brady, 2010	USA	SNP-based genomic screen			ASD	40	-	40	-	192	461	653

Low Scale Association Studies (by Ethnic Group) Top

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

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 Top

Reference	Source	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
De Rubeis S, 2014	2270	-	1702	Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014	2508	-	1194	The contribution of de novo coding mutations to autism spectrum disorder.

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
No matched NGS Other Studies!

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

Contact 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.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for HERC2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics