Evidence Details for EPB42

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Basic Information Top

Gene Symbol:	EPB42 ( MGC116735,MGC116737,PA,SPH5 )
Gene Full Name:	erythrocyte membrane protein band 4.2
Band:	15q15.2
Quick Links	Entrez ID:2038; OMIM: 177070; Uniprot ID:EPB42_HUMAN; ENSEMBL ID: ENSG00000166947; HGNC ID: 3381
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>EPB42|2038|nucleotide
ATGGGACAGGGTGAGCCAAGCCAGCGCTCGACAGGGCTTGCTGGACTGTATGCAGCCCCCGCAGCATCACCTGTTTTCATTAAAGGAAGTGGGATGGATGCCCTG
GGTATCAAGAGCTGTGACTTTCAGGCAGCAAGAAACAATGAGGAGCACCACACCAAGGCCCTCAGCTCCCGGCGCCTCTTTGTGAGGAGGGGGCAGCCCTTCACC
ATCATCCTGTACTTCCGCGCTCCAGTCCGTGCATTTCTGCCTGCCCTGAAGAAGGTGGCCCTCACTGCACAAACTGGAGAGCAGCCTTCCAAGATCAACAGGACC
CAAGCCACATTCCCAATTTCCAGTCTGGGGGACCGAAAGTGGTGGAGTGCAGTGGTGGAGGAGAGAGATGCCCAGTCCTGGACCATCTCTGTGACCACACCTGCG
GACGCTGTCATTGGCCACTACTCGCTTCTGCTGCAGGTCTCAGGCAGGAAGCAACTCCTCTTGGGTCAGTTCACACTGCTTTTTAACCCCTGGAATAGAGAGGAT
GCTGTGTTCCTGAAGAATGAGGCTCAGCGCATGGAGTACTTGTTGAACCAGAATGGTCTCATCTACCTGGGTACAGCTGACTGCATCCAGGCAGAGTCCTGGGAC
TTTGGCCAGTTCGAGGGGGATGTCATTGACCTCAGCCTGCGCTTGCTGAGCAAGGACAAGCAGGTAGAGAAGTGGAGCCAGCCGGTGCACGTGGCCCGTGTGTTG
GGTGCCTTGCTGCATTTTCTCAAGGAGCAGAGGGTCCTGCCCACCCCGCAGACCCAGGCCACCCAGGAAGGGGCCTTGCTGAACAAGCGCCGGGGCAGCGTGCCC
ATCCTGCGGCAGTGGCTCACCGGCCGAGGCCGACCTGTGTATGATGGCCAGGCCTGGGTGTTGGCTGCTGTTGCTTGCACAGTGCTGCGATGCCTGGGAATCCCT
GCCCGCGTGGTGACCACGTTTGCCTCAGCACAGGGCACCGGTGGGCGTCTTCTCATAGATGAATACTATAATGAGGAGGGACTTCAGAACGGAGAAGGCCAGAGA
GGCAGAATCTGGATCTTCCAGACTTCCACAGAGTGCTGGATGACGCGGCCTGCCTTGCCCCAGGGTTATGATGGATGGCAGATTCTGCACCCAAGTGCTCCTAAT
GGAGGTGGAGTCCTGGGGTCCTGTGATCTGGTGCCGGTCAGAGCAGTCAAGGAGGGGACGCTGGGGCTGACCCCAGCAGTGTCAGACCTTTTTGCTGCCATAAAT
GCCTCATGTGTGGTCTGGAAGTGCTGTGAGGATGGGACACTGGAGTTGACTGACTCCAACACAAAGTATGTTGGCAACAACATCAGCACCAAGGGTGTGGGCAGT
GACCGCTGCGAGGACATCACTCAGAACTACAAGTATCCTGAAGGGTCTCTTCAGGAAAAAGAGGTGCTGGAGAGAGTCGAGAAAGAGAAAATGGAACGTGAGAAA
GACAACGGCATCCGTCCTCCCAGTCTCGAGACTGCCAGTCCTCTGTACCTGCTCTTGAAAGCACCCAGCTCCCTACCCCTGAGAGGGGATGCCCAGATCTCAGTG
ACGCTGGTTAATCACAGTGAGCAGGAGAAGGCAGTGCAGCTGGCAATTGGGGTCCAGGCTGTACACTACAACGGTGTCCTTGCTGCCAAGCTCTGGAGGAAGAAG
CTGCACCTCACGCTCAGTGCCAACCTGGAAAAGATAATAACCATCGGCCTGTTCTTCTCCAATTTTGAGCGAAACCCACCCGAGAACACCTTCCTTAGACTCACC
GCCATGGCAACACACTCTGAATCCAACCTTAGCTGCTTTGCTCAGGAAGACATTGCCATTTGTAGACCACACCTTGCCATCAAGATGCCAGAGAAAGCAGAGCAG
TATCAACCCCTCACAGCCTCAGTCAGCCTCCAGAACTCCCTAGATGCCCCCATGGAGGACTGTGTGATCTCCATCCTGGGAAGGGGGCTCATTCACAGAGAGAGG
AGCTACAGATTCCGTTCAGTGTGGCCTGAAAACACCATGTGTGCCAAGTTCCAGTTCACGCCAACACATGTGGGGCTCCAGAGACTCACTGTGGAAGTGGACTGC
AACATGTTCCAGAACCTAACCAACTATAAAAGCGTCACCGTGGTAGCCCCTGAACTATCAGCTTAA
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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)	0 (0)	1 (1)	0 (0)	0 (0)	0 (1)	0 (0)	0 (0)	0 (0)	2 (2)

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
Total	Simplex	Multiplex	Control	Affected	Control	Total
No matched CNVs !

Linkage Studies Top

AutismKB 2.0

Evidence Details for EPB42