Evidence Details for AMPH

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Basic Information Top

Gene Symbol:	AMPH ( AMPH1 )
Gene Full Name:	amphiphysin
Band:	7p14.1
Quick Links	Entrez ID:273; OMIM: 600418; Uniprot ID:AMPH_HUMAN; ENSEMBL ID: ENSG00000078053; HGNC ID: 471
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>AMPH|273|nucleotide
ATGGCCGACATCAAGACGGGCATCTTCGCCAAGAACGTCCAGAAGCGACTCAACCGCGCGCAGGAAAAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAA
GACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGCAGAGGGTACCAGACTTCAGCGAGAACTCCGAGGATATTTAGCAGCAATCAAAGGCATG
CAGGAGGCCTCCATGAAGCTCACAGAGTCGCTGCATGAAGTCTATGAGCCTGACTGGTATGGGCGGGAAGATGTGAAAATGGTTGGTGAGAAATGTGATGTGCTG
TGGGAAGACTTCCATCAAAAACTCGTGGATGGGTCCTTGCTAACACTGGATACCTACCTGGGGCAATTTCCTGACATAAAGAATCGCATCGCCAAGCGCAGCAGG
AAGCTAGTGGACTATGACAGTGCCCGCCACCATCTGGAAGCTCTGCAGAGCTCCAAGAGGAAGGATGAGAGTCGAATCTCTAAGGCAGAAGAAGAATTTCAGAAA
GCACAGAAAGTGTTTGAAGAGTTTAACGTTGACTTACAAGAAGAGTTACCATCATTATGGTCAAGACGAGTTGGATTTTATGTTAATACTTTCAAAAACGTCTCC
AGCCTTGAAGCCAAGTTTCATAAGGAAATTGCGGTGCTTTGCCACAAACTGTATGAAGTGATGACAAAACTGGGTGACCAGCACGCCGACAAGGCCTTCACCATC
CAAGGAGCGCCCAGTGATTCGGGTCCTCTCCGCATTGCAAAGACACCATCACCGCCTGAGGAGCCTTCACCCCTCCCGAGCCCGACAGCAAGTCCAAATCATACA
TTAGCACCTGCGTCTCCCGCACCAGCACGGCCTCGGTCACCTTCACAGACAAGGAAAGGGCCTCCTGTCCCACCTCTACCTAAAGTCACCCCGACAAAGGAACTG
CAGCAGGAGAACATCATCAGTTTCTTTGAGGACAACTTTGTTCCAGAAATCAGTGTGACAACACCTTCCCAGAATGAAGTCCCTGAGGTGAAGAAAGAGGAGACT
TTGCTGGATCTGGACTTTGATCCTTTCAAGCCCGAGGTGACACCTGCAGGTTCTGCTGGAGTGACCCACTCACCCATGTCTCAGACATTGCCCTGGGACCTATGG
ACGACAAGCACTGATTTGGTACAGCCGGCTTCTGGTGGTTCATTTAATGGATTCACACAGCCCCAGGATACTTCATTATTCACAATGCAGACAGACCAGAGTATG
ATCTGCAACTTGGCTGAATCTGAACAGGCTCCACCCACAGAGCCAAAAGCAGAGGAGCCTCTGGCTGCTGTCACACCTGCCGTTGGTCTGGACCTTGGAATGGAC
ACTCGGGCTGAGGAGCCAGTGGAGGAGGCAGTGATCATACCTGGAGCTGATGCTGATGCAGCTGTTGGAACCTTGGTGTCAGCAGCTGAGGGGGCCCCAGGAGAG
GAAGCAGAGGCGGAGAAGGCCACTGTCCCTGCCGGGGAAGGAGTAAGTTTAGAGGAGGCCAAAATTGGAACTGAAACCACTGAGGGTGCAGAGAGTGCCCAACCT
GAAGCAGAGGAGCTCGAAGCAACAGTGCCTCAGGAGAAGGTCATTCCTTCGGTGGTCATAGAGCCTGCCTCCAACCATGAAGAGGAAGGAGAAAACGAAATAACT
ATAGGTGCAGAGCCCAAGGAGACCACCGAGGACGCGGCTCCTCCGGGCCCCACCAGCGAGACACCGGAGCTGGCTACGGAGCAGAAGCCTATCCAGGACCCTCAG
CCCACGCCTTCTGCACCAGCCATGGGGGCTGCTGACCAGCTAGCATCTGCAAGGGAGGCCTCTCAGGAATTGCCTCCTGGCTTTCTCTACAAGGTGGAAACACTG
CATGATTTTGAGGCAGCAAATTCTGATGAACTTACCTTACAAAGGGGTGATGTGGTGCTGGTGGTCCCCTCAGATTCAGAAGCTGATCAGGATGCAGGCTGGCTG
GTGGGAGTGAAGGAATCAGACTGGCTTCAGTACAGAGACCTTGCCACCTACAAAGGCCTCTTTCCAGAGAACTTCACCCGACGCTTAGATTAG
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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 (1)	1 (1)	1 (1)	0 (0)	2 (2)	0 (1)	0 (0)	0 (0)	0 (0)	6 (6)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

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
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, 2001	-	FISH			autism	-	-	-	-	1	-	1

Linkage Studies Top

AutismKB 2.0

Evidence Details for AMPH