Evidence Details for AMPH
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>AMPH|273|nucleotide
ATGGCCGACATCAAGACGGGCATCTTCGCCAAGAACGTCCAGAAGCGACTCAACCGCGCGCAGGAAAAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAA
GACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGCAGAGGGTACCAGACTTCAGCGAGAACTCCGAGGATATTTAGCAGCAATCAAAGGCATG
CAGGAGGCCTCCATGAAGCTCACAGAGTCGCTGCATGAAGTCTATGAGCCTGACTGGTATGGGCGGGAAGATGTGAAAATGGTTGGTGAGAAATGTGATGTGCTG
TGGGAAGACTTCCATCAAAAACTCGTGGATGGGTCCTTGCTAACACTGGATACCTACCTGGGGCAATTTCCTGACATAAAGAATCGCATCGCCAAGCGCAGCAGG
AAGCTAGTGGACTATGACAGTGCCCGCCACCATCTGGAAGCTCTGCAGAGCTCCAAGAGGAAGGATGAGAGTCGAATCTCTAAGGCAGAAGAAGAATTTCAGAAA
GCACAGAAAGTGTTTGAAGAGTTTAACGTTGACTTACAAGAAGAGTTACCATCATTATGGTCAAGACGAGTTGGATTTTATGTTAATACTTTCAAAAACGTCTCC
AGCCTTGAAGCCAAGTTTCATAAGGAAATTGCGGTGCTTTGCCACAAACTGTATGAAGTGATGACAAAACTGGGTGACCAGCACGCCGACAAGGCCTTCACCATC
CAAGGAGCGCCCAGTGATTCGGGTCCTCTCCGCATTGCAAAGACACCATCACCGCCTGAGGAGCCTTCACCCCTCCCGAGCCCGACAGCAAGTCCAAATCATACA
TTAGCACCTGCGTCTCCCGCACCAGCACGGCCTCGGTCACCTTCACAGACAAGGAAAGGGCCTCCTGTCCCACCTCTACCTAAAGTCACCCCGACAAAGGAACTG
CAGCAGGAGAACATCATCAGTTTCTTTGAGGACAACTTTGTTCCAGAAATCAGTGTGACAACACCTTCCCAGAATGAAGTCCCTGAGGTGAAGAAAGAGGAGACT
TTGCTGGATCTGGACTTTGATCCTTTCAAGCCCGAGGTGACACCTGCAGGTTCTGCTGGAGTGACCCACTCACCCATGTCTCAGACATTGCCCTGGGACCTATGG
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ATGGCCGACATCAAGACGGGCATCTTCGCCAAGAACGTCCAGAAGCGACTCAACCGCGCGCAGGAAAAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAA
GACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGCAGAGGGTACCAGACTTCAGCGAGAACTCCGAGGATATTTAGCAGCAATCAAAGGCATG
CAGGAGGCCTCCATGAAGCTCACAGAGTCGCTGCATGAAGTCTATGAGCCTGACTGGTATGGGCGGGAAGATGTGAAAATGGTTGGTGAGAAATGTGATGTGCTG
TGGGAAGACTTCCATCAAAAACTCGTGGATGGGTCCTTGCTAACACTGGATACCTACCTGGGGCAATTTCCTGACATAAAGAATCGCATCGCCAAGCGCAGCAGG
AAGCTAGTGGACTATGACAGTGCCCGCCACCATCTGGAAGCTCTGCAGAGCTCCAAGAGGAAGGATGAGAGTCGAATCTCTAAGGCAGAAGAAGAATTTCAGAAA
GCACAGAAAGTGTTTGAAGAGTTTAACGTTGACTTACAAGAAGAGTTACCATCATTATGGTCAAGACGAGTTGGATTTTATGTTAATACTTTCAAAAACGTCTCC
AGCCTTGAAGCCAAGTTTCATAAGGAAATTGCGGTGCTTTGCCACAAACTGTATGAAGTGATGACAAAACTGGGTGACCAGCACGCCGACAAGGCCTTCACCATC
CAAGGAGCGCCCAGTGATTCGGGTCCTCTCCGCATTGCAAAGACACCATCACCGCCTGAGGAGCCTTCACCCCTCCCGAGCCCGACAGCAAGTCCAAATCATACA
TTAGCACCTGCGTCTCCCGCACCAGCACGGCCTCGGTCACCTTCACAGACAAGGAAAGGGCCTCCTGTCCCACCTCTACCTAAAGTCACCCCGACAAAGGAACTG
CAGCAGGAGAACATCATCAGTTTCTTTGAGGACAACTTTGTTCCAGAAATCAGTGTGACAACACCTTCCCAGAATGAAGTCCCTGAGGTGAAGAAAGAGGAGACT
TTGCTGGATCTGGACTTTGATCCTTTCAAGCCCGAGGTGACACCTGCAGGTTCTGCTGGAGTGACCCACTCACCCATGTCTCAGACATTGCCCTGGGACCTATGG
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>AMPH|273|protein
MADIKTGIFAKNVQKRLNRAQEKVLQKLGKADETKDEQFEEYVQNFKRQEAEGTRLQRELRGYLAAIKGMQEASMKLTESLHEVYEPDWYGREDVKMVGEKCDVL
WEDFHQKLVDGSLLTLDTYLGQFPDIKNRIAKRSRKLVDYDSARHHLEALQSSKRKDESRISKAEEEFQKAQKVFEEFNVDLQEELPSLWSRRVGFYVNTFKNVS
SLEAKFHKEIAVLCHKLYEVMTKLGDQHADKAFTIQGAPSDSGPLRIAKTPSPPEEPSPLPSPTASPNHTLAPASPAPARPRSPSQTRKGPPVPPLPKVTPTKEL
QQENIISFFEDNFVPEISVTTPSQNEVPEVKKEETLLDLDFDPFKPEVTPAGSAGVTHSPMSQTLPWDLWTTSTDLVQPASGGSFNGFTQPQDTSLFTMQTDQSM
ICNLAESEQAPPTEPKAEEPLAAVTPAVGLDLGMDTRAEEPVEEAVIIPGADADAAVGTLVSAAEGAPGEEAEAEKATVPAGEGVSLEEAKIGTETTEGAESAQP
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MADIKTGIFAKNVQKRLNRAQEKVLQKLGKADETKDEQFEEYVQNFKRQEAEGTRLQRELRGYLAAIKGMQEASMKLTESLHEVYEPDWYGREDVKMVGEKCDVL
WEDFHQKLVDGSLLTLDTYLGQFPDIKNRIAKRSRKLVDYDSARHHLEALQSSKRKDESRISKAEEEFQKAQKVFEEFNVDLQEELPSLWSRRVGFYVNTFKNVS
SLEAKFHKEIAVLCHKLYEVMTKLGDQHADKAFTIQGAPSDSGPLRIAKTPSPPEEPSPLPSPTASPNHTLAPASPAPARPRSPSQTRKGPPVPPLPKVTPTKEL
QQENIISFFEDNFVPEISVTTPSQNEVPEVKKEETLLDLDFDPFKPEVTPAGSAGVTHSPMSQTLPWDLWTTSTDLVQPASGGSFNGFTQPQDTSLFTMQTDQSM
ICNLAESEQAPPTEPKAEEPLAAVTPAVGLDLGMDTRAEEPVEEAVIIPGADADAAVGTLVSAAEGAPGEEAEAEKATVPAGEGVSLEEAKIGTETTEGAESAQP
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Evidence summary TopClick 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 TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| 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 | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #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 | ||||||
| Wolpert, 2001 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen | | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.668795 | Down | 0.239001 | |
| ||||||||||||
| Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | | | - | autism | 6 (0.00%) |
0.739336 | Down | 0.200326 | |
| ||||||||||||
Proteomics Studies:0
| 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 |
|---|---|---|---|---|
| Hashimoto R, 2016 | 30 | - | 38 | Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.