Evidence Details for SAMM50
Basic Information Top
| Gene Symbol: | SAMM50 ( FLJ35825,FLJ42905,FLJ99036,OMP85,SAM50,TOB55,TRG-3,YNL026W ) |
|---|---|
| Gene Full Name: | sorting and assembly machinery component 50 homolog (S. cerevisiae) |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:25813; OMIM: 612058; Uniprot ID:SAM50_HUMAN; ENSEMBL ID: ENSG00000100347; HGNC ID: 24276 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SAMM50|25813|nucleotide
ATGGGGACTGTGCACGCCCGGAGTTTGGAGCCTCTTCCATCAAGTGGACCTGATTTTGGAGGATTAGGAGAAGAAGCTGAATTTGTTGAAGTTGAGCCTGAAGCT
AAACAGGAAATTCTTGAAAACAAAGATGTGGTTGTTCAACATGTTCATTTTGATGGACTTGGAAGGACTAAAGATGATATCATCATTTGTGAAATTGGAGATGTT
TTCAAGGCCAAAAACCTAATTGAGGTAATGCGGAAATCTCATGAAGCCCGTGAAAAATTGCTCCGTCTTGGAATTTTTAGACAAGTGGATGTTTTGATTGACACA
TGTCAAGGTGATGACGCACTTCCAAATGGGTTAGACGTTACCTTTGAAGTAACTGAATTGAGGAGATTAACGGGCAGTTATAACACCATGGTTGGAAACAATGAA
GGCAGTATGGTACTTGGCCTCAAGCTTCCTAATCTTCTTGGTCGTGCAGAAAAGGTGACCTTTCAGTTTTCCTATGGAACAAAAGAAACTTCGTATGGCCTGTCC
TTCTTCAAACCACGGCCCGGAAACTTCGAAAGAAATTTCTCTGTAAACTTATATAAAGTTACTGGACAGTTCCCTTGGAGCTCACTGCGGGAGACGGACAGAGGA
ATGTCAGCTGAGTACAGTTTTCCCATATGGAAGACCAGCCACACTGTCAAGTGGGAAGGCGTATGGCGAGAACTGGGCTGCCTCTCAAGGACGGCGTCATTTGCT
GTTCGAAAAGAAAGCGGACATTCACTGAAATCATCTCTTTCGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAA
GTTAACCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTTTTTTCA
GCGTCTTTCTGGGGCGGAATGTTGGTACCCATTGGTGATAAGCCGTCAAGCATTGCTGATAGGTTTTACCTTGGGGGACCCACAAGCATCCGCGGATTCAGCATG
CACAGCATCGGGCCACAGAGCGAAGGAGACTACCTAGGTGGAGAAGCGTACTGGGCCGGCGGCCTGCACCTCTACACCCCATTACCTTTCCGGCCAGGCCAGGGT
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ATGGGGACTGTGCACGCCCGGAGTTTGGAGCCTCTTCCATCAAGTGGACCTGATTTTGGAGGATTAGGAGAAGAAGCTGAATTTGTTGAAGTTGAGCCTGAAGCT
AAACAGGAAATTCTTGAAAACAAAGATGTGGTTGTTCAACATGTTCATTTTGATGGACTTGGAAGGACTAAAGATGATATCATCATTTGTGAAATTGGAGATGTT
TTCAAGGCCAAAAACCTAATTGAGGTAATGCGGAAATCTCATGAAGCCCGTGAAAAATTGCTCCGTCTTGGAATTTTTAGACAAGTGGATGTTTTGATTGACACA
TGTCAAGGTGATGACGCACTTCCAAATGGGTTAGACGTTACCTTTGAAGTAACTGAATTGAGGAGATTAACGGGCAGTTATAACACCATGGTTGGAAACAATGAA
GGCAGTATGGTACTTGGCCTCAAGCTTCCTAATCTTCTTGGTCGTGCAGAAAAGGTGACCTTTCAGTTTTCCTATGGAACAAAAGAAACTTCGTATGGCCTGTCC
TTCTTCAAACCACGGCCCGGAAACTTCGAAAGAAATTTCTCTGTAAACTTATATAAAGTTACTGGACAGTTCCCTTGGAGCTCACTGCGGGAGACGGACAGAGGA
ATGTCAGCTGAGTACAGTTTTCCCATATGGAAGACCAGCCACACTGTCAAGTGGGAAGGCGTATGGCGAGAACTGGGCTGCCTCTCAAGGACGGCGTCATTTGCT
GTTCGAAAAGAAAGCGGACATTCACTGAAATCATCTCTTTCGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAA
GTTAACCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTTTTTTCA
GCGTCTTTCTGGGGCGGAATGTTGGTACCCATTGGTGATAAGCCGTCAAGCATTGCTGATAGGTTTTACCTTGGGGGACCCACAAGCATCCGCGGATTCAGCATG
CACAGCATCGGGCCACAGAGCGAAGGAGACTACCTAGGTGGAGAAGCGTACTGGGCCGGCGGCCTGCACCTCTACACCCCATTACCTTTCCGGCCAGGCCAGGGT
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>SAMM50|25813|protein
MGTVHARSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKDVVVQHVHFDGLGRTKDDIIICEIGDVFKAKNLIEVMRKSHEAREKLLRLGIFRQVDVLIDT
CQGDDALPNGLDVTFEVTELRRLTGSYNTMVGNNEGSMVLGLKLPNLLGRAEKVTFQFSYGTKETSYGLSFFKPRPGNFERNFSVNLYKVTGQFPWSSLRETDRG
MSAEYSFPIWKTSHTVKWEGVWRELGCLSRTASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRGALLKVNQELAGYTGGDVSFIKEDFELQLNKQLIFDSVFS
ASFWGGMLVPIGDKPSSIADRFYLGGPTSIRGFSMHSIGPQSEGDYLGGEAYWAGGLHLYTPLPFRPGQGGFGELFRTHFFLNAGNLCNLNYGEGPKAHIRKLAE
CIRWSYGAGIVLRLGNIARLELNYCVPMGVQTGDRICDGVQFGAGIRFL
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MGTVHARSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKDVVVQHVHFDGLGRTKDDIIICEIGDVFKAKNLIEVMRKSHEAREKLLRLGIFRQVDVLIDT
CQGDDALPNGLDVTFEVTELRRLTGSYNTMVGNNEGSMVLGLKLPNLLGRAEKVTFQFSYGTKETSYGLSFFKPRPGNFERNFSVNLYKVTGQFPWSSLRETDRG
MSAEYSFPIWKTSHTVKWEGVWRELGCLSRTASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRGALLKVNQELAGYTGGDVSFIKEDFELQLNKQLIFDSVFS
ASFWGGMLVPIGDKPSSIADRFYLGGPTSIRGFSMHSIGPQSEGDYLGGEAYWAGGLHLYTPLPFRPGQGGFGELFRTHFFLNAGNLCNLNYGEGPKAHIRKLAE
CIRWSYGAGIVLRLGNIARLELNYCVPMGVQTGDRICDGVQFGAGIRFL
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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 (0) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Goizet, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Prasad, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to 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.