Evidence Details for STAMBPL1
Basic Information Top
| Gene Symbol: | STAMBPL1 ( ALMalpha,AMSH-FP,AMSH-LP,FLJ31524,KIAA1373,bA399O19.2 ) |
|---|---|
| Gene Full Name: | STAM binding protein-like 1 |
| Band: | 10q23.31 |
| Quick Links | Entrez ID:57559; OMIM: 612352; Uniprot ID:STALP_HUMAN; ENSEMBL ID: ENSG00000138134; HGNC ID: 24105 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>STAMBPL1|57559|nucleotide
ATGGATCAGCCTTTTACTGTGAATTCTCTGAAAAAGTTAGCTGCTATGCCTGACCATACAGATGTTTCCCTAAGCCCAGAAGAGCGAGTCCGTGCCCTAAGCAAG
CTTGGTTGTAATATCACCATCAGTGAAGACATCACTCCACGACGTTACTTTAGGTCTGGAGTAGAGATGGAGAGGATGGCGTCTGTGTATTTGGAAGAAGGAAAT
TTGGAAAATGCCTTTGTTCTTTATAATAAATTTATAACCTTATTTGTAGAAAAGCTTCCTAACCATCGAGATTACCAGCAATGTGCAGTACCTGAAAAGCAGGAT
ATTATGAAGAAACTGAAGGAGATTGCATTCCCAAGGACAGATGAATTGAAAAACGACCTTTTAAAGAAATATAACGTAGAATACCAAGAATATTTGCAAAGCAAA
AACAAATATAAAGCTGAAATTCTCAAAAAATTGGAGCATCAGAGATTGATAGAGGCAGAAAGGAAGCGGATTGCTCAGATGCGCCAGCAGCAGCTAGAATCGGAG
CAGTTTCTGTTTTTCGAAGATCAACTCAAGAAGCAAGAGTTAGCCCGAGGTCAAATGCGAAGTCAGCAAACCTCAGGGCTGTCAGAGCAGATTGATGGGAGCGCT
TTGTCCTGCTTTTCCACACACCAGAACAATTCCTTGCTGAATGTATTTGCAGATCAACCTAATAAAAGTGATGCAACCAATTATGCTAGCCACTCTCCTCCTGTA
AACAGGGCCTTAACACCAGCTGCTACTCTAAGTGCTGTTCAGAATTTAGTGGTTGAAGGACTGCGATGTGTAGTTTTGCCAGAAGATCTTTGCCACAAATTTCTG
CAACTGGCAGAATCTAATACAGTGAGAGGAATAGAAACCTGTGGAATACTCTGTGGAAAACTGACACATAATGAATTTACTATTACCCATGTAATTGTGCCAAAG
CAGTCTGCGGGACCAGACTATTGTGACATGGAGAATGTAGAGGAATTATTCAATGTTCAGGATCAACATGATCTCCTCACTCTAGGATGGATCCATACACATCCC
ACTCAAACTGCATTTTTATCCAGCGTTGATCTTCACACTCACTGTTCCTATCAACTCATGTTGCCAGAGGCCATTGCCATTGTTTGCTCACCAAAGCATAAAGAC
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ATGGATCAGCCTTTTACTGTGAATTCTCTGAAAAAGTTAGCTGCTATGCCTGACCATACAGATGTTTCCCTAAGCCCAGAAGAGCGAGTCCGTGCCCTAAGCAAG
CTTGGTTGTAATATCACCATCAGTGAAGACATCACTCCACGACGTTACTTTAGGTCTGGAGTAGAGATGGAGAGGATGGCGTCTGTGTATTTGGAAGAAGGAAAT
TTGGAAAATGCCTTTGTTCTTTATAATAAATTTATAACCTTATTTGTAGAAAAGCTTCCTAACCATCGAGATTACCAGCAATGTGCAGTACCTGAAAAGCAGGAT
ATTATGAAGAAACTGAAGGAGATTGCATTCCCAAGGACAGATGAATTGAAAAACGACCTTTTAAAGAAATATAACGTAGAATACCAAGAATATTTGCAAAGCAAA
AACAAATATAAAGCTGAAATTCTCAAAAAATTGGAGCATCAGAGATTGATAGAGGCAGAAAGGAAGCGGATTGCTCAGATGCGCCAGCAGCAGCTAGAATCGGAG
CAGTTTCTGTTTTTCGAAGATCAACTCAAGAAGCAAGAGTTAGCCCGAGGTCAAATGCGAAGTCAGCAAACCTCAGGGCTGTCAGAGCAGATTGATGGGAGCGCT
TTGTCCTGCTTTTCCACACACCAGAACAATTCCTTGCTGAATGTATTTGCAGATCAACCTAATAAAAGTGATGCAACCAATTATGCTAGCCACTCTCCTCCTGTA
AACAGGGCCTTAACACCAGCTGCTACTCTAAGTGCTGTTCAGAATTTAGTGGTTGAAGGACTGCGATGTGTAGTTTTGCCAGAAGATCTTTGCCACAAATTTCTG
CAACTGGCAGAATCTAATACAGTGAGAGGAATAGAAACCTGTGGAATACTCTGTGGAAAACTGACACATAATGAATTTACTATTACCCATGTAATTGTGCCAAAG
CAGTCTGCGGGACCAGACTATTGTGACATGGAGAATGTAGAGGAATTATTCAATGTTCAGGATCAACATGATCTCCTCACTCTAGGATGGATCCATACACATCCC
ACTCAAACTGCATTTTTATCCAGCGTTGATCTTCACACTCACTGTTCCTATCAACTCATGTTGCCAGAGGCCATTGCCATTGTTTGCTCACCAAAGCATAAAGAC
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>STAMBPL1|57559|protein
MDQPFTVNSLKKLAAMPDHTDVSLSPEERVRALSKLGCNITISEDITPRRYFRSGVEMERMASVYLEEGNLENAFVLYNKFITLFVEKLPNHRDYQQCAVPEKQD
IMKKLKEIAFPRTDELKNDLLKKYNVEYQEYLQSKNKYKAEILKKLEHQRLIEAERKRIAQMRQQQLESEQFLFFEDQLKKQELARGQMRSQQTSGLSEQIDGSA
LSCFSTHQNNSLLNVFADQPNKSDATNYASHSPPVNRALTPAATLSAVQNLVVEGLRCVVLPEDLCHKFLQLAESNTVRGIETCGILCGKLTHNEFTITHVIVPK
QSAGPDYCDMENVEELFNVQDQHDLLTLGWIHTHPTQTAFLSSVDLHTHCSYQLMLPEAIAIVCSPKHKDTGIFRLTNAGMLEVSACKKKGFHPHTKEPRLFSIC
KHVLVKDIKIIVLDLR
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MDQPFTVNSLKKLAAMPDHTDVSLSPEERVRALSKLGCNITISEDITPRRYFRSGVEMERMASVYLEEGNLENAFVLYNKFITLFVEKLPNHRDYQQCAVPEKQD
IMKKLKEIAFPRTDELKNDLLKKYNVEYQEYLQSKNKYKAEILKKLEHQRLIEAERKRIAQMRQQQLESEQFLFFEDQLKKQELARGQMRSQQTSGLSEQIDGSA
LSCFSTHQNNSLLNVFADQPNKSDATNYASHSPPVNRALTPAATLSAVQNLVVEGLRCVVLPEDLCHKFLQLAESNTVRGIETCGILCGKLTHNEFTITHVIVPK
QSAGPDYCDMENVEELFNVQDQHDLLTLGWIHTHPTQTAFLSSVDLHTHCSYQLMLPEAIAIVCSPKHKDTGIFRLTNAGMLEVSACKKKGFHPHTKEPRLFSIC
KHVLVKDIKIIVLDLR
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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) | 0 (0) | 1 (1) | 0 (0) | 2 (2) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen |  |  | autism | 115 | - | 115 | - | - | - | - |
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%) |
0.705814 | Down | - | |
| ||||||||||||
| Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | | | - | autism | 6 (0.00%) |
0.660886 | Down | 0.0107119 | |
| ||||||||||||
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 |
|---|---|---|---|---|
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
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.