Evidence Details for SPTBN1
Basic Information Top
| Gene Symbol: | SPTBN1 ( ELF,SPTB2,betaSpII ) |
|---|---|
| Gene Full Name: | spectrin, beta, non-erythrocytic 1 |
| Band: | 2p16.2 |
| Quick Links | Entrez ID:6711; OMIM: 182790; Uniprot ID:SPTB2_HUMAN; ENSEMBL ID: ENSG00000115306; HGNC ID: 11275 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SPTBN1|6711|nucleotide
ATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATGTCGACGACTGGGACAATGAGAACAGC
TCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAGATGAGCGTGAAGCCGTGCAGAAGAAGACCTTCACCAAGTGGGTCAATTCCCACCTTGCCCGT
GTGTCCTGCCGGATCACAGACCTGTACACTGACCTTCGAGATGGACGGATGCTCATCAAGCTGCTGGAGGTCCTCTCTGGAGAGAGGCTGCCTAAACCCACCAAG
GGACGAATGCGCATCCACTGCTTAGAGAATGTGGACAAGGCCCTTCAGTTCCTGAAGGAGCAGAGAGTCCATCTTGAGAACATGGGGTCCCATGACATCGTGGAT
GGAAACCACCGGCTGACCCTTGGCCTCATCTGGACCATCATCCTGCGCTTCCAGATCCAGGATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCC
AAGGATGCATTGCTGTTGTGGTGCCAGATGAAGACAGCTGGGTACCCCAATGTCAACATTCACAATTTCACCACTAGCTGGAGGGACGGCATGGCCTTCAATGCA
CTGATACACAAACACCGGCCTGACCTGATAGATTTTGACAAACTAAAGAAATCTAACGCACACTACAACCTGCAGAATGCATTTAATCTGGCAGAACAGCACCTC
GGCCTCACTAAACTGTTGGACCCCGAAGACATCAGCGTGGACCATCCTGATGAGAAGTCCATAATCACTTATGTGGTGACTTATTACCACTACTTCTCTAAGATG
AAGGCCTTAGCTGTTGAAGGAAAACGAATTGGAAAGGTGCTTGACAATGCTATTGAAACAGAAAAAATGATTGAAAAGTATGAATCACTTGCCTCTGACCTTCTG
GAATGGATTGAACAAACCATCATCATTCTGAACAATCGCAAATTTGCCAATTCACTGGTCGGGGTTCAACAGCAGCTTCAGGCATTCAACACTTACCGCACTGTG
GAGAAACCACCCAAATTTACTGAGAAGGGGAACTTGGAAGTGCTGCTCTTCACCATTCAGAGCAAGATGAGGGCCAACAACCAGAAGGTCTACATGCCCCGGGAG
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ATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATGTCGACGACTGGGACAATGAGAACAGC
TCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAGATGAGCGTGAAGCCGTGCAGAAGAAGACCTTCACCAAGTGGGTCAATTCCCACCTTGCCCGT
GTGTCCTGCCGGATCACAGACCTGTACACTGACCTTCGAGATGGACGGATGCTCATCAAGCTGCTGGAGGTCCTCTCTGGAGAGAGGCTGCCTAAACCCACCAAG
GGACGAATGCGCATCCACTGCTTAGAGAATGTGGACAAGGCCCTTCAGTTCCTGAAGGAGCAGAGAGTCCATCTTGAGAACATGGGGTCCCATGACATCGTGGAT
GGAAACCACCGGCTGACCCTTGGCCTCATCTGGACCATCATCCTGCGCTTCCAGATCCAGGATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCC
AAGGATGCATTGCTGTTGTGGTGCCAGATGAAGACAGCTGGGTACCCCAATGTCAACATTCACAATTTCACCACTAGCTGGAGGGACGGCATGGCCTTCAATGCA
CTGATACACAAACACCGGCCTGACCTGATAGATTTTGACAAACTAAAGAAATCTAACGCACACTACAACCTGCAGAATGCATTTAATCTGGCAGAACAGCACCTC
GGCCTCACTAAACTGTTGGACCCCGAAGACATCAGCGTGGACCATCCTGATGAGAAGTCCATAATCACTTATGTGGTGACTTATTACCACTACTTCTCTAAGATG
AAGGCCTTAGCTGTTGAAGGAAAACGAATTGGAAAGGTGCTTGACAATGCTATTGAAACAGAAAAAATGATTGAAAAGTATGAATCACTTGCCTCTGACCTTCTG
GAATGGATTGAACAAACCATCATCATTCTGAACAATCGCAAATTTGCCAATTCACTGGTCGGGGTTCAACAGCAGCTTCAGGCATTCAACACTTACCGCACTGTG
GAGAAACCACCCAAATTTACTGAGAAGGGGAACTTGGAAGTGCTGCTCTTCACCATTCAGAGCAAGATGAGGGCCAACAACCAGAAGGTCTACATGCCCCGGGAG
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>SPTBN1|6711|protein
MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTFTKWVNSHLARVSCRITDLYTDLRDGRMLIKLLEVLSGERLPKPTK
GRMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDNKEKKSAKDALLLWCQMKTAGYPNVNIHNFTTSWRDGMAFNA
LIHKHRPDLIDFDKLKKSNAHYNLQNAFNLAEQHLGLTKLLDPEDISVDHPDEKSIITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIETEKMIEKYESLASDLL
EWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPKFTEKGNLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKL
EQLARRFDRKAAMRETWLSENQRLVSQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQAVVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLE
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MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTFTKWVNSHLARVSCRITDLYTDLRDGRMLIKLLEVLSGERLPKPTK
GRMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDNKEKKSAKDALLLWCQMKTAGYPNVNIHNFTTSWRDGMAFNA
LIHKHRPDLIDFDKLKKSNAHYNLQNAFNLAEQHLGLTKLLDPEDISVDHPDEKSIITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIETEKMIEKYESLASDLL
EWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPKFTEKGNLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKL
EQLARRFDRKAAMRETWLSENQRLVSQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQAVVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLE
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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) | 0 (0) | 0 (0) | 1 (1) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| 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%) |
1.1361 | Up | 22.7061 | |
| ||||||||||||
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 |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
| Redin C, 2017 | 28 | - | 34 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali |
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.