Evidence Details for SPTB
Basic Information Top
| Gene Symbol: | SPTB ( EL3,HS2,HSPTB1,SPH2 ) |
|---|---|
| Gene Full Name: | spectrin, beta, erythrocytic |
| Band: | 14q23.3 |
| Quick Links | Entrez ID:6710; OMIM: 182870; Uniprot ID:SPTB1_HUMAN; ENSEMBL ID: ENSG00000070182; HGNC ID: 11274 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SPTB|6710|nucleotide
ATGACATCGGCCACAGAGTTTGAAAATGTGGGCAACCAGCCACCTTACAGCAGGATCAATGCCCGCTGGGACGCCCCAGACGACGAGCTGGATAATGACAACAGC
TCAGCCAGGCTCTTTGAGAGGTCCCGGATAAAGGCCTTGGCAGATGAGCGGGAAGTTGTTCAGAAAAAGACCTTCACGAAATGGGTGAACTCGCACCTGGCTCGA
GTGTCCTGCCGCATCACCGATCTCTACAAGGACCTGCGGGATGGGCGCATGCTCATCAAGCTGCTGGAGGTGCTCTCTGGAGAGATGCTGCCAAAGCCCACCAAG
GGGAAGATGCGCATCCACTGCCTGGAGAATGTGGACAAGGCTCTCCAGTTCCTCAAGGAGCAGCGTGTACACCTGGAGAACATGGGCTCCCACGACATTGTAGAT
GGCAACCACCGCCTGGTCCTGGGCCTCATCTGGACCATCATCCTCCGCTTCCAGATTCAGGACATTGTGGTCCAAACTCAGGAAGGTCGTGAAACACGCTCAGCC
AAGGATGCGTTGCTGTTGTGGTGTCAGATGAAGACGGCAGGCTACCCTCATGTTAATGTCACCAACTTTACCTCCAGCTGGAAGGATGGCTTGGCCTTTAATGCC
CTGATACACAAGCACCGGCCCGACCTGATCGACTTTGATAAGCTGAAGGACTCCAATGCCCGGCACAACCTGGAGCACGCATTCAATGTGGCTGAGCGCCAGCTG
GGCATCATCCCGCTCCTCGACCCCGAAGATGTCTTTACGGAAAACCCTGATGAGAAATCCATCATCACCTATGTGGTGGCCTTTTACCACTACTTCTCCAAGATG
AAGGTGCTGGCAGTGGAGGGCAAGCGTGTCGGCAAGGTTATTGACCATGCCATTGAGACTGAGAAGATGATTGAAAAGTACAGCGGGCTAGCCTCGGACCTGCTC
ACCTGGATCGAGCAGACCATCACTGTCCTGAACAGCCGCAAGTTTGCCAACTCGCTGACGGGCGTCCAGCAGCAGCTGCAGGCCTTCAGCACCTACCGCACCGTG
GAGAAGCCGCCCAAGTTTCAAGAGAAGGGGAATCTGGAAGTTCTACTTTTTACCATCCAGTCCCGGATGAGAGCCAACAATCAGAAAGTGTACACACCCCACGAT
Show »
ATGACATCGGCCACAGAGTTTGAAAATGTGGGCAACCAGCCACCTTACAGCAGGATCAATGCCCGCTGGGACGCCCCAGACGACGAGCTGGATAATGACAACAGC
TCAGCCAGGCTCTTTGAGAGGTCCCGGATAAAGGCCTTGGCAGATGAGCGGGAAGTTGTTCAGAAAAAGACCTTCACGAAATGGGTGAACTCGCACCTGGCTCGA
GTGTCCTGCCGCATCACCGATCTCTACAAGGACCTGCGGGATGGGCGCATGCTCATCAAGCTGCTGGAGGTGCTCTCTGGAGAGATGCTGCCAAAGCCCACCAAG
GGGAAGATGCGCATCCACTGCCTGGAGAATGTGGACAAGGCTCTCCAGTTCCTCAAGGAGCAGCGTGTACACCTGGAGAACATGGGCTCCCACGACATTGTAGAT
GGCAACCACCGCCTGGTCCTGGGCCTCATCTGGACCATCATCCTCCGCTTCCAGATTCAGGACATTGTGGTCCAAACTCAGGAAGGTCGTGAAACACGCTCAGCC
AAGGATGCGTTGCTGTTGTGGTGTCAGATGAAGACGGCAGGCTACCCTCATGTTAATGTCACCAACTTTACCTCCAGCTGGAAGGATGGCTTGGCCTTTAATGCC
CTGATACACAAGCACCGGCCCGACCTGATCGACTTTGATAAGCTGAAGGACTCCAATGCCCGGCACAACCTGGAGCACGCATTCAATGTGGCTGAGCGCCAGCTG
GGCATCATCCCGCTCCTCGACCCCGAAGATGTCTTTACGGAAAACCCTGATGAGAAATCCATCATCACCTATGTGGTGGCCTTTTACCACTACTTCTCCAAGATG
AAGGTGCTGGCAGTGGAGGGCAAGCGTGTCGGCAAGGTTATTGACCATGCCATTGAGACTGAGAAGATGATTGAAAAGTACAGCGGGCTAGCCTCGGACCTGCTC
ACCTGGATCGAGCAGACCATCACTGTCCTGAACAGCCGCAAGTTTGCCAACTCGCTGACGGGCGTCCAGCAGCAGCTGCAGGCCTTCAGCACCTACCGCACCGTG
GAGAAGCCGCCCAAGTTTCAAGAGAAGGGGAATCTGGAAGTTCTACTTTTTACCATCCAGTCCCGGATGAGAGCCAACAATCAGAAAGTGTACACACCCCACGAT
Show »
>SPTB|6710|protein
MTSATEFENVGNQPPYSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTFTKWVNSHLARVSCRITDLYKDLRDGRMLIKLLEVLSGEMLPKPTK
GKMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALLLWCQMKTAGYPHVNVTNFTSSWKDGLAFNA
LIHKHRPDLIDFDKLKDSNARHNLEHAFNVAERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIETEKMIEKYSGLASDLL
TWIEQTITVLNSRKFANSLTGVQQQLQAFSTYRTVEKPPKFQEKGNLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYRRELALRNELIRQEKL
EQLARRFDRKAAMRETWLSENQRLVAQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVRALEDLAQELEKENYHDQKRITARKDNILRLWSYLQELLQSRRQRLE
Show »
MTSATEFENVGNQPPYSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTFTKWVNSHLARVSCRITDLYKDLRDGRMLIKLLEVLSGEMLPKPTK
GKMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALLLWCQMKTAGYPHVNVTNFTSSWKDGLAFNA
LIHKHRPDLIDFDKLKDSNARHNLEHAFNVAERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIETEKMIEKYSGLASDLL
TWIEQTITVLNSRKFANSLTGVQQQLQAFSTYRTVEKPPKFQEKGNLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYRRELALRNELIRQEKL
EQLARRFDRKAAMRETWLSENQRLVAQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVRALEDLAQELEKENYHDQKRITARKDNILRLWSYLQELLQSRRQRLE
Show »
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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 11 (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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kuwano, 2011_2 | Japan | Mother with ASD children | 21 (100.00%) | - | - | - | - | 21 (100.00%) |
2.05 | Up | 0.00405 | |
| ||||||||||||
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 |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| 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.