Evidence Details for SRL
Basic Information Top
| Gene Symbol: | SRL ( - ) |
|---|---|
| Gene Full Name: | sarcalumenin |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:6345; OMIM: 604992; Uniprot ID:SRCA_HUMAN; ENSEMBL ID: ENSG00000185739; HGNC ID: 11295 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SRL|6345|nucleotide
ATGAGGGCGCTGGTCCTGCTCGGCTGCCTCCTGGCCTCGCTCCTGTTCTCAGGACAAGCAGAAGAGACGGAGGATGCAAATGAAGAAGCCCCATTGAGGGACCGC
TCCCACATCGAGAAGACCCTCATGCTGAATGAGGACAAGCCATCCGATGACTACTCTGCGGTGCTGCAGCGGCTTCGGAAGATCTACCACTCATCCATCAAGCCT
CTGGAGCAGTCCTACAAGTACAATGAGCTCCGGCAGCATGAGATCACAGATGGAGAGATTACCTCCAAGCCCATGGTACTGTTCCTGGGACCGTGGAGTGTTGGT
AAATCTACCATGATAAACTACCTCCTTGGGCTGGAAAATACTCGCTATCAGCTCTATACAGGCGCTGAACCCACCACCTCTGAGTTCACGGTCCTCATGCATGGG
CCTAAGCTGAAAACCATCGAGGGCATCGTCATGGCTGCTGACAGCGCCCGTTCCTTCTCACCCCTTGAGAAGTTTGGCCAGAATTTCCTAGAGAAGCTGATTGGC
ATTGAGGTTCCCCACAAACTTCTGGAGAGGGTCACTTTTGTGGATACACCAGGCATCATCGAGAACCGCAAGCAGCAAGAAAGAGGCTACCCCTTCAACGACGTG
TGCCAGTGGTTCATCGACAGAGCTGACCTCATCTTTGTCGTCTTTGACCCAACAAAGCTGGATGTGGGTCTAGAGCTGGAGATGCTCTTCCGCCAGTTGAAGGGG
CGTGAATCCCAGATAAGGATCATCCTGAACAAGGCTGACAATCTGGCCACCCAAATGCTCATGCGGGTTTACGGGGCCCTCTTCTGGAGCTTGGCCCCTCTCATC
AATGTCACAGAGCCCCCAAGGGTTTACGTCAGCTCCTTCTGGCCACAAGAGTATAAGCCGGACACCCATCAGGAACTGTTCCTCCAAGAAGAGATCTCCCTCCTA
GAAGACCTGAATCAGGTGATCGAGAACAGACTGGAGAACAAGATTGCCTTCATCCGCCAGCACGCCATCCGGGTCCGCATCCACGCCCTCCTGGTTGACCGCTAC
CTGCAGACTTACAAGGACAAAATGACCTTCTTCAGTGATGGAGAACTGGTCTTTAAGGACATTGTGGAAGATCCCGATAAATTCTACATCTTCAAGACCATCCTG
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ATGAGGGCGCTGGTCCTGCTCGGCTGCCTCCTGGCCTCGCTCCTGTTCTCAGGACAAGCAGAAGAGACGGAGGATGCAAATGAAGAAGCCCCATTGAGGGACCGC
TCCCACATCGAGAAGACCCTCATGCTGAATGAGGACAAGCCATCCGATGACTACTCTGCGGTGCTGCAGCGGCTTCGGAAGATCTACCACTCATCCATCAAGCCT
CTGGAGCAGTCCTACAAGTACAATGAGCTCCGGCAGCATGAGATCACAGATGGAGAGATTACCTCCAAGCCCATGGTACTGTTCCTGGGACCGTGGAGTGTTGGT
AAATCTACCATGATAAACTACCTCCTTGGGCTGGAAAATACTCGCTATCAGCTCTATACAGGCGCTGAACCCACCACCTCTGAGTTCACGGTCCTCATGCATGGG
CCTAAGCTGAAAACCATCGAGGGCATCGTCATGGCTGCTGACAGCGCCCGTTCCTTCTCACCCCTTGAGAAGTTTGGCCAGAATTTCCTAGAGAAGCTGATTGGC
ATTGAGGTTCCCCACAAACTTCTGGAGAGGGTCACTTTTGTGGATACACCAGGCATCATCGAGAACCGCAAGCAGCAAGAAAGAGGCTACCCCTTCAACGACGTG
TGCCAGTGGTTCATCGACAGAGCTGACCTCATCTTTGTCGTCTTTGACCCAACAAAGCTGGATGTGGGTCTAGAGCTGGAGATGCTCTTCCGCCAGTTGAAGGGG
CGTGAATCCCAGATAAGGATCATCCTGAACAAGGCTGACAATCTGGCCACCCAAATGCTCATGCGGGTTTACGGGGCCCTCTTCTGGAGCTTGGCCCCTCTCATC
AATGTCACAGAGCCCCCAAGGGTTTACGTCAGCTCCTTCTGGCCACAAGAGTATAAGCCGGACACCCATCAGGAACTGTTCCTCCAAGAAGAGATCTCCCTCCTA
GAAGACCTGAATCAGGTGATCGAGAACAGACTGGAGAACAAGATTGCCTTCATCCGCCAGCACGCCATCCGGGTCCGCATCCACGCCCTCCTGGTTGACCGCTAC
CTGCAGACTTACAAGGACAAAATGACCTTCTTCAGTGATGGAGAACTGGTCTTTAAGGACATTGTGGAAGATCCCGATAAATTCTACATCTTCAAGACCATCCTG
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>SRL|6345|protein
MRALVLLGCLLASLLFSGQAEETEDANEEAPLRDRSHIEKTLMLNEDKPSDDYSAVLQRLRKIYHSSIKPLEQSYKYNELRQHEITDGEITSKPMVLFLGPWSVG
KSTMINYLLGLENTRYQLYTGAEPTTSEFTVLMHGPKLKTIEGIVMAADSARSFSPLEKFGQNFLEKLIGIEVPHKLLERVTFVDTPGIIENRKQQERGYPFNDV
CQWFIDRADLIFVVFDPTKLDVGLELEMLFRQLKGRESQIRIILNKADNLATQMLMRVYGALFWSLAPLINVTEPPRVYVSSFWPQEYKPDTHQELFLQEEISLL
EDLNQVIENRLENKIAFIRQHAIRVRIHALLVDRYLQTYKDKMTFFSDGELVFKDIVEDPDKFYIFKTILAKTNVSKFDLPNREAYKDFFGINPISSFKLLSQQC
SYMGGCFLEKIERAITQELPGLLGSLGLGKNPGALNCDKTGCSETPKNRYRKH
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MRALVLLGCLLASLLFSGQAEETEDANEEAPLRDRSHIEKTLMLNEDKPSDDYSAVLQRLRKIYHSSIKPLEQSYKYNELRQHEITDGEITSKPMVLFLGPWSVG
KSTMINYLLGLENTRYQLYTGAEPTTSEFTVLMHGPKLKTIEGIVMAADSARSFSPLEKFGQNFLEKLIGIEVPHKLLERVTFVDTPGIIENRKQQERGYPFNDV
CQWFIDRADLIFVVFDPTKLDVGLELEMLFRQLKGRESQIRIILNKADNLATQMLMRVYGALFWSLAPLINVTEPPRVYVSSFWPQEYKPDTHQELFLQEEISLL
EDLNQVIENRLENKIAFIRQHAIRVRIHALLVDRYLQTYKDKMTFFSDGELVFKDIVEDPDKFYIFKTILAKTNVSKFDLPNREAYKDFFGINPISSFKLLSQQC
SYMGGCFLEKIERAITQELPGLLGSLGLGKNPGALNCDKTGCSETPKNRYRKH
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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 (2) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
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 | ||||||
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
Linkage 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 | - | - | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.