Evidence Details for SRMS
Basic Information Top
| Gene Symbol: | SRMS ( C20orf148,SRM,dJ697K14.1 ) |
|---|---|
| Gene Full Name: | src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
| Band: | 20q13.33 |
| Quick Links | Entrez ID:6725; OMIM: NA; Uniprot ID:SRMS_HUMAN; ENSEMBL ID: ENSG00000125508; HGNC ID: 11298 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SRMS|6725|nucleotide
ATGGAGCCGTTCCTCAGGAGGCGGCTGGCCTTCCTGTCCTTCTTCTGGGACAAGATCTGGCCGGCGGGCGGCGAGCCGGACCATGGCACCCCCGGGTCCCTGGAC
CCCAACACTGACCCAGTGCCCACGCTCCCCGCCGAGCCTTGCAGCCCCTTCCCTCAGCTCTTCCTTGCGCTCTATGACTTCACGGCGCGGTGTGGCGGGGAGCTG
AGTGTCCGCCGCGGGGACAGGCTCTGTGCCCTCGAAGAGGGGGGCGGCTACATCTTCGCACGCAGGCTTTCGGGCCAGCCCAGCGCCGGGCTCGTGCCCATCACC
CACGTGGCCAAGGCTTCTCCTGAGACGCTCTCAGACCAACCCTGGTACTTTAGCGGGGTCAGTCGGACCCAGGCACAGCAGCTGCTCCTCTCCCCACCCAACGAA
CCAGGGGCCTTCCTCATCCGGCCCAGCGAGAGCAGCCTCGGGGGCTACTCACTGTCAGTCCGGGCCCAGGCCAAGGTCTGCCACTACCGGGTCTCCATGGCAGCT
GATGGCAGCCTCTACCTGCAGAAGGGACGGCTCTTTCCCGGCCTGGAGGAGCTGCTCACCTACTACAAGGCCAACTGGAAGCTGATCCAGAACCCCCTGCTGCAG
CCCTGCATGCCCCAGAAGGCCCCGAGGCAGGACGTGTGGGAGCGGCCACACTCCGAATTCGCCCTTGGGAGGAAGCTGGGTGAAGGCTACTTTGGGGAGGTGTGG
GAAGGCCTGTGGCTGGGCTCCCTGCCCGTGGCGATCAAGGTCATCAAGTCAGCCAACATGAAGCTCACTGACCTCGCCAAGGAGATCCAGACACTGAAGGGCCTG
CGGCACGAGCGGCTCATCCGGCTGCACGCAGTGTGCTCGGGCGGGGAGCCTGTGTACATCGTCACGGAACTCATGCGCAAGGGGAACCTGCAGGCCTTCCTGGGC
ACCCCCGAGGGCCGGGCCCTGCGTCTGCCGCCACTCCTGGGCTTTGCCTGCCAGGTGGCTGAGGGCATGAGCTACCTGGAGGAGCAGCGCGTTGTGCACCGGGAC
TTGGCCGCCCGGAACGTGCTCGTGGACGACGGCCTGGCCTGCAAGGTGGCTGACTTCGGCCTGGCCCGGCTGCTCAAGGACGACATCTACTCCCCGAGCAGCAGC
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ATGGAGCCGTTCCTCAGGAGGCGGCTGGCCTTCCTGTCCTTCTTCTGGGACAAGATCTGGCCGGCGGGCGGCGAGCCGGACCATGGCACCCCCGGGTCCCTGGAC
CCCAACACTGACCCAGTGCCCACGCTCCCCGCCGAGCCTTGCAGCCCCTTCCCTCAGCTCTTCCTTGCGCTCTATGACTTCACGGCGCGGTGTGGCGGGGAGCTG
AGTGTCCGCCGCGGGGACAGGCTCTGTGCCCTCGAAGAGGGGGGCGGCTACATCTTCGCACGCAGGCTTTCGGGCCAGCCCAGCGCCGGGCTCGTGCCCATCACC
CACGTGGCCAAGGCTTCTCCTGAGACGCTCTCAGACCAACCCTGGTACTTTAGCGGGGTCAGTCGGACCCAGGCACAGCAGCTGCTCCTCTCCCCACCCAACGAA
CCAGGGGCCTTCCTCATCCGGCCCAGCGAGAGCAGCCTCGGGGGCTACTCACTGTCAGTCCGGGCCCAGGCCAAGGTCTGCCACTACCGGGTCTCCATGGCAGCT
GATGGCAGCCTCTACCTGCAGAAGGGACGGCTCTTTCCCGGCCTGGAGGAGCTGCTCACCTACTACAAGGCCAACTGGAAGCTGATCCAGAACCCCCTGCTGCAG
CCCTGCATGCCCCAGAAGGCCCCGAGGCAGGACGTGTGGGAGCGGCCACACTCCGAATTCGCCCTTGGGAGGAAGCTGGGTGAAGGCTACTTTGGGGAGGTGTGG
GAAGGCCTGTGGCTGGGCTCCCTGCCCGTGGCGATCAAGGTCATCAAGTCAGCCAACATGAAGCTCACTGACCTCGCCAAGGAGATCCAGACACTGAAGGGCCTG
CGGCACGAGCGGCTCATCCGGCTGCACGCAGTGTGCTCGGGCGGGGAGCCTGTGTACATCGTCACGGAACTCATGCGCAAGGGGAACCTGCAGGCCTTCCTGGGC
ACCCCCGAGGGCCGGGCCCTGCGTCTGCCGCCACTCCTGGGCTTTGCCTGCCAGGTGGCTGAGGGCATGAGCTACCTGGAGGAGCAGCGCGTTGTGCACCGGGAC
TTGGCCGCCCGGAACGTGCTCGTGGACGACGGCCTGGCCTGCAAGGTGGCTGACTTCGGCCTGGCCCGGCTGCTCAAGGACGACATCTACTCCCCGAGCAGCAGC
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>SRMS|6725|protein
MEPFLRRRLAFLSFFWDKIWPAGGEPDHGTPGSLDPNTDPVPTLPAEPCSPFPQLFLALYDFTARCGGELSVRRGDRLCALEEGGGYIFARRLSGQPSAGLVPIT
HVAKASPETLSDQPWYFSGVSRTQAQQLLLSPPNEPGAFLIRPSESSLGGYSLSVRAQAKVCHYRVSMAADGSLYLQKGRLFPGLEELLTYYKANWKLIQNPLLQ
PCMPQKAPRQDVWERPHSEFALGRKLGEGYFGEVWEGLWLGSLPVAIKVIKSANMKLTDLAKEIQTLKGLRHERLIRLHAVCSGGEPVYIVTELMRKGNLQAFLG
TPEGRALRLPPLLGFACQVAEGMSYLEEQRVVHRDLAARNVLVDDGLACKVADFGLARLLKDDIYSPSSSSKIPVKWTAPEAANYRVFSQKSDVWSFGVLLHEVF
TYGQCPYEGMTNHETLQQIMRGYRLPRPAACPAEVYVLMLECWRSSPEERPSFATLREKLHAIHRCHP
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MEPFLRRRLAFLSFFWDKIWPAGGEPDHGTPGSLDPNTDPVPTLPAEPCSPFPQLFLALYDFTARCGGELSVRRGDRLCALEEGGGYIFARRLSGQPSAGLVPIT
HVAKASPETLSDQPWYFSGVSRTQAQQLLLSPPNEPGAFLIRPSESSLGGYSLSVRAQAKVCHYRVSMAADGSLYLQKGRLFPGLEELLTYYKANWKLIQNPLLQ
PCMPQKAPRQDVWERPHSEFALGRKLGEGYFGEVWEGLWLGSLPVAIKVIKSANMKLTDLAKEIQTLKGLRHERLIRLHAVCSGGEPVYIVTELMRKGNLQAFLG
TPEGRALRLPPLLGFACQVAEGMSYLEEQRVVHRDLAARNVLVDDGLACKVADFGLARLLKDDIYSPSSSSKIPVKWTAPEAANYRVFSQKSDVWSFGVLLHEVF
TYGQCPYEGMTNHETLQQIMRGYRLPRPAACPAEVYVLMLECWRSSPEERPSFATLREKLHAIHRCHP
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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 | 1 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | ||||||||||||
| Anney RJL, 2017_3 | replication | 1369 (-) |  | | ASD | - - |
- | 137308 (-) |
- - | |||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow 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.