Evidence Details for SLC45A4
Basic Information Top
| Gene Symbol: | SLC45A4 ( KIAA1126 ) |
|---|---|
| Gene Full Name: | solute carrier family 45, member 4 |
| Band: | 8q24.3 |
| Quick Links | Entrez ID:57210; OMIM: NA; Uniprot ID:C9JFW9_HUMAN; ENSEMBL ID: ENSG00000022567; HGNC ID: 29196 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SLC45A4|57210|nucleotide
ATGGGGAAAGCAAGCCCAGCCTCAGGGCTGTCCCGTCCAAAGACCCTTGTGAGTCCACTGAGGTCAAATCAATGGAGTCTTCAGAAAGGCCTTCCGGAGCAGTAC
TACAGCCTCACCTGGTTCCTGAGCCCCATCCTTGGCCTCATCTTCACACCTCTCATTGGGTCTGCGAGTGACCGGTGCACCCTGAGCTGGGGCCGCCGGCGGCCC
TTCATCCTCGCCCTCTGCGTTGGCGTCCTCTTTGGCGTTGCACTTTTCCTTAACGGCTCTGCCATCGGTCTGGCCCTCGGCGATGTCCCCAACCGGCAGCCCATT
GGCATCGTGCTCACGGTGCTGGGAGTGGTGGTCCTGGACTTCAGCGCCGATGCCACCGAGGGGCCCATCCGTGCCTATCTGCTGGACGTGGTGGACAGCGAGGAG
CAGGACATGGCCCTCAACATCCACGCCTTCTCTGCCGGCCTCGGCGGAGCCATCGGCTACGTGCTGGGTGGGCTGGACTGGACCCAGACCTTCCTGGGCAGCTGG
TTCCGGACCCAGAACCAGGTGCTCTTCTTCTTTGCCGCCATCATCTTCACGGTGTCCGTGGCCCTGCACCTGTTCAGCATCGACGAGGAGCAGTACAGCCCGCAG
CAGGAGCGCAGCGCTGAGGAGCCCGGCGCCCTGGATGGGGGCGAGCCGCACGGCGTCCCTGCCTTCCCAGACGAGGTACAGTCGGAGCACGAGCTGGCCCTGGAC
TACCCGGACGTGGACATCATGCGCAGCAAAAGCGACTCGGCATTGCACGTGCCGGACACCGCGCTGGACCTGGAGCCCGAGCTGCTGTTCCTGCACGACATCGAG
CCCTCCATCTTCCACGACGCCTCCTACCCCGCCACCCCCCGCAGCACCAGCCAGGAGCTCGCCAAGACCAAGCTGCCCCGCCTGGCCACCTTCCTCAAGGAAGCC
GCCAAGGAGGACGAGACCTTGCTGGATAATCACTTGAATGAAGCTAAAGTCCCAAACGGAAGTGGCTCCCCCACAAAAGACGCCCTCGGCGGCTACACCAGGGTG
GACACGAAGCCCTCGGCCACGTCGAGCTCCATGCGGCGGCGGCGGCACGCGTTCCGCAGGCAGGCCTCCAGCACCTTCTCCTACTACGGCAAGCTTGGGTCCCAC
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ATGGGGAAAGCAAGCCCAGCCTCAGGGCTGTCCCGTCCAAAGACCCTTGTGAGTCCACTGAGGTCAAATCAATGGAGTCTTCAGAAAGGCCTTCCGGAGCAGTAC
TACAGCCTCACCTGGTTCCTGAGCCCCATCCTTGGCCTCATCTTCACACCTCTCATTGGGTCTGCGAGTGACCGGTGCACCCTGAGCTGGGGCCGCCGGCGGCCC
TTCATCCTCGCCCTCTGCGTTGGCGTCCTCTTTGGCGTTGCACTTTTCCTTAACGGCTCTGCCATCGGTCTGGCCCTCGGCGATGTCCCCAACCGGCAGCCCATT
GGCATCGTGCTCACGGTGCTGGGAGTGGTGGTCCTGGACTTCAGCGCCGATGCCACCGAGGGGCCCATCCGTGCCTATCTGCTGGACGTGGTGGACAGCGAGGAG
CAGGACATGGCCCTCAACATCCACGCCTTCTCTGCCGGCCTCGGCGGAGCCATCGGCTACGTGCTGGGTGGGCTGGACTGGACCCAGACCTTCCTGGGCAGCTGG
TTCCGGACCCAGAACCAGGTGCTCTTCTTCTTTGCCGCCATCATCTTCACGGTGTCCGTGGCCCTGCACCTGTTCAGCATCGACGAGGAGCAGTACAGCCCGCAG
CAGGAGCGCAGCGCTGAGGAGCCCGGCGCCCTGGATGGGGGCGAGCCGCACGGCGTCCCTGCCTTCCCAGACGAGGTACAGTCGGAGCACGAGCTGGCCCTGGAC
TACCCGGACGTGGACATCATGCGCAGCAAAAGCGACTCGGCATTGCACGTGCCGGACACCGCGCTGGACCTGGAGCCCGAGCTGCTGTTCCTGCACGACATCGAG
CCCTCCATCTTCCACGACGCCTCCTACCCCGCCACCCCCCGCAGCACCAGCCAGGAGCTCGCCAAGACCAAGCTGCCCCGCCTGGCCACCTTCCTCAAGGAAGCC
GCCAAGGAGGACGAGACCTTGCTGGATAATCACTTGAATGAAGCTAAAGTCCCAAACGGAAGTGGCTCCCCCACAAAAGACGCCCTCGGCGGCTACACCAGGGTG
GACACGAAGCCCTCGGCCACGTCGAGCTCCATGCGGCGGCGGCGGCACGCGTTCCGCAGGCAGGCCTCCAGCACCTTCTCCTACTACGGCAAGCTTGGGTCCCAC
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>SLC45A4|57210|protein
MGKASPASGLSRPKTLVSPLRSNQWSLQKGLPEQYYSLTWFLSPILGLIFTPLIGSASDRCTLSWGRRRPFILALCVGVLFGVALFLNGSAIGLALGDVPNRQPI
GIVLTVLGVVVLDFSADATEGPIRAYLLDVVDSEEQDMALNIHAFSAGLGGAIGYVLGGLDWTQTFLGSWFRTQNQVLFFFAAIIFTVSVALHLFSIDEEQYSPQ
QERSAEEPGALDGGEPHGVPAFPDEVQSEHELALDYPDVDIMRSKSDSALHVPDTALDLEPELLFLHDIEPSIFHDASYPATPRSTSQELAKTKLPRLATFLKEA
AKEDETLLDNHLNEAKVPNGSGSPTKDALGGYTRVDTKPSATSSSMRRRRHAFRRQASSTFSYYGKLGSHCYRYRRANAVVLIKPSRSMSDLYDMQKRQRQHRHR
NQSGATTSSGDTESEEGEGETTVRLLWLSMLKMPRELMRLCLCHLLTWFSVIAEAVFYTDFMGQVIFEGDPKAPSNSTAWQAYNAGVKMGCWGLVIYAATGAICS
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MGKASPASGLSRPKTLVSPLRSNQWSLQKGLPEQYYSLTWFLSPILGLIFTPLIGSASDRCTLSWGRRRPFILALCVGVLFGVALFLNGSAIGLALGDVPNRQPI
GIVLTVLGVVVLDFSADATEGPIRAYLLDVVDSEEQDMALNIHAFSAGLGGAIGYVLGGLDWTQTFLGSWFRTQNQVLFFFAAIIFTVSVALHLFSIDEEQYSPQ
QERSAEEPGALDGGEPHGVPAFPDEVQSEHELALDYPDVDIMRSKSDSALHVPDTALDLEPELLFLHDIEPSIFHDASYPATPRSTSQELAKTKLPRLATFLKEA
AKEDETLLDNHLNEAKVPNGSGSPTKDALGGYTRVDTKPSATSSSMRRRRHAFRRQASSTFSYYGKLGSHCYRYRRANAVVLIKPSRSMSDLYDMQKRQRQHRHR
NQSGATTSSGDTESEEGEGETTVRLLWLSMLKMPRELMRLCLCHLLTWFSVIAEAVFYTDFMGQVIFEGDPKAPSNSTAWQAYNAGVKMGCWGLVIYAATGAICS
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Evidence summary Top
Click 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) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
Low Scale Gene Studies Top
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