Evidence Details for SLC25A18
Basic Information Top
| Gene Symbol: | SLC25A18 ( GC2 ) |
|---|---|
| Gene Full Name: | solute carrier family 25 (mitochondrial carrier), member 18 |
| Band: | 22q11.21 |
| Quick Links | Entrez ID:83733; OMIM: 609303; Uniprot ID:GHC2_HUMAN; ENSEMBL ID: ENSG00000182902; HGNC ID: 10988 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC25A18|83733|nucleotide
ATGACCCACCAGGATCTGAGCATCACAGCCAAACTCATCAATGGAGGTGTAGCAGGGCTCGTGGGGGTGACCTGCGTGTTCCCCATCGACTTGGCCAAGACTCGC
CTGCAGAACCAGCATGGGAAAGCCATGTACAAAGGAATGATCGACTGCCTGATGAAGACGGCTCGGGCGGAGGGCTTCTTCGGCATGTACCGAGGGGCTGCAGTG
AACCTCACTCTGGTCACTCCAGAGAAGGCCATCAAGCTGGCGGCCAACGACTTTTTCCGGCGGCTGCTCATGGAAGATGGGATGCAGCGGAACCTGAAGATGGAG
ATGCTTGCCGGGTGTGGGGCTGGGATGTGCCAGGTCGTGGTGACCTGTCCCATGGAAATGCTCAAGATTCAGCTGCAGGATGCTGGACGCCTGGCCGTCCATCAT
CAGGGCTCGGCCTCAGCACCCTCCACCTCCAGGTCCTACACAACTGGTTCGGCTTCCACCCACAGGCGCCCCTCTGCCACCCTCATTGCCTGGGAGCTGCTCCGC
ACTCAGGGCCTGGCTGGGCTCTACAGGGGCCTGGGTGCCACTCTCCTCAGAGACATTCCTTTCTCCATCATCTACTTCCCACTGTTTGCCAACCTTAACAACCTG
GGGTTCAACGAGCTCGCCGGTAAGGCGTCCTTTGCACATTCCTTCGTGTCAGGCTGTGTGGCAGGTTCCATAGCTGCGGTCGCAGTGACGCCTCTAGATGTTCTG
AAAACTCGAATCCAAACCCTCAAGAAAGGCCTGGGCGAGGACATGTACAGTGGGATCACCGACTGTGCCAGGAAACTCTGGATTCAGGAGGGACCATCTGCCTTC
ATGAAAGGCGCTGGCTGCCGGGCACTGGTCATAGCACCTCTCTTTGGGATTGCTCAAGGGGTCTATTTTATTGGGATTGGAGAGCGCATCTTAAAGTGTTTTGAC
TAG
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ATGACCCACCAGGATCTGAGCATCACAGCCAAACTCATCAATGGAGGTGTAGCAGGGCTCGTGGGGGTGACCTGCGTGTTCCCCATCGACTTGGCCAAGACTCGC
CTGCAGAACCAGCATGGGAAAGCCATGTACAAAGGAATGATCGACTGCCTGATGAAGACGGCTCGGGCGGAGGGCTTCTTCGGCATGTACCGAGGGGCTGCAGTG
AACCTCACTCTGGTCACTCCAGAGAAGGCCATCAAGCTGGCGGCCAACGACTTTTTCCGGCGGCTGCTCATGGAAGATGGGATGCAGCGGAACCTGAAGATGGAG
ATGCTTGCCGGGTGTGGGGCTGGGATGTGCCAGGTCGTGGTGACCTGTCCCATGGAAATGCTCAAGATTCAGCTGCAGGATGCTGGACGCCTGGCCGTCCATCAT
CAGGGCTCGGCCTCAGCACCCTCCACCTCCAGGTCCTACACAACTGGTTCGGCTTCCACCCACAGGCGCCCCTCTGCCACCCTCATTGCCTGGGAGCTGCTCCGC
ACTCAGGGCCTGGCTGGGCTCTACAGGGGCCTGGGTGCCACTCTCCTCAGAGACATTCCTTTCTCCATCATCTACTTCCCACTGTTTGCCAACCTTAACAACCTG
GGGTTCAACGAGCTCGCCGGTAAGGCGTCCTTTGCACATTCCTTCGTGTCAGGCTGTGTGGCAGGTTCCATAGCTGCGGTCGCAGTGACGCCTCTAGATGTTCTG
AAAACTCGAATCCAAACCCTCAAGAAAGGCCTGGGCGAGGACATGTACAGTGGGATCACCGACTGTGCCAGGAAACTCTGGATTCAGGAGGGACCATCTGCCTTC
ATGAAAGGCGCTGGCTGCCGGGCACTGGTCATAGCACCTCTCTTTGGGATTGCTCAAGGGGTCTATTTTATTGGGATTGGAGAGCGCATCTTAAAGTGTTTTGAC
TAG
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>SLC25A18|83733|protein
MTHQDLSITAKLINGGVAGLVGVTCVFPIDLAKTRLQNQHGKAMYKGMIDCLMKTARAEGFFGMYRGAAVNLTLVTPEKAIKLAANDFFRRLLMEDGMQRNLKME
MLAGCGAGMCQVVVTCPMEMLKIQLQDAGRLAVHHQGSASAPSTSRSYTTGSASTHRRPSATLIAWELLRTQGLAGLYRGLGATLLRDIPFSIIYFPLFANLNNL
GFNELAGKASFAHSFVSGCVAGSIAAVAVTPLDVLKTRIQTLKKGLGEDMYSGITDCARKLWIQEGPSAFMKGAGCRALVIAPLFGIAQGVYFIGIGERILKCFD
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MTHQDLSITAKLINGGVAGLVGVTCVFPIDLAKTRLQNQHGKAMYKGMIDCLMKTARAEGFFGMYRGAAVNLTLVTPEKAIKLAANDFFRRLLMEDGMQRNLKME
MLAGCGAGMCQVVVTCPMEMLKIQLQDAGRLAVHHQGSASAPSTSRSYTTGSASTHRRPSATLIAWELLRTQGLAGLYRGLGATLLRDIPFSIIYFPLFANLNNL
GFNELAGKASFAHSFVSGCVAGSIAAVAVTPLDVLKTRIQTLKKGLGEDMYSGITDCARKLWIQEGPSAFMKGAGCRALVIAPLFGIAQGVYFIGIGERILKCFD
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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) | 1 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen |  | | PDD | 99 | - | 99 | - | - | - | - |
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.