Evidence Details for ARHGEF33
Basic Information Top
Gene Symbol: | ARHGEF33 ( FLJ41381 ) |
---|---|
Gene Full Name: | Rho guanine nucleotide exchange factor (GEF) 33 |
Band: | 2p22.1 |
Quick Links | Entrez ID:100271715; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000214694; HGNC ID: 37252 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ARHGEF33|100271715|nucleotide
ATGGAAAAAACCAAAACAAAGCAAGGAGAGAATGAACATATGCCGGTGAATAATCCTTCCACGCAGATTTACCAGTTGCAGGCCCTAGCCTCCGAACTCAAAACT
GGTTTCACAGAAGCAATGCAAGAACTGTCAAGAATTCAACATGGAGAATATGCTTTGGAAGAAAAGGTTAAGAGCTGCAGATGTTCCATGGAAGAAAAAGTTACT
GAGATGAAGAATTCATTAAACTATTTCAAGGAAGAGCTGAGCAATGCCATGTCGATGATCCAAGCCATCACTTCCAAACAAGAAGAAATGCAACAGAAAATCGAG
CAGCTTCAACAGGAGAAGCGAAGAGAATCTCGAAAAGTTAAAGCCAAGAAAACTCAAAAAGAAGAGCACAGCTCACAGGCCGGGCCTGCCCAAGCACAAGGAAGT
CCTTTTCGTTCTATCAATATCCCTGAGCCTGTTCTTCCAAGCGAAGACTTTACCAACCTTTTGCCTTCTCAGGCCTACGAGAAAGCCCAAGAGTCCAGATCTGTT
CATGTAGGAGACAGTAATGTAAAAGGAATGATGGGTCCTGGAGTGAACCCAACAACTCCAGAAGCAGAAGAAAACCTCAAGTCTTGCCTCTCGGCTGATATCCAG
TCCAAGGGCCATCTCCCATCTGGCATGTGGAGGCAGCCTAAGGATGGTAAAGAATGGGGTGAAGAATACGTCACAAAAGACCACCCAGATAAACTCAAGGAGGCT
GGCCAGGGTAGACACAGCTCCTTGGAAAACGTTTTATGTGAAACCTCCTTAGCTGCTAAAAGACAGACTGTGGCCCTGGAACTGCTTGAATCTGAAAGAAAATAT
GTCATTAACATCTCTCTGATCTTGAAGATAAAAGCCACATTCCAGGGGTCAGATGGAAAGAGGAATTCCAAAGAGAGAAGCCTCTTCCCTGGCTCTTTACGGTAC
CTCGTCCAGCAGCACCTGGATCTGCTTCACGCACTGCAGGAAAGGGTCCTGAAGTGGCCACGCCAAGGCGTTCTTGGAGATTTATTCCTTAAGTTAACAAATGAC
GAGAATAATTTCTTGGATTATTATGTTGCCTACCTAAGGGACCTGCCTGAGTGCATCTCATTGGTTCATGTTGTAGTCCTGAAAGAGGGTGATGAAGAGATTAAA
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ATGGAAAAAACCAAAACAAAGCAAGGAGAGAATGAACATATGCCGGTGAATAATCCTTCCACGCAGATTTACCAGTTGCAGGCCCTAGCCTCCGAACTCAAAACT
GGTTTCACAGAAGCAATGCAAGAACTGTCAAGAATTCAACATGGAGAATATGCTTTGGAAGAAAAGGTTAAGAGCTGCAGATGTTCCATGGAAGAAAAAGTTACT
GAGATGAAGAATTCATTAAACTATTTCAAGGAAGAGCTGAGCAATGCCATGTCGATGATCCAAGCCATCACTTCCAAACAAGAAGAAATGCAACAGAAAATCGAG
CAGCTTCAACAGGAGAAGCGAAGAGAATCTCGAAAAGTTAAAGCCAAGAAAACTCAAAAAGAAGAGCACAGCTCACAGGCCGGGCCTGCCCAAGCACAAGGAAGT
CCTTTTCGTTCTATCAATATCCCTGAGCCTGTTCTTCCAAGCGAAGACTTTACCAACCTTTTGCCTTCTCAGGCCTACGAGAAAGCCCAAGAGTCCAGATCTGTT
CATGTAGGAGACAGTAATGTAAAAGGAATGATGGGTCCTGGAGTGAACCCAACAACTCCAGAAGCAGAAGAAAACCTCAAGTCTTGCCTCTCGGCTGATATCCAG
TCCAAGGGCCATCTCCCATCTGGCATGTGGAGGCAGCCTAAGGATGGTAAAGAATGGGGTGAAGAATACGTCACAAAAGACCACCCAGATAAACTCAAGGAGGCT
GGCCAGGGTAGACACAGCTCCTTGGAAAACGTTTTATGTGAAACCTCCTTAGCTGCTAAAAGACAGACTGTGGCCCTGGAACTGCTTGAATCTGAAAGAAAATAT
GTCATTAACATCTCTCTGATCTTGAAGATAAAAGCCACATTCCAGGGGTCAGATGGAAAGAGGAATTCCAAAGAGAGAAGCCTCTTCCCTGGCTCTTTACGGTAC
CTCGTCCAGCAGCACCTGGATCTGCTTCACGCACTGCAGGAAAGGGTCCTGAAGTGGCCACGCCAAGGCGTTCTTGGAGATTTATTCCTTAAGTTAACAAATGAC
GAGAATAATTTCTTGGATTATTATGTTGCCTACCTAAGGGACCTGCCTGAGTGCATCTCATTGGTTCATGTTGTAGTCCTGAAAGAGGGTGATGAAGAGATTAAA
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>ARHGEF33|100271715|protein
MEKTKTKQGENEHMPVNNPSTQIYQLQALASELKTGFTEAMQELSRIQHGEYALEEKVKSCRCSMEEKVTEMKNSLNYFKEELSNAMSMIQAITSKQEEMQQKIE
QLQQEKRRESRKVKAKKTQKEEHSSQAGPAQAQGSPFRSINIPEPVLPSEDFTNLLPSQAYEKAQESRSVHVGDSNVKGMMGPGVNPTTPEAEENLKSCLSADIQ
SKGHLPSGMWRQPKDGKEWGEEYVTKDHPDKLKEAGQGRHSSLENVLCETSLAAKRQTVALELLESERKYVINISLILKIKATFQGSDGKRNSKERSLFPGSLRY
LVQQHLDLLHALQERVLKWPRQGVLGDLFLKLTNDENNFLDYYVAYLRDLPECISLVHVVVLKEGDEEIKSDIYTLFFHIVQRIPEYLIHLQNVLKFTEQEHPDY
YLLLVCVQRLRVFISHYTLLFQCNEDLLIQKRKKLKKSSMAKLYKGLASQCANAGQDASPTAGPEAVRDTGIHSEELLQPYPSAPSSGPAITHLMPPVKKSQQQQ
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MEKTKTKQGENEHMPVNNPSTQIYQLQALASELKTGFTEAMQELSRIQHGEYALEEKVKSCRCSMEEKVTEMKNSLNYFKEELSNAMSMIQAITSKQEEMQQKIE
QLQQEKRRESRKVKAKKTQKEEHSSQAGPAQAQGSPFRSINIPEPVLPSEDFTNLLPSQAYEKAQESRSVHVGDSNVKGMMGPGVNPTTPEAEENLKSCLSADIQ
SKGHLPSGMWRQPKDGKEWGEEYVTKDHPDKLKEAGQGRHSSLENVLCETSLAAKRQTVALELLESERKYVINISLILKIKATFQGSDGKRNSKERSLFPGSLRY
LVQQHLDLLHALQERVLKWPRQGVLGDLFLKLTNDENNFLDYYVAYLRDLPECISLVHVVVLKEGDEEIKSDIYTLFFHIVQRIPEYLIHLQNVLKFTEQEHPDY
YLLLVCVQRLRVFISHYTLLFQCNEDLLIQKRKKLKKSSMAKLYKGLASQCANAGQDASPTAGPEAVRDTGIHSEELLQPYPSAPSSGPAITHLMPPVKKSQQQQ
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Evidence summary Top
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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 (1) | 0 (0) | 0 (0) | 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
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Chen R, 2017 | 107 | 116 | 128 | Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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