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Homo sapiens (human) family with sequence similarity 230 member A (FAM230A) URS0000DBA62F_9606

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FAM230A: FAM230A is a gene found in primates, except tarsiers, and is associated with DiGeorge syndrome, a complex disease involving language deficits [PMC4707268]. Within the FAM230A region, there are 14 DGCR genes, including DGCR1, DGCR2, DGCR3, DGCR6, DGCR6L, DGCR8, DGCR14 and DGCR15 (FAM230A), which are protein-coding genes [PMC4785558]. However, the characterization of FAM230A as a putative protein gene is premature due to a 50,000 bp unsequenced gap in the middle of the gene [PMC5906017]. FAM230A is believed to produce a nonsense-mediated mRNA decay transcript and does not appear to be a lincRNA gene [PMC5906017]. The FAM230A sequence has been found in several uncharacterized proteins but has not been identified in any known human protein [PMC7098633]. The FAM230A gene sequence provided by Ensembl is partial due to the unsequenced gap within the gene [PMC7098633]. FAM230A is one of the most frequently mutated genes with testis-biased expression and could be a good candidate for further functional validation at 3'UTR regions [PMC7778916].

Genome locations

Gene Ontology annotations

Sequence

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AUCUGUGCUGAGUUUUUCAAAGGUCAGAGCAGAUUGAACCAUUGUGGUUUCAUUUUCCCUGAUUUUGAUUUUUCUUAUGGGGAACCUGUGUGGCUGCAUUCAAGGUGACUCGAAGAAGCCUUCCAAAAAGCGUGUGAAAAGGAAGCCCUACUCUACCACCAAGGUGACUUCAGGGAGCACAUUCAAUGAGAAUAUAAGAAGAUAUGCUGUGCACACCAACCAGUGUAGGAGACCUCAUGGCUCCCGGGUAAAGAAGAAGAGGUACCCACAAGAAGAUGACUUCCAUCAUACAGUCUUCAGCAACCUUGAAAGAUUGGACAAGCUUCAGCCCACUCUUGAAGCCUCUGAGGAGUCUCUAGUUCACAAGGACAGAGGAGAUGGAGAGAGGCCAGUCAACGUGAGGGUGGUGCAGGUGGCCCCUCUGAGGCAUGAAUCUACUCCCCAUGAGGACACCGUACACAACAUCACUAACGAGGAUGCCUCACACGAUAUCACUAACGAGGACGCUGUCCACGGCAUCGCUAACGAGGCCGCCGACAAGGGCAACGCCAACGAGGACGCCGCCCAGGGCAUCGCCAACGAGGACGCCGCCCACGGAAUCGCCAGCGAGGACGCCGCCCAGGGCAUCGCCAACGAGGUCGCCGCCCAGGGCAUCGCCAACGAGGACGCCGCCCAGGGCAUCGCCAACGAGGACGCCGUCCAGGGCAUCGCCAACGAGGACGCCGCCCACGGCAUCGCCAACGAGGACGCUGCCCACGGCAUUGCUAACGAGGAUGCCGUGCACGGCAUCGCUAAUGAGGACUCCGUAUACGACAUCGCUAAUGAGGAUGCCAUAUAUGACAUCGCUAAUGACACCGUACAAGGCACGCUAAAGAGGACGCUGUACACGACAUCGCUAAUGAGGACACCAUACAAGGCAUUGGUAAUGAGGACGUUGUAUAUGACAUCGCUAACAAGGACACUCUACAAGCCGUCGCUAACAAGGACACUGUACACAACAUCGCUAAUGACGGCACCGUACAAGACAUCACCAAUGAGGGCGCUUUAUACGACAUUGCUAAUGAUACCGACAAGGCACGCUAACGCGGACACUGUACACGACAUCGCUAAUGAGGACUCCGUAUACCACAUCGCUAAUGAGGGUGCCGUAUAUGACAUCGCUAAUGACACCGUACAAGGCACGCUAACGAGGACGCUGUACACGACAUCGCUAAUGAGGACACCAUACAAGGCAUCGGUAAUGAGGACGCUGUAUACGACAUCGCUAACGAGGACACCAUACAAGCCGUCGCUAACAAGGACACUGUACACAACAUCGCUAAUGACGGCACCGUACAAGACAUCACCAAUGAGGGCGCUUUAUACGACAUUGCUAAUGAUACCGACAAGGCACGCUAACGUGGACGCUGUACACGACAUUGCUAAUGAGGACACCGUAUAAGACAUCGCUAGUAACUAUCGCAAGAACAAAAAACCAAACACCGCAUAUUCUCACUCAUAGGUGGGAAUUGAACAAUGAGAUCACAUGGACACAGGAAGGGGAAUAUCACAUUCUGGGGACUGUUGUGGGGUGGGGGGAGGGGGGAGGGAUAGCAUCGGGAGAUAUACCUAAUGCUAGAUGAUGAGUUAGUGGGUGCAGCGCACCAGCGUGGCACAUGUAUACAUAUGUAACUAACCUGCACAAUGUGCACAUGUACCCUAAAACUUAAAGUAUAUAUAAAAAAAAAAGACAUCGCUAGUGAGCACGCUGUAUACGACAUCGCUAAUGAGGACACCAUACAAGGCAUCGCUAACGAUGACGCUGUACACAACAUCACUAAUGAUGACACCGUAUAAGACAUCGCUAAUUAUGACGCUGUAUACGACAUCGCUAAUGACACCGUACGAGGCACGCUAACAAGGAUGCUGUACACAACAUCGCUAAUGAGGACAGUGUACAAGCCAUCGCUAAUGAGGACACUGUAUAUGACAUUGCUAACGAGGACACUGUACAAGGCAUUGCUAACGAGGACGCUGUACACAACAUCGCUAAUGAGGACACCAUAUAAGACAUCACCAAUGAGGAUGCUCUAUAUGACAUCGCUAAUGACACCCACAAGGCAUGCUAACGAGGACGCUGUAGACGACAUUGCUUAUAAGGACACCGUACAAGACAUCGCUAACGAGGACGCUGUAUACGACAUCGCUAAUGAGGACGUUGUAUAUGACAUCGCUAAUGAGGAUGCUUUACAAGACAUAGCGAAUGAGGUUGCUGUAUAUGACAUCGCUAAUGAGGACAUUGUAUAUGACAUCGCUAAUGAGGACGCUCUAUACGACAUCACUAAUGAGGACGCUGUAUACAACAUCGCUAAUGAGGACGCUGUAUAUGGCAUCGCUAAUGAGGAUGCUGUAUACGAAUUCGCUAAUAAGGACGCUGUAUAUGACAUUGCUAAUGAGGACACUGUACAAGACAUCUGUAAAAAAGAAGAUGCUGCCAAUGAGCCAUUGACACUGGAGAAUGAUACCUACCCUGAAAUAACUCACUUCCUGAGGAAAAAACGCCAUCUCUAGGAUUUGAUUGUGGAGAGCAUAUCUGAUGAUGGGGAUUUGUAGGACUUUAAAAAGCACUCAUGUUUCCAUCCUCACUGUUGACUCCUGGCUUAAAGGGAUCUCCCGGGGUGAGUGAGGAGGCGGGAUCGGACCCUGGCAGUCUGACGGCAGCACCUGUGUUCCUCUGCACUGGGCCGUGGAUGACAUUACACACCUUGCCACUCCCACGGUCCUGUGUGUUCCAGAUAUUUUAAAAUAAUGGCUAUAAGGCUGAGCACUUCAGGAUAUGCUGUUUUGCUGUGUGCAGAUGGAGGCAGUGGCUGGAGUGAAUGAACGGCAACACUUGCUGGCAACCGGCAGAAGCUGAGAGACAGGGAACAGGCUCUCCUCCAGAGCCUCCAGGAGCCAGGCCUUUGGACACCUUGAAUGUGGGCUUCUGGGAGACCAUGCGUUUCUGUUAUAAGCAGCCCAGUCUCUGGCAGUUUUUACGGCUGCCCCGGAACACUCAUCUAUACCUGUCUGACAAGGUCAAGCUCCAAGGAAGGGAUUCUCUACAUAUCUACAUUGUUUGCAGAUUUUACAAUAAUCAUUUAUUCUUGCAUGGCUGAUCAUUGUUAACCAAUACAAAUAAAAUAAUAAAGAAAUGACCCACAUUUU

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