Variant ID | 28824 |
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Entrez Gene ID | 23641 |
Gene | LDOC1 (GeneCards) |
Location | hg19 X:140453496-140453496
hg38 X:141359339-141359339 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000023.10:g.140453496 C>A (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NA |
mRNA length | NA |
Reference length | 155270560 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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CADD Raw score (version 1.3) | 0.029666 (Deleterious) |
FATHMM raw prediction score | 0.07722 (Tolerated) |
Deleterious probability by DeFine | 0.1093 (Neutral) |
Entrez Gene ID | 23641 (NCBI Gene) |
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Official Gene Symbol | LDOC1 (GeneCards) |
Number of variants in LDOC1 in this database | 2 (view all the variants) |
Full name | LDOC1, regulator of NFKB signaling |
Band | Xq27.1 |
Other IDs | Vega: OTTHUMG00000022558 OMIM: 300402 HGNC: HGNC:6548 Ensembl: ENSG00000182195 |
Other names | Mar7, RTL7, BCUR1, Mart7, SIRH7 |
Summary | The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq, Jul 2008] |
Individual ID | 29217587.02 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |