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FAM246C family with sequence similarity 246 member C (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 117134596, updated on 19-Mar-2024

Summary

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Official Symbol
FAM246Cprovided by HGNC
Official Full Name
family with sequence similarity 246 member C (gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:54842
See related
Ensembl:ENSG00000286025
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Annotation information
Annotation category: suggests misassembly
Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Orthologs
all
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Genomic context

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See FAM246C in Genome Data Viewer
Location:
22q11.21
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19029524..19030221)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19404891..19405586)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19017037..19017734)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene proline dehydrogenase 1 Neighboring gene uncharacterized LOC122455341 Neighboring gene human-specific endogenous retroviral insert PRODH enhancer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18934751-18935496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18945292-18945809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18957062-18957893 Neighboring gene DiGeorge syndrome critical region gene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:18985578-18985746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19005353-19005854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19007165-19007664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19024185-19024805 Neighboring gene CA15 pseudogene 1 Neighboring gene DiGeorge syndrome critical region gene 2 Neighboring gene DiGeorge syndrome critical region gene 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Homology

General protein information

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Preferred Names
protein FAM246C

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001396027.1 → NP_001382956.1  protein FAM246C

    Status: VALIDATED

    Description
    Transcript Variant: This transcript contains two, common, single nucleotide deletions relative to the GRCh38 reference assembly. This transcript encodes a protein of 231 aa.
    Source sequence(s)
    CP068256
    Related
    ENSP00000498832.1, ENST00000652053.1

RNA

  1. NR_173148.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This transcript matches the GRCh38 reference assembly. Compared to other members of the FAM246 gene family, it has a premature stop codon which makes it a non-coding transcript.
    Source sequence(s)
    AC000095

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    19029524..19030221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    19404891..19405586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_075640.1: Suppressed sequence

    Description
    NG_075640.1: This RefSeq was removed because it is now thought that this gene does encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DSO1.1 GenPept UniProtKB/Swiss-Prot:P0DSO1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases
Research Materials