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LOC100130691 Putative uncharacterized protein FLJ44553 [ Homo sapiens (human) ]

Gene ID: 100130691, updated on 10-Oct-2023

Summary

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Gene symbol
LOC100130691
Gene description
Putative uncharacterized protein FLJ44553
See related
Ensembl:ENSG00000213963
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Biased expression in kidney (RPKM 6.7), skin (RPKM 2.9) and 5 other tissues See more
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Genomic context

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Location:
2q31.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (177283508..177392691, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (177765753..177874965, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (178148236..178257419, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 5 Neighboring gene NFE2 like bZIP transcription factor 2 Neighboring gene Sharpr-MPRA regulatory region 4724 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:178127429-178128628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12145 Neighboring gene microRNA 3128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16796 Neighboring gene microRNA 6512 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:178202734-178203933 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12146 Neighboring gene H3 histone pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12147 Neighboring gene Sharpr-MPRA regulatory region 2066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:178261250-178261750 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:178275762-178275927 Neighboring gene alkylglycerone phosphate synthase Neighboring gene MPRA-validated peak3947 silencer Neighboring gene uncharacterized LOC105373762 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:178338764-178339963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178416524-178417328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178417329-178418132 Neighboring gene intraflagellar transport 70B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

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 studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: NFE2L2

Clone Names

  • FLJ44553, AC074286.1, DKFZp451M2119, DKFZp686G13152

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.

RNA

  1. NR_026966.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC019080, AC079305, AK126517, AL833088
    Related
    ENST00000397057.6

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    177283508..177392691 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    177765753..177874965 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_182585.1: Suppressed sequence

    Description
    NM_182585.1: This RefSeq was permanently suppressed because there is support for the transcript but the predicted protein is not supported by current protein homology data.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86TA4.2 GenPept UniProtKB/Swiss-Prot:Q86TA4

Gene LinkOut

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