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LOC107984974 SMAD specific E3 ubiquitin protein ligase 2 (SMURF2) pseudogene [ Homo sapiens (human) ]

Gene ID: 107984974, updated on 8-Nov-2023

Summary

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Gene symbol
LOC107984974
Gene description
SMAD specific E3 ubiquitin protein ligase 2 (SMURF2) pseudogene
See related
Ensembl:ENSG00000291063
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in ovary (RPKM 261.7), bone marrow (RPKM 159.5) and 25 other tissues See more
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Genomic context

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Location:
17q11.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (31008579..31046832)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31954300..31992547)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29335597..29373850)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8405 Neighboring gene RNA, 7SL, cytoplasmic 138, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12005 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29297471-29298032 Neighboring gene ring finger protein 135 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29298033-29298594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12007 Neighboring gene divergent-paired related homeobox pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29335291-29335792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8407 Neighboring gene leucine rich repeat containing 37B pseudogene Neighboring gene NF1-REPb PRS3 recombination region Neighboring gene uncharacterized LOC124903974 Neighboring gene NF1 (neurofibromin 1) promoter region Neighboring gene MIR4733 host gene Neighboring gene microRNA 4733

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. RNF135 mutations are not present in patients with Sotos syndrome-like features. Visser R, et al. Am J Med Genet A, 2009 Feb 15. PMID 19291764
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: RNF135 mutations are not present in patients with Sotos syndrome-like features.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Genotypes

General gene information

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Clone Names

  • MGC70830

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_171379.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC138207
    Related
    ENST00000687724.1

  2. NR_171380.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC138207

  3. NR_171381.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC138207

  4. NR_171382.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC138207

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    31008579..31046832
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791803.1 Reference GRCh38.p14 PATCHES

    Range
    87753..126006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    31954300..31992547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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