WHSC1

GENERAL INFORMATION

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Gene name

WHSC1

Gene description

Wolf-Hirschhorn syndrome candidate 1

Protein class

Cancer-related genes
Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

14
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General nuclear expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 3 antibodies.
HPA015801 , CAB068246 , CAB068247
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Esophagus

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

WHSC1 (HGNC Symbol)

Synonyms

MMSET, NSD2

Description

Wolf-Hirschhorn syndrome candidate 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]

Chromosome

4

Cytoband

p16.3

Chromosome location (bp)

1871424 - 1982207

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000109685 (version 78.38)

Entrez gene

7468

UniProt

O96028 (UniProt - Evidence at protein level)

neXtProt

NX_O96028

Antibodypedia

WHSC1 antibodies


PROTEIN BROWSER

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ENST00000382888
 
ENST00000382891
 
ENST00000382892
 
ENST00000382895
 
ENST00000398261
 
ENST00000420906
 
ENST00000436793
 
ENST00000503128
 
ENST00000507820
 
ENST00000508803
 
ENST00000509115
 
ENST00000514045
 
ENST00000514329
 
ENST00000515806
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

WHSC1-004 ENSP00000425761
ENST00000503128
O96028
Show all »
Show » Show » 647 71.4 No 0
WHSC1-005 ENSP00000372344
ENST00000382888
O96028
Show all »
Show » Show » 713 80.8 No 0
WHSC1-006 ENSP00000399251
ENST00000420906
O96028
Show all »
Show » Show » 629 69.4 No 0
WHSC1-008 ENSP00000372351
ENST00000382895
O96028
Show all »
Show » Show » 1365 152.3 No 0
WHSC1-010 ENSP00000421681
ENST00000514045
O96028
Show all »
Show » Show » 629 69.4 No 0
WHSC1-011 ENSP00000423972
ENST00000508803
O96028
Show all »
Show » Show » 1365 152.3 No 0
WHSC1-013 ENSP00000421551
ENST00000507820
D6RFE7
Show all »
Show » 37 4 No 0
WHSC1-014 ENSP00000427434
ENST00000515806
D6RIS1
Show all »
Show » Show » 199 21.7 No 0
WHSC1-015 ENSP00000422878
ENST00000509115
D6R9V2
Show all »
Show » Show » 392 43.2 No 0
WHSC1-024 ENSP00000425094
ENST00000514329
Show » Show » 284 31.2 No 0
WHSC1-201 ENSP00000372347
ENST00000382891
O96028
Show all »
Show » Show » 1365 152.3 No 0
WHSC1-202 ENSP00000372348
ENST00000382892
O96028
Show all »
Show » Show » 1365 152.3 No 0
WHSC1-203 ENSP00000381311
ENST00000398261
O96028
Show all »
Show » Show » 647 71.4 No 0
WHSC1-204 ENSP00000416725
ENST00000436793
O96028
Show all »
Show » Show » 273 30.2 No 0