NHS (NHS actin remodeling regulator)

2018-07-01 Affiliation

Identity

HGNC

NHS

LOCATION

Xp22.2

LOCUSID

4810

ALIAS

CTRCT40,CXN,SCML1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4810
MIM: 300457
HGNC: 7820
Ensembl: ENSG00000188158

Variants:

dbSNP: 4810
ClinVar: 4810
TCGA: ENSG00000188158
COSMIC: NHS

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000188158	ENST00000380060	Q6T4R5
ENSG00000188158	ENST00000398097	Q6T4R5
ENSG00000188158	ENST00000615422	A0A087WWC4
ENSG00000188158	ENST00000617601	A0A087WU78
ENSG00000188158	ENST00000648929	A0A3B3ITB2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
32303606	2020	Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.	3
32303606	2020	Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.	3
30642278	2019	Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.	7
31755796	2019	Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.	3
30642278	2019	Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.	7
31755796	2019	Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.	3
28922055	2018	Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.	5
29402928	2018	A novel small deletion in the NHS gene associated with Nance-Horan syndrome.	7
28922055	2018	Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.	5
29402928	2018	A novel small deletion in the NHS gene associated with Nance-Horan syndrome.	7
28061824	2017	A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.	8
28464487	2017	A novel Xp22.13 microdeletion in Nance-Horan syndrome.	9
28557584	2017	NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.	6
28061824	2017	A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.	8
28464487	2017	A novel Xp22.13 microdeletion in Nance-Horan syndrome.	9

Citation

Dessen P

NHS (NHS actin remodeling regulator)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57511/haematological-explorer/gene-fusions/?id=57511