CSMD3 (CUB and Sushi multiple domains 3)

2009-09-01 Affiliation

Identity

HGNC

CSMD3

LOCATION

8q23.3

LOCUSID

114788

ALIAS

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: 114788
MIM: 608399
HGNC: 19291
Ensembl: ENSG00000164796

Variants:

dbSNP: 114788
ClinVar: 114788
TCGA: ENSG00000164796
COSMIC: CSMD3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000164796	ENST00000297405	Q7Z407
ENSG00000164796	ENST00000339701	H7BXX0
ENSG00000164796	ENST00000343508	Q7Z407
ENSG00000164796	ENST00000455883	Q7Z407

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
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
21351276	2010	Somatic mutations and germline sequence variants in patients with familial colorectal cancer.	18
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
21351276	2010	Somatic mutations and germline sequence variants in patients with familial colorectal cancer.	18
19528667	2009	Association of chromosome 8q variants with prostate cancer risk in Caucasian and Hispanic men.	23
19528667	2009	Association of chromosome 8q variants with prostate cancer risk in Caucasian and Hispanic men.	23
18270536	2008	Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.	18
18270536	2008	Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.	18
15523607	2004	Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.	7
15523607	2004	Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.	7
12906867	2003	Identification of two new members of the CSMD gene family.	21
12943675	2003	A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.	35
12906867	2003	Identification of two new members of the CSMD gene family.	21
12943675	2003	A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.	35

Citation

Dessen P

CSMD3 (CUB and Sushi multiple domains 3)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51059/teaching-explorer/css/lib/gene-fusions/?id=51059