CSMD1 (CUB and Sushi multiple domains 1)

2003-02-01 Affiliation

Identity

HGNC

CSMD1

LOCATION

8p23.2

LOCUSID

64478

ALIAS

PPP1R24

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: 64478
MIM: 608397
HGNC: 14026
Ensembl: ENSG00000183117

Variants:

dbSNP: 64478
ClinVar: 64478
TCGA: ENSG00000183117
COSMIC: CSMD1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000183117	ENST00000335551	H7BXU2
ENSG00000183117	ENST00000400186	F8W9C3
ENSG00000183117	ENST00000520002	E5RIG2
ENSG00000183117	ENST00000537824	F5GZ18
ENSG00000183117	ENST00000602557	E5RIG2
ENSG00000183117	ENST00000602723	F8W9C3
ENSG00000183117	ENST00000635120	Q96PZ7

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

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA131285527	oxaliplatin	Chemical	MultilinkAnnotation	associated		24444404
PA447288	Essential hypertension	Disease	ClinicalAnnotation	associated	PD
PA449899	hydrochlorothiazide	Chemical	ClinicalAnnotation	associated	PD

References

Pubmed ID	Year	Title	Citations
18519826	2008	Molecular genetics of successful smoking cessation: convergent genome-wide association study results.	130
19132087	2009	A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.	84
20953187	2010	Association analyses identify six new psoriasis susceptibility loci in the Chinese population.	84
19383911	2009	Analysis of DNA copy number alterations in ovarian serous tumors identifies new molecular genetic changes in low-grade and high-grade carcinomas.	77
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
16221525	2006	Common fragile sites, extremely large genes, neural development and cancer.	67
12874026	2003	Survival analysis of genome-wide gene expression profiles of prostate cancers identifies new prognostic targets of disease relapse.	62
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
16547280	2006	CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues.	59
21439553	2011	The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia.	58

Citation

Dessen P

CSMD1 (CUB and Sushi multiple domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40167/csmd1