SAMD11 (sterile alpha motif domain containing 11)

2014-11-01 Affiliation

Identity

HGNC

SAMD11

LOCATION

1p36.33

LOCUSID

148398

ALIAS

MRS

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: 148398
MIM: 616765
HGNC: 28706
Ensembl: ENSG00000187634

Variants:

dbSNP: 148398
ClinVar: 148398
TCGA: ENSG00000187634
COSMIC: SAMD11

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000187634	ENST00000341065	H7BY14
ENSG00000187634	ENST00000342066	Q96NU1
ENSG00000187634	ENST00000420190	A6PWC8
ENSG00000187634	ENST00000437963	Q5SV95
ENSG00000187634	ENST00000455979	H7C3J6
ENSG00000187634	ENST00000616016	I7G285
ENSG00000187634	ENST00000616125	A0A087X223
ENSG00000187634	ENST00000617307	A0A087WYU3
ENSG00000187634	ENST00000618181	A0A087WXB3
ENSG00000187634	ENST00000618323	A0A087WX24
ENSG00000187634	ENST00000618779	A0A087X1J5
ENSG00000187634	ENST00000620200	A0A087X2A3
ENSG00000187634	ENST00000622503	A0A087WYW1

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

References

Pubmed ID	Year	Title	Citations
26204995	2015	Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.	20
23978614	2013	Identification and characterization of novel alternative splice variants of human SAMD11.	5
27734943	2016	Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.	3

Citation

Dessen P

SAMD11 (sterile alpha motif domain containing 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72963/samd11-(sterile-alpha-motif-domain-containing-11)