dyskeratosis congenita 1, dyskerin

Synonym

Nopp140-associated protein of 57 kDa, dyskeratosis congenita 1, dyskerin, DKC1, Dyskerin, CBF5 homolog, NAP57, Nucleolar protein NAP57, snoRNP protein DKC1, XAP101, dyskerin, Nucleolar protein family A member 4, H/ACA ribonucleoprotein complex subunit 4, DKC, NOLA4

normal 40 tissues
cell lines, primary cells, adult tissues and fetal tissues (FANTOM5 CAGE)

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain

blood

connective

EST

cerebrum:192

cerebellum:176.30

brain stem:-

corpus callosum/glia:204.10

pineal gland:-

peripheral nerve:-

spine:112.30

retina:-

eye:82.30

artery/aorta:119.90

vein:133.30

lymphnode:80.90

peripheral blood:564.80

spleen:264.70

thymus:219

bone marrow:157.40

adipose:242

bone:179.10

skin:153.60

GeneChip

cerebrum:5.88

cerebellum:6.08

brain stem:5.91

corpus callosum/glia:6.05

pineal gland:-

peripheral nerve:5.91

spine:6

retina:-

eye:-

artery/aorta:6.10

vein:6.02

lymphnode:6.56

peripheral blood:-

spleen:6.54

thymus:7.39

bone marrow:6.86

adipose:6.20

bone:-

skin:6.90

CAGE

cerebrum:3.29

cerebellum:-

brain stem:3.21

corpus callosum/glia:3.17

pineal gland:4.08

peripheral nerve:-

spine:3.60

retina:-

eye:-

artery/aorta:3.40

vein:3.46

lymphnode:3.67

peripheral blood:-

spleen:3.64

thymus:3.68

bone marrow:-

adipose:3.08

bone:-

skin:-

RNA-seq

cerebrum:0.00

cerebellum:-

brain stem:-

corpus callosum/glia:-

pineal gland:-

peripheral nerve:-

spine:-

retina:-

eye:-

artery/aorta:-

vein:-

lymphnode:1.62

peripheral blood:-

spleen:-

thymus:-

bone marrow:-

adipose:0.00

bone:-

skin:-

reproductive

muscular

alimentary

liver

lung

urinary

endo/exo-crine

EST

uterus:136.70

placenta:236.80

prostate:202.80

ovary:74.50

testis:60.60

heart:76.60

muscle:40.20

esophagus:342.80

stomach:63.70

intestine:291.60

colon:59.40

liver/hepato:158.30

lung:78.20

bladder:-

kidney:145.60

pituitary:-

thyroid/parathyroid:655

adrenal gland:355.50

pancreas:62.20

breast:37.20

salivary:328.40

GeneChip

uterus:6.66

placenta:6.60

prostate:6.93

ovary:7.01

testis:6.91

heart:5.97

muscle:6.19

esophagus:6.56

stomach:6.33

intestine:6.57

colon:6.38

liver/hepato:5.79

lung:6.02

bladder:-

kidney:5.99

pituitary:6.32

thyroid/parathyroid:6.52

adrenal gland:5.97

pancreas:6.40

breast:6.68

salivary:6.16

CAGE

uterus:3.39

placenta:3.31

prostate:3.34

ovary:3.54

testis:3.71

heart:3.56

muscle:3.91

esophagus:3.48

stomach:-

intestine:3.18

colon:3.25

liver/hepato:3.38

lung:3.04

bladder:3.21

kidney:3.13

pituitary:3.64

thyroid/parathyroid:3.63

adrenal gland:-

pancreas:3.93

breast:3.35

salivary:3.58

RNA-seq

uterus:-

placenta:-

prostate:0.00

ovary:0.00

testis:0.00

heart:0.00

muscle:0.00

esophagus:-

stomach:-

intestine:-

colon:0.00

liver/hepato:0.00

lung:0.00

bladder:-

kidney:1.11

pituitary:-

thyroid/parathyroid:0.00

adrenal gland:0.00

pancreas:-

breast:0.00

salivary:-

IDs

Refseq ID	NM_001142463
Gene ID	1736
Unigene ID	Hs.474705
Probe set ID	201478_s_at [HG-U133_Plus_2]
Ensembl ID	ENSG00000130826
GTEx ID	ENSG00000130826

Orthologous Gene

Mouse[1]	NM_001030307
Rat[1]	NM_001030307

Chromosomal Region

Xq28 [153,991,031 - 154,005,964]

Search genes near this gene
- Between -5kb and +5kb
- Between -10kb and +10kb

LRG_55 [5,001 - 19,934]

Search genes near this gene
- Between -5kb and +5kb
- Between -10kb and +10kb

Gene Family (Interpro ID)

IPR002478	Pseudouridine synthase/archaeosine transglycosylase
IPR015947	Pseudouridine synthase/archaeosine transglycosylase-like
IPR004521	Uncharacterised domain 2

Gene Ontology (GO ID)

Biological Process

GO:0008283	cell proliferation
GO:0001522	pseudouridine synthesis
GO:0006396	RNA processing
GO:0006364	rRNA processing
GO:0000723	telomere maintenance
GO:0007004	telomere maintenance via telomerase

Cellular Component

GO:0015030	Cajal body
GO:0005737	cytoplasm
GO:0005730	nucleolus
GO:0005654	nucleoplasm
GO:0005634	nucleus
GO:0005697	telomerase holoenzyme complex

Molecular Function

GO:0005515	protein binding
GO:0009982	pseudouridine synthase activity
GO:0003723	RNA binding
GO:0003720	telomerase activity

dyskeratosis congenita 1, dyskerin

Synonym

Expression Pattern

Choropleth map on BodyParts3D

Classification in 40 Organs

Gene Information

IDs

Orthologous Gene

Chromosomal Region

Gene Family (Interpro ID)

Link to Pubmed (Pubmed ID)

Gene Ontology (GO ID)

Biological Process

Cellular Component

Molecular Function