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Human disease related genes
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UMAP gene cluster
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Keyword
Chromosome
1
2
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6
7
8
9
10
11
12
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MT
Unmapped
X
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External id
Variability
Variable
Not variable
Tissue
Any
Adipose tissue
Brain
Cartilage
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Lymphoid tissue
Male glands
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Mouth
Skin
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Stomach 1
Upper respiratory system
Cluster
1 - Brain neurotransmission
2 - Brain neurotransmission
3 - Brain cellular structure
4 - Brain development
5 - Intracellular signalling
6 - Brain uncharacterized
7 - Retinal
8 - Neurohormonal
9 - Testis spermatogenesis
10 - Housekeeping transcription
11 - Testis uncharacterized
12 - Metabolic
13 - Testis sperm
14 - Low abundant uncharacterized
15 - Testis uncharacterized
16 - Aorta uncharacterized
17 - Cilium structure
18 - Low abundant uncharacterized
19 - Housekeeping mitochondrial
20 - Hormonal
21 - Low abundant uncharacterized
22 - Housekeeping transcription
23 - Cilium structure
24 - Low abundant uncharacterized
25 - Low abundant uncharacterized
26 - Low abundant uncharacterized
27 - Low abundant uncharacterized
28 - Housekeeping mitochondrial translation
29 - Male tissue bacterial defense
30 - Housekeeping structural
31 - Housekeeping uncharacterized
32 - Transport
33 - Lens
34 - Prostate uncharacterized
35 - Low abundant uncharacterized
36 - Receptors uncharacterized
37 - Olfactory bulb
38 - Lung and thyroid development
39 - Kidney transport
40 - Testis
41 - Low abundant uncharacterized
42 - Low abundant uncharacterized
43 - Breast uncharacterized
44 - Housekeeping
45 - Thymus uncharacterized
46 - Skeletal muscle contraction
47 - Spleen uncharacterized
48 - Low abundant uncharacterized
49 - Heart contraction
50 - Muscle contraction
51 - Liver and kidney
52 - Housekeeping
53 - Housekeeping mitochondrial
54 - Interferons
55 - Low abundant uncharacterized
56 - Low abundant uncharacterized
57 - Skin
58 - Immune cells
59 - Squamous epithelium
60 - Not detected
61 - Enzymes and secretion
62 - Squamous epithelium
63 - Small intestine
64 - Gastrointestinal
65 - Epithelium
66 - Housekeeping mRNA
67 - Gastrointestinal
68 - Housekeeping protein processing
69 - Housekeeping
70 - Housekeeping
71 - Housekeeping regulation
72 - Digestive and respiratory defense
73 - Housekeeping cell cycle
74 - Extracellular matrix
75 - Housekeeping
76 - Housekeeping regulation
77 - Housekeeping defense
78 - Lymphoid T cells
79 - Lymphoid myeloid
80 - Heart uncharacterized
81 - Vasculature and connective tissue
82 - Lymphoid B cell
83 - Not detected
84 - Epithelium transcription regulation
Tissue group
Any
Adipose tissue
Adrenal gland
Aorta
Bone marrow
Brain
Breast
Cartilage
Cervix
Choroid plexus
Cornea
Ductus deferens
Dura mater
Endometrium
Epididymis
Esophagus
Fallopian tube
Gallbladder
Heart
Kidney
Large intestine
Lens
Liver
Lung
Lymphoid tissue
Male glands
Mesothelial tissue
Mouth
Ovary
Penis
Pineal gland
Pituitary gland
Retina
Salivary gland
Skeletal muscle
Skin
Small intestine
Smooth muscle
Stomach
Synovial tissue
Testis
Thyroid gland
Upper respiratory system
Urinary bladder
Vagus nerve
Category
Tissue enriched
Group enriched
Tissue enhanced
Low tissue specificity
Not detected
Detected in all
Detected in many
Detected in some
Detected in single
Is highest expressed
Brain region
Any
Amygdala
Basal ganglia
Cerebellum
Cerebral cortex
Corpus callosum
Hippocampal formation
Hypothalamus
Midbrain
Olfactory region
Pituitary gland
Pons and medulla
Retina
Spinal cord
Thalamus
Category
Region enriched
Group enriched
Region enhanced
Low region specificity
Not detected
Detected in all
Detected in many
Detected in some
Detected in single
Is highest expressed
Column
Gene
Position
Tissue specific score
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850 GENES FOUND
Gene
Gene
i
Gene name, if available.
Gene synonym (Human ortholog)
Ensembl gene id
Ensembl gene id (Proteincoding human ortholog)
Gene description
Uniprot accession (Human ortholog)
Chromosome
Chromosome position
Related human disease
RNA category pig
RNA pig tissue group specificity
RNA pig tissue group distribution
RNA pig tissue group specificity score
RNA pig tissue group specific NX
RNA pig brain regional specificity
RNA pig brain regional distribution
RNA pig brain regional specificity score
RNA pig brain regional specific pTPM
Annotation
UMAP cluster
Within tissue variation
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1.
Select data columns:
Gene
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Gene
i
Gene name, if available.
Gene synonym (Human ortholog)
Ensembl gene id
Ensembl gene id (Proteincoding human ortholog)
Gene description
Uniprot accession (Human ortholog)
Chromosome
Chromosome position
Related human disease
RNA category pig
Expand
RNA pig tissue group specificity
RNA pig tissue group distribution
RNA pig tissue group specificity score
RNA pig tissue group specific NX
RNA pig brain regional specificity
RNA pig brain regional distribution
RNA pig brain regional specificity score
RNA pig brain regional specific pTPM
Annotation
Expand
UMAP cluster
Within tissue variation
Pig Tissue RNA
Expand
Abdominal adipose tissue [NX]
Adrenal gland [NX]
Amygdala [NX]
Aorta [NX]
Bone marrow [NX]
Breast [NX]
Bronchus [NX]
Bulbourethral gland [NX]
Caudate [NX]
Cecum [NX]
Cerebellum [NX]
Cervix [NX]
Choroid plexus [NX]
Cingulate cortex [NX]
Colon [NX]
Cornea [NX]
Corpus callosum [NX]
Dorsal hippocampus [NX]
Dorsal spinal cord [NX]
Ductus deferens [NX]
Duodenum [NX]
Dura mater [NX]
Ear cartilage [NX]
Endometrium 1 [NX]
Entorhinal cortex [NX]
Epididymis [NX]
Esophagus [NX]
Facial adipose tissue [NX]
Fallopian tube [NX]
Gallbladder [NX]
Heart atrium [NX]
Heart valve [NX]
Heart wall [NX]
Hypothalamus [NX]
Ileum [NX]
Insular cortex [NX]
Jejunum [NX]
Joint cartilage [NX]
Kidney (cortex) [NX]
Kidney (medulla) [NX]
Larynx [NX]
Lens [NX]
Lip [NX]
Liver [NX]
Lung [NX]
Lymph node [NX]
Medulla [NX]
Midbrain [NX]
Motor cortex [NX]
Nasopharynx epithelium [NX]
Occipital cortex [NX]
Olfactory bulb [NX]
Olfactory epithelium [NX]
Oral mucosa [NX]
Ovary [NX]
Penis [NX]
Periaqueductal gray [NX]
Peritoneum [NX]
Pineal gland [NX]
Pituitary gland [NX]
Pleura [NX]
Pons [NX]
Prefrontal cortex [NX]
Prostate [NX]
Putamen [NX]
Rectum [NX]
Retina [NX]
Retrosplenial cortex [NX]
Salivary gland [NX]
Seminal vesicle [NX]
Septum [NX]
Skeletal muscle [NX]
Skin (back) [NX]
Skin (groin) [NX]
Smooth muscle (intestine) [NX]
Somatosensory cortex [NX]
Spleen [NX]
Stomach (lower) [NX]
Stomach (upper) [NX]
Subcutaneous adipose tissue [NX]
Subiculum [NX]
Substantia nigra [NX]
Superior colliculi [NX]
Synovial tissue [NX]
Temporal cortex [NX]
Testis [NX]
Thalamus [NX]
Thymus [NX]
Thyroid gland [NX]
Tongue [NX]
Tonsil [NX]
Trachea [NX]
Urethral gland [NX]
Urinary bladder [NX]
Vagus nerve [NX]
Ventral hippocampus [NX]
Ventral pallidum [NX]
Ventral spinal cord [NX]
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Gene
i
Gene name, if available.
Ensembl
x
Human ortholog
x
Gene description
x
RNA pig tissue group specificity
x
RNA pig tissue group distribution
x
RNA pig tissue group specific NX
x
CCT5
ENSSSCG00000024126
ENSG00000150753
T-complex protein 1 subunit epsilon
Low tissue specificity
Detected in all
CD164
ENSSSCG00000004414
ENSG00000135535
CD164 molecule
Tissue enriched
Detected in all
male glands:
185.5
CDC14A
ENSSSCG00000006864
ENSG00000079335
Cell division cycle 14A
Low tissue specificity
Detected in all
CDHR1
ENSSSCG00000010348
ENSG00000148600
Cadherin related family member 1
Group enriched
Detected in many
brain:
22.3
pineal gland:
24.1
retina:
71.5
CDKL5
ENSSSCG00000012156
ENSG00000008086
Cyclin dependent kinase like 5
Tissue enhanced
Detected in all
brain:
34.8
CEACAM16
ENSSSCG00000003081
ENSG00000213892
Carcinoembryonic antigen related cell adhesion molecule 16
Tissue enhanced
Detected in many
kidney:
16.8
CEP290
ENSSSCG00000000926
ENSG00000198707
Centrosomal protein 290
Low tissue specificity
Detected in all
CEP78
ENSSSCG00000005286
ENSG00000148019
Centrosomal protein 78
Low tissue specificity
Detected in all
CERKL
ENSSSCG00000016010
ENSG00000188452
Ceramide kinase like
Tissue enhanced
Detected in some
fallopian tube:
15.5
pineal gland:
42.1
retina:
36.9
CHAT
ENSSSCG00000010392
ENSG00000070748
Choline O-acetyltransferase
Tissue enhanced
Detected in all
brain:
14.4
cornea:
23.6
CHCHD10
ENSSSCG00000010073
ENSG00000250479
Coiled-coil-helix-coiled-coil-helix domain containing 10
Tissue enhanced
Detected in all
heart:
175.7
skeletal muscle:
132.4
CHD2
ENSSSCG00000002266
ENSG00000173575
Chromodomain helicase DNA binding protein 2
Low tissue specificity
Detected in all
CHM
ENSSSCG00000012463
ENSG00000188419
CHM, Rab escort protein 1
Tissue enhanced
Detected in all
lens:
51.9
CHMP1A
ENSSSCG00000023677
ENSG00000131165
Charged multivesicular body protein 1a
Low tissue specificity
Detected in all
CHMP2B
ENSSSCG00000011997
ENSG00000083937
Charged multivesicular body protein 2b
Low tissue specificity
Detected in all
CHMP4B
ENSSSCG00000007272
ENSG00000101421
Charged multivesicular body protein 4B
Low tissue specificity
Detected in all
CHRDL1
ENSSSCG00000012576
ENSG00000101938
Chordin like 1
Tissue enhanced
Detected in many
lens:
58.7
CHRNA1
ENSSSCG00000015969
ENSG00000138435
Cholinergic receptor nicotinic alpha 1 subunit
Low tissue specificity
Detected in all
CHRNA2
ENSSSCG00000009665
ENSG00000120903
Cholinergic receptor nicotinic alpha 2 subunit
Tissue enhanced
Detected in many
brain:
21.7
liver:
13.8
CHRNA4
ENSSSCG00000039677
ENSG00000101204
Cholinergic receptor nicotinic alpha 4 subunit
Group enriched
Detected in some
adipose tissue:
6.7
brain:
24.4
kidney:
14.7
retina:
12.2
CHRNB1
ENSSSCG00000030263
ENSG00000170175
Cholinergic receptor nicotinic beta 1 subunit
Low tissue specificity
Detected in all
CHRNB2
ENSSSCG00000006545
ENSG00000160716
Cholinergic receptor nicotinic beta 2 subunit
Group enriched
Detected in some
brain:
23.2
retina:
11.7
CHRND
ENSSSCG00000016287
ENSG00000135902
Cholinergic receptor nicotinic delta subunit
Group enriched
Detected in some
brain:
2.9
male glands:
4.1
mouth:
6.1
skeletal muscle:
5.1
CHRNE
ENSSSCG00000017909
ENSG00000108556
Cholinergic receptor nicotinic epsilon subunit
Tissue enhanced
Detected in many
brain:
9.4
mouth:
11.3
salivary gland:
11.4
skeletal muscle:
17.4
CLCN2
ENSSSCG00000021581
ENSG00000114859
Chloride voltage-gated channel 2
Tissue enhanced
Detected in many
large intestine:
24.6
vagus nerve:
28.5
CLDN14
ENSSSCG00000020680
ENSG00000159261
Claudin-14
Tissue enriched
Detected in some
liver:
60.1
CLIC5
ENSSSCG00000037416
ENSG00000112782
Chloride intracellular channel 5
Tissue enriched
Detected in many
lens:
235.3
CLP1
ENSSSCG00000031442
ENSG00000172409
Cleavage and polyadenylation factor I subunit 1
Low tissue specificity
Detected in all
CNGA1
ENSSSCG00000038160
ENSG00000198515
Cyclic nucleotide gated channel alpha 1
Tissue enriched
Detected in some
retina:
72.5
CNGA3
ENSSSCG00000027113
ENSG00000144191
Cyclic nucleotide gated channel alpha 3
Tissue enhanced
Detected in many
retina:
15.1
skin:
20.3
smooth muscle:
19.4
CNGB1
ENSSSCG00000002811
ENSG00000070729
Cyclic nucleotide gated channel beta 1
Tissue enriched
Detected in some
retina:
71.5
CNGB3
ENSSSCG00000006134
ENSG00000170289
Cyclic nucleotide gated channel beta 3
Tissue enriched
Detected in some
pineal gland:
110.0
CNNM2
ENSSSCG00000010593
ENSG00000148842
Cyclin and CBS domain divalent metal cation transport mediator 2
Tissue enhanced
Detected in all
choroid plexus:
62.9
CNNM4
ENSSSCG00000008202
ENSG00000158158
Cyclin and CBS domain divalent metal cation transport mediator 4
Tissue enhanced
Detected in all
large intestine:
40.1
CNPY3
ENSSSCG00000001651
ENSG00000137161
Protein canopy homolog 3
Low tissue specificity
Detected in all
CNTN2
ENSSSCG00000040824
ENSG00000184144
Contactin 2
Tissue enriched
Detected in some
brain:
54.9
CNTNAP1
ENSSSCG00000017393
ENSG00000108797
Contactin associated protein 1
Tissue enhanced
Detected in many
brain:
35.3
pineal gland:
17.0
COASY
ENSSSCG00000017398
ENSG00000068120
Bifunctional coenzyme A synthase Phosphopantetheine adenylyltransferase Dephospho-CoA kinase
Low tissue specificity
Detected in all
COCH
ENSSSCG00000022679
ENSG00000100473
Cochlin
Tissue enriched
Detected in some
cartilage:
173.1
COL11A1
ENSSSCG00000006857
ENSG00000060718
Collagen type XI alpha 1 chain
Tissue enriched
Detected in many
cartilage:
170.9
COL11A2
ENSSSCG00000001473
ENSG00000204248
Collagen type XI alpha 2 chain
Tissue enriched
Detected in some
cartilage:
294.3
COL13A1
ENSSSCG00000010256
ENSG00000197467
Collagen type XIII alpha 1 chain
Tissue enhanced
Detected in many
cervix:
36.3
COL18A1
ENSSSCG00000038089
ENSG00000182871
Collagen type XVIII alpha 1 chain
Tissue enhanced
Detected in many
liver:
94.5
COL2A1
ENSSSCG00000025523
ENSG00000139219
Collagen type II alpha 1 chain
Tissue enriched
Detected in some
cartilage:
1246.4
COL6A3
ENSSSCG00000027331
ENSG00000163359
Collagen type VI alpha 3 chain
Tissue enhanced
Detected in many
cornea:
101.7
COL8A2
ENSSSCG00000033641
ENSG00000171812
Collagen type VIII alpha 2 chain
Tissue enhanced
Detected in many
cornea:
73.0
dura mater:
18.9
COLQ
ENSSSCG00000028911
ENSG00000206561
Collagen like tail subunit of asymmetric acetylcholinesterase
Tissue enhanced
Detected in many
kidney:
19.9
COQ2
ENSSSCG00000009238
ENSG00000173085
Coenzyme Q2, polyprenyltransferase
Low tissue specificity
Detected in all
COQ4
ENSSSCG00000005646
ENSG00000167113
Coenzyme Q4
Low tissue specificity
Detected in all
COQ6
ENSSSCG00000002354
ENSG00000119723
Coenzyme Q6, monooxygenase
Low tissue specificity
Detected in all
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