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Human disease related genes
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UMAP gene cluster
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Subclass
Class
Biological process
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Keyword
Chromosome
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
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18
MT
Unmapped
X
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External id
Variability
Variable
Not variable
Tissue
Any
Adipose tissue
Brain
Cartilage
Heart
Kidney
Large intestine
Lymphoid tissue
Male glands
Mesothelial tissue
Mouth
Skin
Small intestine
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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THE PIG PROTEOME
THE PIG ATLAS
TISSUE SPECIFIC PROTEOME
UMAP GENE CLUSTERING
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658 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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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
BTD
ENSSSCG00000011193
ENSG00000169814
Biotinidase
Low tissue specificity
Detected in all
C12orf65
ENSSSCG00000009774
ENSG00000130921
Chromosome 12 open reading frame 65
Low tissue specificity
Detected in all
C8orf37
ENSSSCG00000034398
ENSG00000156172
Chromosome 8 open reading frame 37
Low tissue specificity
Detected in all
CA12
ENSSSCG00000004565
ENSG00000074410
Carbonic anhydrase 12
Tissue enhanced
Detected in many
kidney:
102.2
large intestine:
56.6
male glands:
36.5
CA5A
ENSSSCG00000035629
ENSG00000174990
Carbonic anhydrase 5A
Tissue enriched
Detected in some
liver:
65.5
CACNA1S
ENSSSCG00000024784
ENSG00000081248
Calcium voltage-gated channel subunit alpha1 S
Tissue enriched
Detected in some
skeletal muscle:
92.9
CAD
ENSSSCG00000028978
ENSG00000084774
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Low tissue specificity
Detected in all
CARS2
ENSSSCG00000031757
ENSG00000134905
Cysteinyl-tRNA synthetase 2, mitochondrial
Low tissue specificity
Detected in all
CASR
ENSSSCG00000011878
ENSG00000036828
Extracellular calcium-sensing receptor
Tissue enhanced
Detected in all
kidney:
24.5
pituitary gland:
23.8
CAT
ENSSSCG00000013302
ENSG00000121691
Catalase
Tissue enhanced
Detected in many
liver:
269.9
CAV1
ENSSSCG00000016634
ENSG00000105974
Caveolin-1 isoform a
Tissue enhanced
Detected in many
penis:
98.1
CAV3
ENSSSCG00000040643
ENSG00000182533
Caveolin-3
Tissue enhanced
Detected in some
heart:
35.4
skeletal muscle:
41.0
synovial tissue:
10.2
CAVIN1
ENSSSCG00000035446
ENSG00000177469
Caveolae associated protein 1
Low tissue specificity
Detected in many
CCDC115
ENSSSCG00000035628
ENSG00000136710
Coiled-coil domain containing 115
Low tissue specificity
Detected in all
CEP290
ENSSSCG00000000926
ENSG00000198707
Centrosomal protein 290
Low tissue specificity
Detected in all
CFTR
ENSSSCG00000016626
ENSG00000001626
Cystic fibrosis transmembrane conductance regulator
Tissue enhanced
Detected in many
large intestine:
16.2
small intestine:
43.3
CHSY1
ENSSSCG00000004825
ENSG00000131873
Chondroitin sulfate synthase 1
Low tissue specificity
Detected in all
CIDEC
ENSSSCG00000011557
ENSG00000187288
Cell death activator CIDE-3
Tissue enhanced
Detected in all
adipose tissue:
91.0
aorta:
46.0
bone marrow:
48.0
CLCN5
ENSSSCG00000023026
ENSG00000171365
H(+)/Cl(-) exchange transporter 5
Tissue enhanced
Detected in many
kidney:
46.2
CLDN16
ENSSSCG00000024788
ENSG00000113946
Claudin-16
Tissue enriched
Detected in single
kidney:
19.2
CLDN19
ENSSSCG00000034921
ENSG00000164007
Claudin-19
Tissue enhanced
Detected in all
kidney:
22.5
vagus nerve:
79.4
CLN6
ENSSSCG00000004957
ENSG00000128973
Ceroid-lipofuscinosis neuronal protein 6
Low tissue specificity
Detected in all
CLPB
ENSSSCG00000036887
ENSG00000162129
ClpB homolog, mitochondrial AAA ATPase chaperonin
Tissue enriched
Detected in all
testis:
84.4
CNNM2
ENSSSCG00000010593
ENSG00000148842
Cyclin and CBS domain divalent metal cation transport mediator 2
Tissue enhanced
Detected in all
choroid plexus:
62.9
COG1
ENSSSCG00000017248
ENSG00000166685
Component of oligomeric golgi complex 1
Low tissue specificity
Detected in all
COG2
ENSSSCG00000010183
ENSG00000135775
Component of oligomeric golgi complex 2
Low tissue specificity
Detected in all
COG4
ENSSSCG00000027973
ENSG00000103051
Conserved oligomeric Golgi complex subunit 4
Low tissue specificity
Detected in all
COG5
ENSSSCG00000037556
ENSG00000164597
Component of oligomeric golgi complex 5
Tissue enhanced
Detected in all
lens:
49.9
COG6
ENSSSCG00000009369
ENSG00000133103
Component of oligomeric golgi complex 6
Low tissue specificity
Detected in all
COG7
ENSSSCG00000010799
ENSG00000168434
Component of oligomeric golgi complex 7
Low tissue specificity
Detected in all
COX1
ENSSSCG00000018075
ENSG00000198804
Cytochrome c oxidase subunit 1
Tissue enhanced
Detected in all
heart:
2782.5
COX10
ENSSSCG00000018023
ENSG00000006695
COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
Low tissue specificity
Detected in all
COX15
ENSSSCG00000010541
ENSG00000014919
COX15, cytochrome c oxidase assembly homolog
Low tissue specificity
Detected in all
COX2
ENSSSCG00000018078
ENSG00000198712
Cytochrome c oxidase subunit II (mitochondrion)
Tissue enhanced
Detected in all
heart:
2180.4
COX3
ENSSSCG00000018082
ENSG00000198938
Cytochrome c oxidase subunit 3
Tissue enhanced
Detected in all
heart:
2427.5
CPOX
ENSSSCG00000011978
ENSG00000080819
Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
Tissue enhanced
Detected in all
liver:
32.0
CPS1
ENSSSCG00000016159
ENSG00000021826
Carbamoyl-phosphate synthase 1
Tissue enriched
Detected in some
liver:
151.7
CPT1A
ENSSSCG00000012880
ENSG00000110090
Carnitine O-palmitoyltransferase 1, liver isoform
Low tissue specificity
Detected in all
CPT2
ENSSSCG00000003851
ENSG00000157184
Carnitine O-palmitoyltransferase 2, mitochondrial precursor
Low tissue specificity
Detected in all
CTH
ENSSSCG00000003789
ENSG00000116761
Cystathionine gamma-lyase
Group enriched
Detected in many
kidney:
30.9
liver:
88.3
CTNS
ENSSSCG00000017865
ENSG00000040531
Cystinosin, lysosomal cystine transporter
Tissue enhanced
Detected in all
vagus nerve:
43.2
CTSA
ENSSSCG00000007431
ENSG00000064601
Lysosomal protective protein precursor
Low tissue specificity
Detected in all
CTSC
ENSSSCG00000014924
ENSG00000109861
Cathepsin C
Tissue enriched
Detected in many
ovary:
200.8
CTSD
ENSSSCG00000040793
ENSG00000117984,ENSG00000250644
Cathepsin D precursor
Tissue enhanced
Detected in all
synovial tissue:
98.7
CTSF
ENSSSCG00000038918
ENSG00000174080
Cathepsin F
Low tissue specificity
Detected in all
CYC1
ENSSSCG00000031918
ENSG00000179091
Cytochrome c1
Tissue enhanced
Detected in all
heart:
112.1
skeletal muscle:
120.4
CYP24A1
ENSSSCG00000007486
ENSG00000019186
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
Tissue enhanced
Detected in all
upper respiratory system:
29.3
CYP27A1
ENSSSCG00000016199
ENSG00000135929
Sterol 26-hydroxylase, mitochondrial
Tissue enriched
Detected in many
liver:
139.3
CYP27B1
ENSSSCG00000028637
ENSG00000111012
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Low tissue specificity
Detected in all
CYP2A19
ENSSSCG00000002993
ENSG00000197838,ENSG00000255974
Cytochrome P450 2A19
Group enriched
Detected in many
kidney:
186.8
liver:
187.0
upper respiratory system:
177.8
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