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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
Heart
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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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THE PIG PROTEOME
THE PIG ATLAS
TISSUE SPECIFIC PROTEOME
UMAP GENE CLUSTERING
BIOMEDICAL RESEARCH
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THE PROJECT
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145 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
ACAN
ENSSSCG00000001832
ENSG00000157766
Aggrecan core protein precursor
Tissue enriched
Detected in some
cartilage:
237.3
ACP5
ENSSSCG00000032282
ENSG00000102575
Tartrate-resistant acid phosphatase type 5
Tissue enhanced
Detected in all
bone marrow:
45.5
dura mater:
103.0
ACTA1
ENSSSCG00000010190
ENSG00000143632
Actin, alpha skeletal muscle
Tissue enriched
Detected in some
skeletal muscle:
1900.3
ACVR1
ENSSSCG00000015874
ENSG00000115170
Activin A receptor type 1
Tissue enhanced
Detected in all
cartilage:
70.9
ADSSL1
ENSSSCG00000037334
ENSG00000185100
Adenylosuccinate synthetase isozyme 1
Tissue enhanced
Detected in many
skeletal muscle:
122.1
ANKH
ENSSSCG00000016784
ENSG00000154122
ANKH inorganic pyrophosphate transport regulator
Tissue enriched
Detected in many
cartilage:
124.6
ANO5
ENSSSCG00000013344
ENSG00000171714
Anoctamin 5
Group enriched
Detected in many
brain:
22.4
skeletal muscle:
35.7
ANTXR2
ENSSSCG00000009256
ENSG00000163297
Anthrax toxin receptor 2
Tissue enhanced
Detected in many
cervix:
64.3
smooth muscle:
70.0
ASCC1
ENSSSCG00000023130
ENSG00000138303
Activating signal cointegrator 1 complex subunit 1 isoform 1
Low tissue specificity
Detected in all
ATP2A1
ENSSSCG00000007805
ENSG00000196296
Sarcoplasmic/endoplasmic reticulum calcium ATPase 1
Tissue enriched
Detected in some
skeletal muscle:
375.6
B3GALNT2
ENSSSCG00000033692
ENSG00000162885
Beta-1,3-N-acetylgalactosaminyltransferase 2
Low tissue specificity
Detected in all
B4GAT1
ENSSSCG00000012940
ENSG00000174684
Beta-1,4-glucuronyltransferase 1
Tissue enhanced
Detected in many
brain:
41.1
BAG3
ENSSSCG00000010686
ENSG00000151929
BCL2 associated athanogene 3
Tissue enhanced
Detected in all
skeletal muscle:
118.3
BIN1
ENSSSCG00000015720
ENSG00000136717
Myc box-dependent-interacting protein 1
Tissue enhanced
Detected in all
brain:
87.5
skeletal muscle:
140.3
BVES
ENSSSCG00000004366
ENSG00000112276
Blood vessel epicardial substance
Tissue enhanced
Detected in many
heart:
27.4
male glands:
20.3
skeletal muscle:
28.5
smooth muscle:
22.7
CACNA1S
ENSSSCG00000024784
ENSG00000081248
Calcium voltage-gated channel subunit alpha1 S
Tissue enriched
Detected in some
skeletal muscle:
92.9
CALCR
ENSSSCG00000015320
ENSG00000004948
Calcitonin receptor
Tissue enriched
Detected in some
brain:
81.1
CAPN3
ENSSSCG00000004728
ENSG00000092529
Calpain 3
Tissue enriched
Detected in many
skeletal muscle:
135.8
CAV3
ENSSSCG00000040643
ENSG00000182533
Caveolin-3
Tissue enhanced
Detected in some
heart:
35.4
skeletal muscle:
41.0
synovial tissue:
10.2
CFL2
ENSSSCG00000001959
ENSG00000165410
Cofilin-2
Tissue enhanced
Detected in all
skeletal muscle:
60.3
smooth muscle:
74.5
CHKB
ENSSSCG00000036154
ENSG00000100288
Choline/ethanolamine kinase
Low tissue specificity
Detected in all
CLCN1
ENSSSCG00000016462
ENSG00000188037
Chloride voltage-gated channel 1
Group enriched
Detected in some
lens:
15.3
skeletal muscle:
37.6
CNBP
ENSSSCG00000040879
ENSG00000169714
CCHC-type zinc finger nucleic acid binding protein
Low tissue specificity
Detected in all
COL11A2
ENSSSCG00000001473
ENSG00000204248
Collagen type XI alpha 2 chain
Tissue enriched
Detected in some
cartilage:
294.3
COL12A1
ENSSSCG00000004484
ENSG00000111799
Collagen type XII alpha 1 chain
Tissue enhanced
Detected in many
cartilage:
157.9
COL1A1
ENSSSCG00000036135
ENSG00000108821
Collagen type I alpha 1 chain
Tissue enhanced
Detected in many
dura mater:
410.3
COL1A2
ENSSSCG00000015326
ENSG00000164692
Collagen alpha-2(I) chain precursor
Tissue enhanced
Detected in many
dura mater:
322.8
COL2A1
ENSSSCG00000025523
ENSG00000139219
Collagen type II alpha 1 chain
Tissue enriched
Detected in some
cartilage:
1246.4
COL6A2
ENSSSCG00000028022
ENSG00000142173
Collagen type VI alpha 2 chain
Tissue enhanced
Detected in all
cartilage:
281.6
synovial tissue:
155.1
COL6A3
ENSSSCG00000027331
ENSG00000163359
Collagen type VI alpha 3 chain
Tissue enhanced
Detected in many
cornea:
101.7
CRYAB
ENSSSCG00000036724
ENSG00000109846
Alpha-crystallin B chain
Tissue enriched
Detected in many
lens:
2223.0
DAG1
ENSSSCG00000034357
ENSG00000173402
Dystroglycan 1
Tissue enhanced
Detected in all
vagus nerve:
122.6
DES
ENSSSCG00000020785
ENSG00000175084
Desmin
Tissue enhanced
Detected in many
skeletal muscle:
301.6
smooth muscle:
547.0
urinary bladder:
220.0
DMD
ENSSSCG00000028148
ENSG00000198947
Dystrophin
Tissue enhanced
Detected in many
skeletal muscle:
82.6
vagus nerve:
69.3
DMPK
ENSSSCG00000038969
ENSG00000104936
DM1 protein kinase
Tissue enhanced
Detected in all
smooth muscle:
96.2
DNM2
ENSSSCG00000013630
ENSG00000079805
Dynamin 2
Tissue enhanced
Detected in all
male glands:
108.5
DYSF
ENSSSCG00000008312
ENSG00000135636
Dysferlin
Tissue enhanced
Detected in all
skeletal muscle:
45.7
EMD
ENSSSCG00000037777
ENSG00000102119
Emerin
Low tissue specificity
Detected in all
ENPP1
ENSSSCG00000004193
ENSG00000197594
Ectonucleotide pyrophosphatase/phosphodiesterase 1
Tissue enriched
Detected in many
cartilage:
130.3
FKRP
ENSSSCG00000003103
ENSG00000181027
Fukutin related protein
Low tissue specificity
Detected in all
FKTN
ENSSSCG00000005427
ENSG00000106692
Fukutin
Low tissue specificity
Detected in all
FLNC
ENSSSCG00000016578
ENSG00000128591
Filamin C
Tissue enhanced
Detected in many
heart:
70.9
skeletal muscle:
158.2
smooth muscle:
105.3
GNAS
ENSSSCG00000007520
ENSG00000087460
Guanine nucleotide-binding protein G(s) subunit alpha isoform f
Low tissue specificity
Detected in all
GNE
ENSSSCG00000037468
ENSG00000159921
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Tissue enriched
Detected in all
male glands:
122.3
H3F3A
ENSSSCG00000023971
ENSG00000163041
Histone H3.3
Low tissue specificity
Detected in all
HNRNPA2B1
ENSSSCG00000036350
ENSG00000122566
Heterogeneous nuclear ribonucleoprotein A2/B1
Low tissue specificity
Detected in all
HNRNPDL
ENSSSCG00000037245
ENSG00000152795
Heterogeneous nuclear ribonucleoprotein D like
Low tissue specificity
Detected in all
HPGD
ENSSSCG00000009699
ENSG00000164120
15-hydroxyprostaglandin dehydrogenase
Low tissue specificity
Detected in all
HRAS
ENSSSCG00000031513
ENSG00000174775
HRas proto-oncogene, GTPase
Tissue enhanced
Detected in all
lens:
85.8
HSD11B2
ENSSSCG00000002777
ENSG00000176387
Corticosteroid 11-beta-dehydrogenase isozyme 2
Group enriched
Detected in many
adrenal gland:
19.3
kidney:
52.6
large intestine:
68.6
salivary gland:
18.1
urinary bladder:
36.6
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