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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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7
8
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MT
Unmapped
X
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External id
Variability
Variable
Not variable
Tissue
Any
Adipose tissue
Brain
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Lymphoid tissue
Male glands
Mesothelial tissue
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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2003 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
ATF2
ENSSSCG00000038076
ENSG00000115966
Activating transcription factor 2
Low tissue specificity
Detected in all
ATF6
ENSSSCG00000006346
ENSG00000118217
Activating transcription factor 6
Low tissue specificity
Detected in all
ATG10
ENSSSCG00000025210
ENSG00000152348
Autophagy related 10
Low tissue specificity
Detected in all
ATG101
ENSSSCG00000033687
ENSG00000123395
Autophagy related 101
Low tissue specificity
Detected in all
ATG12
ENSSSCG00000033912
ENSG00000145782
Ubiquitin-like protein ATG12
Low tissue specificity
Detected in all
ATG13
ENSSSCG00000013257
ENSG00000175224
Autophagy related 13
Low tissue specificity
Detected in all
ATG3
ENSSSCG00000011930
ENSG00000144848
Autophagy related 3
Low tissue specificity
Detected in all
ATG4C
ENSSSCG00000003816
ENSG00000125703
Cysteine protease ATG4C
Tissue enhanced
Detected in all
brain:
42.7
ATG5
ENSSSCG00000004370
ENSG00000057663
Autophagy related 5
Low tissue specificity
Detected in all
ATIC
ENSSSCG00000016173
ENSG00000138363
Bifunctional purine biosynthesis protein PURH
Low tissue specificity
Detected in all
ATM
ENSSSCG00000025606
ENSG00000149311
Serine-protein kinase ATM
Low tissue specificity
Detected in all
ATP1B1
ENSSSCG00000006296
ENSG00000143153
Sodium/potassium-transporting ATPase subunit beta-1
Tissue enhanced
Detected in all
kidney:
110.2
male glands:
224.2
ATP23
ENSSSCG00000000453
ENSG00000166896
ATP23 metallopeptidase and ATP synthase assembly factor homolog
Low tissue specificity
Detected in all
ATP2C1
ENSSSCG00000011183
ENSG00000017260
ATPase secretory pathway Ca2+ transporting 1
Low tissue specificity
Detected in all
ATP6AP2
ENSSSCG00000012247
ENSG00000182220
ATPase H+ transporting accessory protein 2
Low tissue specificity
Detected in all
ATP6V0B
ENSSSCG00000039267
ENSG00000117410
ATPase H+ transporting V0 subunit b
Tissue enhanced
Detected in all
ovary:
65.7
ATP6V0D1
ENSSSCG00000002776
ENSG00000159720
ATPase H+ transporting V0 subunit d1
Low tissue specificity
Detected in all
ATP6V1A
ENSSSCG00000011916
ENSG00000114573
V-type proton ATPase catalytic subunit A
Low tissue specificity
Detected in all
ATP6V1B2
ENSSSCG00000028694
ENSG00000147416
ATPase H+ transporting V1 subunit B2
Tissue enhanced
Detected in all
brain:
48.8
pineal gland:
45.5
ATP6V1C1
ENSSSCG00000006054
ENSG00000155097
V-type proton ATPase subunit C 1
Low tissue specificity
Detected in all
ATP6V1D
ENSSSCG00000033278
ENSG00000100554
ATPase H+ transporting V1 subunit D
Low tissue specificity
Detected in all
ATP6V1E1
ENSSSCG00000000767
ENSG00000131100
ATPase H+ transporting V1 subunit E1
Tissue enhanced
Detected in all
lens:
85.9
ATP6V1F
ENSSSCG00000016577
ENSG00000128524
ATPase H+ transporting V1 subunit F
Low tissue specificity
Detected in all
ATRN
ENSSSCG00000007153
ENSG00000088812
Attractin
Low tissue specificity
Detected in all
ATXN7L3B
ENSSSCG00000040327
ENSG00000253719
Ataxin 7 like 3B
Low tissue specificity
Detected in all
AZI2
ENSSSCG00000028258
ENSG00000163512
5-azacytidine induced 2
Low tissue specificity
Detected in all
AZIN1
ENSSSCG00000023873
ENSG00000155096
Antizyme inhibitor 1
Low tissue specificity
Detected in all
B3GALNT2
ENSSSCG00000033692
ENSG00000162885
Beta-1,3-N-acetylgalactosaminyltransferase 2
Low tissue specificity
Detected in all
BAG4
ENSSSCG00000034468
ENSG00000156735
BCL2 associated athanogene 4
Low tissue specificity
Detected in all
BBS5
ENSSSCG00000015931
ENSG00000163093
Bardet-Biedl syndrome 5
Low tissue specificity
Detected in many
BCAP29
ENSSSCG00000022869
ENSG00000075790
B cell receptor associated protein 29
Tissue enhanced
Detected in all
testis:
90.1
BCAS2
ENSSSCG00000006756
ENSG00000116752
Pre-mRNA-splicing factor SPF27
Low tissue specificity
Detected in all
BCS1L
ENSSSCG00000035775
ENSG00000074582
BCS1-like
Low tissue specificity
Detected in all
BECN1
ENSSSCG00000017386
ENSG00000126581
Beclin-1
Low tissue specificity
Detected in all
BLOC1S2
ENSSSCG00000010551
ENSG00000196072
Biogenesis of lysosomal organelles complex 1 subunit 2
Low tissue specificity
Detected in all
BLOC1S6
ENSSSCG00000037384
ENSG00000104164
Biogenesis of lysosome-related organelles complex 1 subunit 6
Low tissue specificity
Detected in all
BLZF1
ENSSSCG00000022396
ENSG00000117475
Basic leucine zipper nuclear factor 1
Low tissue specificity
Detected in all
BMPR2
ENSSSCG00000016113
ENSG00000204217
Bone morphogenetic protein receptor type-2 precursor
Low tissue specificity
Detected in all
BNIP3L
ENSSSCG00000009658
ENSG00000104765
BCL2 interacting protein 3 like
Low tissue specificity
Detected in all
BPGM
ENSSSCG00000039425
ENSG00000172331
Bisphosphoglycerate mutase
Group enriched
Detected in all
choroid plexus:
64.2
lens:
67.5
BPNT1
ENSSSCG00000010822
ENSG00000162813
3'(2'), 5'-bisphosphate nucleotidase 1
Low tissue specificity
Detected in all
BRAP
ENSSSCG00000040595
ENSG00000089234
BRCA1 associated protein
Low tissue specificity
Detected in all
BRCC3
ENSSSCG00000012813
ENSG00000185515
Lys-63-specific deubiquitinase BRCC36
Low tissue specificity
Detected in all
BRIX1
ENSSSCG00000016827
ENSG00000113460
Ribosome biogenesis protein BRX1 homolog
Low tissue specificity
Detected in all
BRMS1L
ENSSSCG00000001947
ENSG00000100916
Breast cancer metastasis-suppressor 1 like
Low tissue specificity
Detected in all
BROX
ENSSSCG00000010836
ENSG00000162819
BRO1 domain and CAAX motif containing
Low tissue specificity
Detected in all
BTF3L4
ENSSSCG00000038762
ENSG00000134717
Basic transcription factor 3 like 4
Low tissue specificity
Detected in all
BUB3
ENSSSCG00000010726
ENSG00000154473
BUB3, mitotic checkpoint protein
Low tissue specificity
Detected in all
BZW1
ENSSSCG00000016094
ENSG00000082153
Basic leucine zipper and W2 domain-containing protein 1
Low tissue specificity
Detected in all
C11orf58
ENSSSCG00000040570
ENSG00000110696
Small acidic protein
Low tissue specificity
Detected in all
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