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Human disease related genes
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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
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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15066 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
SMIM3
ENSSSCG00000040151
ENSG00000256235
Small integral membrane protein 3
Low tissue specificity
Detected in all
SMIM37
ENSSSCG00000036582
ENSG00000175701
Small integral membrane protein 37
Tissue enhanced
Detected in all
skeletal muscle:
64.4
SMIM4
ENSSSCG00000034529
ENSG00000168273
Small integral membrane protein 4
Tissue enhanced
Detected in all
lens:
61.2
SMIM5
ENSSSCG00000038844
ENSG00000204323
Small integral membrane protein 5
Tissue enhanced
Detected in many
cartilage:
53.1
salivary gland:
28.4
SMIM7
ENSSSCG00000013863
ENSG00000214046,ENSG00000268790
Small integral membrane protein 7
Tissue enriched
Detected in all
lens:
152.5
SMIM8
ENSSSCG00000004300
ENSG00000111850
Small integral membrane protein 8
Low tissue specificity
Detected in all
SMKR1
ENSSSCG00000025967
ENSG00000240204
Small lysine rich protein 1
Tissue enriched
Detected in many
testis:
165.1
SMNDC1
ENSSSCG00000030507
ENSG00000119953
Survival of motor neuron-related-splicing factor 30
Low tissue specificity
Detected in all
SMO
ENSSSCG00000016569
ENSG00000128602
Smoothened, frizzled class receptor
Tissue enhanced
Detected in many
cartilage:
68.4
SMOC1
ENSSSCG00000002314
ENSG00000198732
SPARC related modular calcium binding 1
Tissue enhanced
Detected in many
brain:
35.5
cartilage:
36.3
lymphoid tissue:
50.0
SMOC2
ENSSSCG00000004013
ENSG00000112562
SPARC related modular calcium binding 2
Tissue enhanced
Detected in many
cervix:
64.8
ductus deferens:
56.4
endometrium:
41.5
SMOX
ENSSSCG00000007140
ENSG00000088826
Spermine oxidase
Tissue enhanced
Detected in many
brain:
33.4
SMPD1
ENSSSCG00000014627
ENSG00000166311
Sphingomyelin phosphodiesterase 1
Low tissue specificity
Detected in all
SMPD2
ENSSSCG00000004408
ENSG00000135587
Sphingomyelin phosphodiesterase 2
Tissue enhanced
Detected in all
testis:
47.2
SMPD4
ENSSSCG00000010105
ENSG00000136699
Sphingomyelin phosphodiesterase 4
Low tissue specificity
Detected in all
SMPDL3A
ENSSSCG00000004233
ENSG00000172594
Sphingomyelin phosphodiesterase acid like 3A
Tissue enhanced
Detected in many
male glands:
34.9
SMPDL3B
ENSSSCG00000003582
ENSG00000130768
Sphingomyelin phosphodiesterase acid like 3B
Tissue enhanced
Detected in all
liver:
63.2
SMTN
ENSSSCG00000010017
ENSG00000183963
Smoothelin
Tissue enhanced
Detected in many
cervix:
122.7
smooth muscle:
139.9
SMTNL2
ENSSSCG00000017885
ENSG00000188176
Smoothelin like 2
Tissue enhanced
Detected in many
fallopian tube:
23.7
skeletal muscle:
49.7
SMU1
ENSSSCG00000010999
ENSG00000122692
WD40 repeat-containing protein SMU1
Low tissue specificity
Detected in all
SMUG1
ENSSSCG00000024221
ENSG00000123415
Single-strand-selective monofunctional uracil-DNA glycosylase 1
Low tissue specificity
Detected in all
SMURF1
ENSSSCG00000030153
ENSG00000198742
SMAD specific E3 ubiquitin protein ligase 1
Low tissue specificity
Detected in all
SMURF2
ENSSSCG00000032176
ENSG00000108854
SMAD specific E3 ubiquitin protein ligase 2
Low tissue specificity
Detected in all
SMYD2
ENSSSCG00000015583
ENSG00000143499
N-lysine methyltransferase SMYD2
Tissue enhanced
Detected in all
skeletal muscle:
37.1
SMYD3
ENSSSCG00000022034
ENSG00000185420
Histone-lysine N-methyltransferase SMYD3
Low tissue specificity
Detected in all
SMYD4
ENSSSCG00000017819
ENSG00000186532
SET and MYND domain containing 4
Low tissue specificity
Detected in all
SMYD5
ENSSSCG00000008305
ENSG00000135632
SMYD family member 5
Low tissue specificity
Detected in all
SNAI1
ENSSSCG00000032613
ENSG00000124216
Snail family transcriptional repressor 1
Tissue enhanced
Detected in many
mesothelial tissue:
31.7
ovary:
21.2
SNAI2
ENSSSCG00000039568
ENSG00000019549
Snail family transcriptional repressor 2
Tissue enhanced
Detected in many
bone marrow:
35.6
cartilage:
27.5
SNAP23
ENSSSCG00000038735
ENSG00000092531
Synaptosomal-associated protein 23
Low tissue specificity
Detected in all
SNAP29
ENSSSCG00000010094
ENSG00000099940
Synaptosome associated protein 29
Low tissue specificity
Detected in all
SNAP47
ENSSSCG00000013984
ENSG00000143740
Synaptosome associated protein 47
Low tissue specificity
Detected in all
SNAPC1
ENSSSCG00000005097
ENSG00000023608
Small nuclear RNA activating complex polypeptide 1
Low tissue specificity
Detected in all
SNAPC2
ENSSSCG00000013589
ENSG00000104976
Small nuclear RNA activating complex polypeptide 2
Low tissue specificity
Detected in all
SNAPC4
ENSSSCG00000038262
ENSG00000165684
Small nuclear RNA activating complex polypeptide 4
Low tissue specificity
Detected in all
SNAPC5
ENSSSCG00000038941
ENSG00000174446
SnRNA-activating protein complex subunit 5
Low tissue specificity
Detected in all
SNAPIN
ENSSSCG00000034159
ENSG00000143553
SNARE-associated protein Snapin
Low tissue specificity
Detected in all
SNCA
ENSSSCG00000009203
ENSG00000145335
Alpha-synuclein
Group enriched
Detected in many
brain:
53.8
lens:
13.9
vagus nerve:
55.7
SNCAIP
ENSSSCG00000014235
ENSG00000064692
Synphilin-1 isoform 1a
Low tissue specificity
Detected in many
SNCG
ENSSSCG00000026850
ENSG00000173267
Gamma-synuclein
Tissue enriched
Detected in many
lens:
267.5
SND1
ENSSSCG00000016590
ENSG00000197157
Staphylococcal nuclease and tudor domain containing 1
Low tissue specificity
Detected in all
SNED1
ENSSSCG00000016381
ENSG00000162804
Sushi, nidogen and EGF like domains 1
Tissue enhanced
Detected in many
cartilage:
74.6
synovial tissue:
37.6
SNF8
ENSSSCG00000021461
ENSG00000159210
SNF8, ESCRT-II complex subunit
Low tissue specificity
Detected in all
SNIP1
ENSSSCG00000029991
ENSG00000163877
Smad nuclear interacting protein 1
Low tissue specificity
Detected in all
SNN
ENSSSCG00000007897
ENSG00000184602
Stannin
Tissue enhanced
Detected in all
brain:
58.5
lens:
50.1
SNPH
ENSSSCG00000039392
ENSG00000101298
Syntaphilin
Tissue enhanced
Detected in many
brain:
23.9
male glands:
18.0
SNRK
ENSSSCG00000011295
ENSG00000163788
SNF related kinase
Low tissue specificity
Detected in all
SNRNP200
ENSSSCG00000008127
ENSG00000144028
Small nuclear ribonucleoprotein U5 subunit 200
Low tissue specificity
Detected in all
SNRNP25
ENSSSCG00000007962
ENSG00000161981
Small nuclear ribonucleoprotein U11/U12 subunit 25
Low tissue specificity
Detected in all
SNRNP27
ENSSSCG00000025674
ENSG00000124380
Small nuclear ribonucleoprotein U4/U6.U5 subunit 27
Low tissue specificity
Detected in all
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