CASP7 (caspase 7) - Rat Genome Database

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Gene: CASP7 (caspase 7) Homo sapiens
Analyze
Symbol: CASP7
Name: caspase 7
RGD ID: 1298347
HGNC Page HGNC:1508
Description: Enables RNA binding activity and cysteine-type endopeptidase activity involved in execution phase of apoptosis. Involved in several processes, including cellular response to lipopolysaccharide; cellular response to staurosporine; and execution phase of apoptosis. Is active in cytosol and nucleus. Implicated in Alzheimer's disease; breast cancer; colon cancer; and lung non-small cell carcinoma. Biomarker of Alzheimer's disease and rheumatoid arthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: apoptotic protease MCH-3; CASP-7; caspase 7 isoform delta; caspase 7, apoptosis-related cysteine peptidase; caspase 7, apoptosis-related cysteine protease; caspase-7; CMH-1; ICE-LAP3; ICE-like apoptotic protease 3; LICE2; Lice2 alpha/beta/gamma; MCH3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810113,679,194 - 113,730,909 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10113,679,162 - 113,730,907 (+)EnsemblGRCh38hg38GRCh38
GRCh3710115,438,953 - 115,490,668 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610115,428,925 - 115,480,654 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410115,428,952 - 115,480,652NCBI
Celera10109,166,297 - 109,218,022 (+)NCBICelera
Cytogenetic Map10q25.3NCBI
HuRef10109,065,803 - 109,118,487 (+)NCBIHuRef
CHM1_110115,720,952 - 115,772,694 (+)NCBICHM1_1
T2T-CHM13v2.010114,571,036 - 114,622,770 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-cotinine  (EXP)
(-)-gambogic acid  (EXP)
(1->4)-beta-D-glucan  (ISO)
(aminomethyl)phosphonic acid  (EXP)
(R)-noradrenaline  (EXP)
(R,R,R)-alpha-tocopherol  (EXP)
(S)-naringenin  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (EXP)
1-[4-(1,3-benzodioxol-5-ylmethyl)-1-piperazinyl]-2-(4-chlorophenoxy)ethanone  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',4,5-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-methoxy-17beta-estradiol  (EXP)
2-tert-butylhydroquinone  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (EXP)
3-methyladenine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-aminopyridine  (ISO)
4-hydroxy-TEMPO  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (EXP)
4-nonylphenol  (ISO)
4-phenylbutyric acid  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-(cyclohexylmethoxy)-5-nitrosopyrimidine-2,4-diamine  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP)
6-propyl-2-thiouracil  (ISO)
7-ketocholesterol  (EXP)
9-cis-retinoic acid  (ISO)
ABT-737  (EXP)
acetamide  (ISO)
acetylleucyl-leucyl-norleucinal  (EXP)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (EXP)
actinomycin D  (EXP)
AICA ribonucleotide  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-mangostin  (EXP)
alpha-pinene  (EXP)
alpidem  (EXP)
aminoguanidine  (EXP)
amiodarone  (EXP,ISO)
amlodipine  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
antirheumatic drug  (EXP)
Antrocin  (EXP)
apigenin  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
bafilomycin A1  (EXP)
beauvericin  (ISO)
belinostat  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP,ISO)
benzophenanthridine  (EXP)
beta-carboline  (EXP)
betulinic acid  (EXP)
bicalutamide  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bortezomib  (EXP)
brassinin  (EXP)
brilliant green  (EXP)
buspirone  (ISO)
butylated hydroxyanisole  (EXP)
C.I. Natural Red 20  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (ISO)
cadmium sulfide  (EXP)
Calcimycin  (EXP)
calcitriol  (EXP)
camptothecin  (EXP)
cannabidiol  (EXP)
capsaicin  (EXP)
carbon monoxide  (ISO)
carbon nanotube  (ISO)
carboplatin  (EXP)
casticin  (EXP)
catechol  (EXP)
celecoxib  (EXP)
ceric oxide  (EXP)
chalcones  (EXP)
chelerythrine  (EXP)
chloroacetic acid  (ISO)
chloroquine  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chondroitin sulfate  (EXP)
chromium(6+)  (EXP,ISO)
cilostazol  (ISO)
cimetidine  (EXP)
cisplatin  (EXP,ISO)
cladribine  (EXP)
clofarabine  (EXP)
clomipramine  (EXP)
clozapine  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP,ISO)
copper(II) sulfate  (EXP)
cordycepin  (ISO)
coumarin  (EXP)
coumestrol  (ISO)
crizotinib  (EXP)
crocidolite asbestos  (EXP)
crotonaldehyde  (ISO)
Cryptotanshinone  (EXP)
crystal violet  (EXP)
cucurbitacin E  (EXP)
cucurbitacin I  (EXP)
curcumin  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
cypermethrin  (EXP,ISO)
cyproconazole  (ISO)
dapagliflozin  (ISO)
DDT  (EXP)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
dexmedetomidine  (EXP)
Di-n-octyl phthalate  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
dihydrocapsaicin  (EXP)
Dimethyl phthalate  (ISO)
dioscin  (EXP)
diosmin  (ISO)
dipyridamole  (EXP)
disodium selenite  (EXP)
disulfiram  (EXP)
dopamine  (EXP)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
dronedarone  (EXP)
edaravone  (EXP)
ellipticine  (EXP)
endosulfan  (EXP)
epoxiconazole  (ISO)
equol  (EXP)
eriocitrin  (EXP)
esculetin  (EXP)
estrone  (EXP)
etodolac  (EXP)
etoposide  (EXP,ISO)
eugenol  (EXP)
fipronil  (EXP)
fisetin  (EXP)
flavanones  (EXP)
flavonols  (EXP)
flecainide  (EXP)
flunitrazepam  (EXP)
fluoxetine  (EXP)
flutamide  (ISO)
fluvoxamine  (EXP)
folic acid  (EXP,ISO)
folpet  (ISO)
formononetin  (EXP)
fructose  (ISO)
fucoxanthin  (EXP)
fumonisin B1  (EXP)
gallic acid  (EXP)
gamma-hexachlorocyclohexane  (ISO)
geldanamycin  (EXP)
genistein  (EXP)
glutathione  (EXP)
glyphosate  (EXP,ISO)
gold atom  (EXP)
gold(0)  (EXP)
gossypin  (EXP)
gossypol  (EXP)
guanidines  (EXP)
harman  (EXP)
herbicide  (EXP)
hexadecanoic acid  (EXP,ISO)
homocysteine  (EXP)
hyaluronic acid  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
hydroxyurea  (ISO)
imipramine  (EXP)
indole-3-methanol  (EXP)
indometacin  (EXP)
iron(2+) sulfate (anhydrous)  (EXP)
isoalantolactone  (EXP)
Isoangustone A  (EXP)
isoflurane  (ISO)
isoprenaline  (EXP,ISO)
ivermectin  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
lapatinib  (EXP)
lead nitrate  (ISO)
lipopolysaccharide  (EXP,ISO)
lithium atom  (EXP)
lithium carbonate  (ISO)
lithium chloride  (EXP)
lithium hydride  (EXP)
loratadine  (EXP)
Lupiwighteone  (EXP)
luteolin  (EXP)
LY294002  (EXP,ISO)
mancozeb  (EXP)
maneb  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
mebendazole  (EXP)
memantine  (EXP)
menaquinone  (EXP)
mercury dichloride  (ISO)
metformin  (EXP,ISO)
methcathinone  (EXP)
methidathion  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methoxyacetic acid  (EXP)
methoxychlor  (ISO)
methylcobalamin  (EXP)
methylglyoxal  (EXP)
methylmercury chloride  (ISO)
methylseleninic acid  (EXP)
mevalonic acid  (EXP)
microcystin-LR  (EXP)
minocycline  (ISO)
mitomycin C  (EXP)
Mitotane  (EXP,ISO)
mitoxantrone  (EXP)
MK-2206  (EXP)
molybdenum atom  (EXP)
monensin A  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
morin  (EXP)
Muconic dialdehyde  (EXP)
Myrtucommulone A  (ISO)
N-(3-oxododecanoyl)homoserine lactone  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
nefazodone  (EXP)
nelfinavir  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP,ISO)
niclosamide  (EXP)
nilotinib  (EXP)
nimetazepam  (EXP)
nimodipine  (EXP)
nitrazepam  (EXP)
nitric oxide  (EXP)
nitroprusside  (EXP,ISO)
nortriptyline  (EXP)
NS-398  (ISO)
Nutlin-3  (EXP)
ochratoxin A  (EXP,ISO)
octadecanoic acid  (ISO)
okadaic acid  (EXP)
omacetaxine mepesuccinate  (EXP)
omipalisib  (EXP)
oxidopamine  (EXP,ISO)
ozone  (EXP,ISO)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
palbociclib  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentobarbital  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenanthridone  (EXP)
phentolamine  (EXP)
pifithrin-?  (EXP,ISO)
pirinixic acid  (ISO)
platycodin D  (EXP)
potassium chromate  (EXP)
potassium dichromate  (EXP,ISO)
propafenone  (EXP)
propranolol  (EXP)
propylparaben  (EXP)
pterostilbene  (EXP)
pyrene  (ISO)
pyrimethamine  (EXP)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
razoxane  (EXP)
reactive oxygen species  (EXP)
remdesivir  (EXP)
resveratrol  (EXP,ISO)
ribavirin  (EXP)
Riluzole  (EXP)
risperidone  (EXP)
rotenone  (EXP)
rubimaillin  (EXP)
rutin  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
Salinomycin  (EXP)
sappanchalcone  (EXP)
SB 203580  (EXP,ISO)
selumetinib  (ISO)
serotonin  (EXP)
sertraline  (EXP)
Sesamol  (EXP)
sevoflurane  (EXP)
Shikonin  (ISO)
simvastatin  (EXP)
sirolimus  (EXP,ISO)
SKF 38393  (EXP)
sodium acetate trihydrate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
solasodine  (EXP)
Soman  (ISO)
sorafenib  (EXP)
spermine  (ISO)
spironolactone  (EXP)
staurosporine  (EXP,ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP)
tamoxifen  (EXP)
tauroursodeoxycholic acid  (EXP)
temozolomide  (EXP)
TEMPO  (ISO)
terbutaline  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thymoquinone  (EXP)
ticlopidine  (EXP)
titanium dioxide  (EXP)
Tomentosin  (EXP)
topotecan  (EXP)
trametinib  (EXP)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP,ISO)
Triptolide  (EXP,ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
tunicamycin  (EXP,ISO)
ursodeoxycholic acid  (EXP,ISO)
ursolic acid  (ISO)
usnic acid  (EXP)
valproic acid  (EXP)
venom  (EXP)
verapamil  (ISO)
vinclozolin  (ISO)
vinorelbine  (ISO)
vorinostat  (EXP)
WIN 55212-2  (EXP)
wortmannin  (EXP)
xanthohumol  (EXP)
zileuton  (EXP)
zinc pyrithione  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA,TAS)
cytosol  (IDA,IEA,TAS)
extracellular region  (IEA)
extracellular space  (IEA,TAS)
nucleoplasm  (TAS)
nucleus  (IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. Caspase 7 is a positional candidate gene for IDDM 17 in a Bedouin Arab family. Babu SR, etal., Ann N Y Acad Sci 2003 Nov;1005:340-3.
2. Chemopreventive effect of a novel oleanane triterpenoid in a chemically induced rodent model of breast cancer. Bishayee A, etal., Int J Cancer. 2013 Sep 1;133(5):1054-63. doi: 10.1002/ijc.28108. Epub 2013 Mar 29.
3. Pomegranate exerts chemoprevention of experimentally induced mammary tumorigenesis by suppression of cell proliferation and induction of apoptosis. Bishayee A, etal., Nutr Cancer. 2016;68(1):120-30. doi: 10.1080/01635581.2016.1115094. Epub 2015 Dec 23.
4. Caspase-7 ablation modulates UPR, reprograms TRAF2-JNK apoptosis and protects T17M rhodopsin mice from severe retinal degeneration. Choudhury S, etal., Cell Death Dis. 2013 Mar 7;4:e528. doi: 10.1038/cddis.2013.34.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Implication of caspases and subcellular compartments in tert-butylhydroperoxide induced apoptosis. Haidara K, etal., Toxicol Appl Pharmacol. 2008 May 15;229(1):65-76. Epub 2008 Jan 29.
7. Effect of carvedilol against myocardial injury due to ischemia-reperfusion of the brain in rats. Harima M, etal., Exp Mol Pathol. 2015 Jun;98(3):558-62. doi: 10.1016/j.yexmp.2015.04.001. Epub 2015 Apr 11.
8. Caspase function in programmed cell death. Kumar S Cell Death Differ. 2007 Jan;14(1):32-43. Epub 2006 Nov 3.
9. The hyperglycemia stimulated myocardial endoplasmic reticulum (ER) stress contributes to diabetic cardiomyopathy in the transgenic non-obese type 2 diabetic rats: a differential role of unfolded protein response (UPR) signaling proteins. Lakshmanan AP, etal., Int J Biochem Cell Biol. 2013 Feb;45(2):438-47. doi: 10.1016/j.biocel.2012.09.017. Epub 2012 Sep 29.
10. Caspase-7 deficiency protects from endotoxin-induced lymphocyte apoptosis and improves survival. Lamkanfi M, etal., Blood. 2009 Mar 19;113(12):2742-5. Epub 2009 Jan 23.
11. Polymorphisms in the caspase genes and the risk of lung cancer. Lee SY, etal., J Thorac Oncol. 2010 Aug;5(8):1152-8. doi: 10.1097/JTO.0b013e3181e04543.
12. Targeting the XIAP/caspase-7 complex selectively kills caspase-3-deficient malignancies. Lin YF, etal., J Clin Invest. 2013 Sep;123(9):3861-75. doi: 10.1172/JCI67951. Epub 2013 Aug 27.
13. Selenium Plays a Protective Role in Staphylococcus aureus-Induced Endometritis in the Uterine Tissue of Rats. Liu Y, etal., Biol Trace Elem Res. 2016 Oct;173(2):345-53. doi: 10.1007/s12011-016-0659-6. Epub 2016 Feb 26.
14. Hypochlorite modified albumins promote cell death in the tubule interstitium in rats via mitochondrial damage in obstructive nephropathy and the protective effects of antioxidant peptides. Liu ZR, etal., Free Radic Res. 2018 May;52(5):616-628. doi: 10.1080/10715762.2018.1457789.
15. Compound 21 and Telmisartan combination mitigates type 2 diabetic nephropathy through amelioration of caspase mediated apoptosis. Pandey A and Gaikwad AB, Biochem Biophys Res Commun. 2017 Jun 10;487(4):827-833. doi: 10.1016/j.bbrc.2017.04.134. Epub 2017 Apr 27.
16. Playing the DISC: turning on TRAIL death receptor-mediated apoptosis in cancer. Pennarun B, etal., Biochim Biophys Acta. 2010 Apr;1805(2):123-40. Epub 2009 Dec 2.
17. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
18. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
19. Caspase gene expression in the brain as a function of the clinical progression of Alzheimer disease. Pompl PN, etal., Arch Neurol. 2003 Mar;60(3):369-76.
20. Retinal gene expression after central retinal artery ligation: effects of ischemia and reperfusion. Prasad SS, etal., Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6207-19. Epub 2010 Aug 11.
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. Genome-wide haplotype association study identify TNFRSF1A, CASP7, LRP1B, CDH1 and TG genes associated with Alzheimer's disease in Caribbean Hispanic individuals. Shang Z, etal., Oncotarget. 2015 Dec 15;6(40):42504-14. doi: 10.18632/oncotarget.6391.
23. Anti-inflammatory and anti-apoptotic effects of rosuvastatin by regulation of oxidative stress in a dextran sulfate sodium-induced colitis model. Shin SK, etal., World J Gastroenterol. 2017 Jul 7;23(25):4559-4568. doi: 10.3748/wjg.v23.i25.4559.
24. The many roles of FAS receptor signaling in the immune system. Strasser A, etal., Immunity. 2009 Feb 20;30(2):180-92.
25. Genetic and expression analysis of CASP7 gene in a European Caucasian population with rheumatoid arthritis. Teixeira VH, etal., J Rheumatol. 2008 Oct;35(10):1912-8. Epub 2008 Sep 1.
26. Transient Receptor Potential Channel, Vanilloid 5, Induces Chondrocyte Apoptosis in a Rat Osteoarthritis Model Through the Mediation of Ca2+ Influx. Wei Y, etal., Cell Physiol Biochem. 2018;46(2):687-698. doi: 10.1159/000488725. Epub 2018 Mar 29.
27. Evaluation of apoptotic pathways in dorsal root ganglion neurons following peripheral nerve injury. Wiberg R, etal., Neuroreport. 2018 Jun 13;29(9):779-785. doi: 10.1097/WNR.0000000000001031.
28. Caspase-7, Fas and FasL in long-term renal ischaemia/reperfusion and immunosuppressive injuries in rats. Yang B, etal., Am J Nephrol. 2007;27(4):397-408. Epub 2007 Jun 26.
29. Protection effect of survivin protein overexpression on acute myocardial infarction in rats. Yang M, etal., Int J Clin Exp Med. 2015 Aug 15;8(8):12995-3000. eCollection 2015.
30. Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation. Young JE, etal., J Biol Chem. 2007 Oct 12;282(41):30150-60. Epub 2007 Jul 23.
31. Cardioprotection of tilianin ameliorates myocardial ischemia-reperfusion injury: Role of the apoptotic signaling pathway. Zeng C, etal., PLoS One. 2018 Mar 14;13(3):e0193845. doi: 10.1371/journal.pone.0193845. eCollection 2018.
Additional References at PubMed
PMID:1056466   PMID:7983002   PMID:8125298   PMID:8521391   PMID:8567622   PMID:8576161   PMID:8631895   PMID:8755496   PMID:8780721   PMID:8812467   PMID:8889548   PMID:8962078  
PMID:9070923   PMID:9219695   PMID:9228018   PMID:9230442   PMID:9298992   PMID:9323209   PMID:9325343   PMID:9337844   PMID:9384571   PMID:9525868   PMID:9535906   PMID:9593687  
PMID:9607320   PMID:9671712   PMID:9850056   PMID:9875225   PMID:9894612   PMID:9922454   PMID:9990034   PMID:10069390   PMID:10082581   PMID:10103059   PMID:10200531   PMID:10318789  
PMID:10469173   PMID:10564664   PMID:10675528   PMID:10731697   PMID:10791974   PMID:10862606   PMID:10998058   PMID:11016947   PMID:11024045   PMID:11058599   PMID:11084335   PMID:11170436  
PMID:11257230   PMID:11257231   PMID:11257232   PMID:11278572   PMID:11356849   PMID:11359776   PMID:11387340   PMID:11399776   PMID:11420704   PMID:11423904   PMID:11425872   PMID:11448953  
PMID:11514563   PMID:11535131   PMID:11555640   PMID:11752425   PMID:11755217   PMID:11802788   PMID:11815631   PMID:11829465   PMID:11832478   PMID:11859414   PMID:11875078   PMID:11904443  
PMID:11943137   PMID:12107159   PMID:12145703   PMID:12181742   PMID:12477932   PMID:12586738   PMID:12665508   PMID:12804035   PMID:12824163   PMID:12888622   PMID:12951057   PMID:12970753  
PMID:14512414   PMID:14583630   PMID:14584591   PMID:14623896   PMID:14713958   PMID:15033720   PMID:15200957   PMID:15254227   PMID:15489334   PMID:15500642   PMID:15507451   PMID:15511269  
PMID:15580265   PMID:15650747   PMID:15735701   PMID:16123041   PMID:16213496   PMID:16339151   PMID:16344560   PMID:16352606   PMID:16374543   PMID:16385451   PMID:16498457   PMID:16916640  
PMID:16918502   PMID:17023557   PMID:17094969   PMID:17167422   PMID:17283187   PMID:17337451   PMID:17464193   PMID:17504820   PMID:17532763   PMID:17697120   PMID:17880920   PMID:17978580  
PMID:18072206   PMID:18086147   PMID:18459962   PMID:18521960   PMID:18596415   PMID:18708163   PMID:18723680   PMID:19022247   PMID:19052714   PMID:19058873   PMID:19141860   PMID:19219602  
PMID:19241192   PMID:19258326   PMID:19269008   PMID:19323650   PMID:19414860   PMID:19531679   PMID:19573080   PMID:19581639   PMID:19604093   PMID:19605487   PMID:19617626   PMID:19655253  
PMID:19655254   PMID:19692467   PMID:19698783   PMID:19738422   PMID:19740745   PMID:19759058   PMID:19770576   PMID:19773279   PMID:19782763   PMID:19826114   PMID:19913121   PMID:19996278  
PMID:20159985   PMID:20379614   PMID:20402676   PMID:20404718   PMID:20453000   PMID:20468060   PMID:20566630   PMID:20567846   PMID:20628086   PMID:20800603   PMID:20819778   PMID:20855536  
PMID:20950443   PMID:20959405   PMID:21044950   PMID:21142842   PMID:21157428   PMID:21484410   PMID:21555521   PMID:21873635   PMID:21936563   PMID:22184066   PMID:22253444   PMID:22441531  
PMID:22451931   PMID:22464733   PMID:22548721   PMID:22561518   PMID:22584050   PMID:22863883   PMID:22986525   PMID:23049853   PMID:23074197   PMID:23190606   PMID:23383273   PMID:23650375  
PMID:23728617   PMID:23732112   PMID:23765963   PMID:23897474   PMID:24040159   PMID:24080088   PMID:24407236   PMID:24434142   PMID:24904167   PMID:25156550   PMID:25416956   PMID:25435190  
PMID:25515538   PMID:25784056   PMID:26045308   PMID:26307684   PMID:26764036   PMID:26988918   PMID:27031226   PMID:27032039   PMID:27084536   PMID:27358062   PMID:27889207   PMID:27927753  
PMID:28165150   PMID:28863261   PMID:29659498   PMID:29842999   PMID:30069746   PMID:30451870   PMID:30455355   PMID:30503768   PMID:30725182   PMID:30794682   PMID:30833792   PMID:30918127  
PMID:30948266   PMID:31392262   PMID:31467278   PMID:31470122   PMID:31586028   PMID:31601152   PMID:31701491   PMID:31819117   PMID:32051334   PMID:32296183   PMID:32619291   PMID:32686156  
PMID:32807901   PMID:32814053   PMID:32911434   PMID:32951155   PMID:33469117   PMID:33961781   PMID:34156061   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36611995   PMID:37209562  
PMID:37327784  


Genomics

Comparative Map Data
CASP7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810113,679,194 - 113,730,909 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10113,679,162 - 113,730,907 (+)EnsemblGRCh38hg38GRCh38
GRCh3710115,438,953 - 115,490,668 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610115,428,925 - 115,480,654 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410115,428,952 - 115,480,652NCBI
Celera10109,166,297 - 109,218,022 (+)NCBICelera
Cytogenetic Map10q25.3NCBI
HuRef10109,065,803 - 109,118,487 (+)NCBIHuRef
CHM1_110115,720,952 - 115,772,694 (+)NCBICHM1_1
T2T-CHM13v2.010114,571,036 - 114,622,770 (+)NCBIT2T-CHM13v2.0
Casp7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391956,382,640 - 56,430,780 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1956,385,561 - 56,430,776 (+)EnsemblGRCm39 Ensembl
GRCm381956,396,833 - 56,442,348 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1956,397,129 - 56,442,344 (+)EnsemblGRCm38mm10GRCm38
MGSCv371956,471,619 - 56,516,834 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361956,450,379 - 56,495,594 (+)NCBIMGSCv36mm8
Celera1958,584,433 - 58,629,610 (+)NCBICelera
Cytogenetic Map19D2NCBI
cM Map1951.84NCBI
Casp7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81265,442,647 - 265,481,938 (+)NCBIGRCr8
mRatBN7.21255,437,438 - 255,476,737 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1255,437,172 - 255,476,729 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1263,654,318 - 263,686,579 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01270,360,357 - 270,392,618 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01263,006,435 - 263,038,671 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01277,190,557 - 277,242,779 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1277,190,964 - 277,242,774 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01284,572,208 - 284,623,736 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41262,689,300 - 262,721,591 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11262,900,344 - 262,932,633 (+)NCBI
Celera1251,144,026 - 251,176,065 (+)NCBICelera
Cytogenetic Map1q55NCBI
Casp7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543118,686,190 - 18,723,524 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543118,685,408 - 18,723,221 (+)NCBIChiLan1.0ChiLan1.0
CASP7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28125,557,882 - 125,609,366 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110125,563,218 - 125,614,702 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010110,273,318 - 110,324,800 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110113,707,188 - 113,758,630 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10113,707,780 - 113,758,626 (+)Ensemblpanpan1.1panPan2
CASP7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12824,599,866 - 24,630,018 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2824,599,493 - 24,628,668 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2824,751,150 - 24,781,371 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02825,131,618 - 25,161,826 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2825,131,720 - 25,161,823 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12824,688,961 - 24,719,167 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02824,696,885 - 24,727,323 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02824,896,252 - 24,926,727 (+)NCBIUU_Cfam_GSD_1.0
Casp7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721321,446,342 - 21,478,385 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364864,088,372 - 4,114,955 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364864,082,664 - 4,114,942 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CASP7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14124,019,164 - 124,050,365 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114124,017,776 - 124,050,369 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CASP7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19106,558,291 - 106,607,662 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9106,559,445 - 106,607,663 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604867,773,257 - 67,822,203 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Casp7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473732,852,835 - 32,887,069 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473732,853,354 - 32,888,881 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CASP7
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1 copy number loss See cases [RCV000052570] Chr10:107191100..118761489 [GRCh38]
Chr10:108950858..120521001 [GRCh37]
Chr10:108940848..120510991 [NCBI36]
Chr10:10q25.1-26.11
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1 copy number loss See cases [RCV000135960] Chr10:112074094..115537174 [GRCh38]
Chr10:113833852..117032437 [GRCh37]
Chr10:113823842..117286674 [NCBI36]
Chr10:10q25.2-25.3
pathogenic
GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3 copy number gain See cases [RCV000137511] Chr10:112701186..120970617 [GRCh38]
Chr10:114460945..122730130 [GRCh37]
Chr10:114450935..122720120 [NCBI36]
Chr10:10q25.2-26.12
likely pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1 copy number loss See cases [RCV000139783] Chr10:110804735..114884010 [GRCh38]
Chr10:112564493..116643769 [GRCh37]
Chr10:112554483..116633759 [NCBI36]
Chr10:10q25.2-25.3
likely pathogenic
GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1 copy number loss See cases [RCV000143371] Chr10:102732173..114085105 [GRCh38]
Chr10:104491930..115844864 [GRCh37]
Chr10:104481920..115834854 [NCBI36]
Chr10:10q24.32-25.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q25.3(chr10:115274398-115542099)x1 copy number loss See cases [RCV000447230] Chr10:115274398..115542099 [GRCh37]
Chr10:10q25.3
uncertain significance
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_001227.5(CASP7):c.501G>A (p.Arg167=) single nucleotide variant not provided [RCV000938913] Chr10:113725486 [GRCh38]
Chr10:115485245 [GRCh37]
Chr10:10q25.3
benign
GRCh37/hg19 10q25.3(chr10:115343286-115502332)x3 copy number gain not provided [RCV000847863] Chr10:115343286..115502332 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.865C>T (p.Pro289Ser) single nucleotide variant Inborn genetic diseases [RCV003249514] Chr10:113729493 [GRCh38]
Chr10:115489252 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.765C>G (p.Asp255Glu) single nucleotide variant not provided [RCV001641928] Chr10:113729393 [GRCh38]
Chr10:115489152 [GRCh37]
Chr10:10q25.3
benign
GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1 copy number loss not provided [RCV001827678] Chr10:107092654..117852548 [GRCh37]
Chr10:10q25.1-25.3
uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_001227.5(CASP7):c.44A>T (p.Asp15Val) single nucleotide variant Inborn genetic diseases [RCV002817346] Chr10:113697537 [GRCh38]
Chr10:115457296 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.859C>G (p.Gln287Glu) single nucleotide variant Inborn genetic diseases [RCV002762248] Chr10:113729487 [GRCh38]
Chr10:115489246 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.596C>T (p.Ser199Leu) single nucleotide variant Inborn genetic diseases [RCV002925809] Chr10:113726348 [GRCh38]
Chr10:115486107 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.103C>G (p.Leu35Val) single nucleotide variant Inborn genetic diseases [RCV002747999] Chr10:113697596 [GRCh38]
Chr10:115457355 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.864C>G (p.Ile288Met) single nucleotide variant Inborn genetic diseases [RCV002937003] Chr10:113729492 [GRCh38]
Chr10:115489251 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.512G>C (p.Cys171Ser) single nucleotide variant Inborn genetic diseases [RCV002989057] Chr10:113725497 [GRCh38]
Chr10:115485256 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.551A>G (p.Gln184Arg) single nucleotide variant Inborn genetic diseases [RCV002723755] Chr10:113725536 [GRCh38]
Chr10:115485295 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.25G>A (p.Glu9Lys) single nucleotide variant Inborn genetic diseases [RCV003203317] Chr10:113697518 [GRCh38]
Chr10:115457277 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.568G>A (p.Glu190Lys) single nucleotide variant Inborn genetic diseases [RCV003190803] Chr10:113726320 [GRCh38]
Chr10:115486079 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.256G>A (p.Val86Ile) single nucleotide variant Inborn genetic diseases [RCV003172788] Chr10:113721659 [GRCh38]
Chr10:115481418 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.101C>A (p.Ser34Tyr) single nucleotide variant Inborn genetic diseases [RCV003178677] Chr10:113697594 [GRCh38]
Chr10:115457353 [GRCh37]
Chr10:10q25.3
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_001227.5(CASP7):c.289C>T (p.Leu97Phe) single nucleotide variant Inborn genetic diseases [RCV003310113] Chr10:113721692 [GRCh38]
Chr10:115481451 [GRCh37]
Chr10:10q25.3
uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_001227.5(CASP7):c.867C>T (p.Pro289=) single nucleotide variant not provided [RCV003422902] Chr10:113729495 [GRCh38]
Chr10:115489254 [GRCh37]
Chr10:10q25.3
likely benign
NM_001227.5(CASP7):c.741C>T (p.Ser247=) single nucleotide variant Inborn genetic diseases [RCV003374307] Chr10:113729369 [GRCh38]
Chr10:115489128 [GRCh37]
Chr10:10q25.3
likely benign
NM_001227.5(CASP7):c.83G>A (p.Arg28Gln) single nucleotide variant Inborn genetic diseases [RCV003353593] Chr10:113697576 [GRCh38]
Chr10:115457335 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001227.5(CASP7):c.111-11664_111-11662del microsatellite not provided [RCV003422900] Chr10:113709363..113709365 [GRCh38]
Chr10:115469122..115469124 [GRCh37]
Chr10:10q25.3
likely benign
NM_001227.5(CASP7):c.1-5463C>T single nucleotide variant not provided [RCV003422899] Chr10:113692031 [GRCh38]
Chr10:115451790 [GRCh37]
Chr10:10q25.3
likely benign
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_001227.5(CASP7):c.541T>C (p.Phe181Leu) single nucleotide variant not provided [RCV003422901] Chr10:113725526 [GRCh38]
Chr10:115485285 [GRCh37]
Chr10:10q25.3
likely benign
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3 copy number gain not specified [RCV003986891] Chr10:107129993..123817654 [GRCh37]
Chr10:10q25.1-26.13
likely pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR106Bhsa-miR-106b-5pOncomiRDBexternal_infoNANA22986525

Predicted Target Of
Summary Value
Count of predictions:3056
Count of miRNA genes:662
Interacting mature miRNAs:729
Transcripts:ENST00000345633, ENST00000369315, ENST00000369318, ENST00000369321, ENST00000369331, ENST00000429617, ENST00000452490, ENST00000468790, ENST00000487232
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D10S1306E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710115,490,159 - 115,490,256UniSTSGRCh37
Build 3610115,480,149 - 115,480,246RGDNCBI36
Celera10109,217,517 - 109,217,614RGD
Cytogenetic Map10q25UniSTS
HuRef10109,117,978 - 109,118,075UniSTS
RH18047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710115,490,186 - 115,490,421UniSTSGRCh37
Build 3610115,480,176 - 115,480,411RGDNCBI36
Celera10109,217,544 - 109,217,779RGD
Cytogenetic Map10q25UniSTS
HuRef10109,118,005 - 109,118,240UniSTS
GeneMap99-GB4 RH Map10515.54UniSTS
CASP7_81  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710115,489,919 - 115,490,760UniSTSGRCh37
Build 3610115,479,909 - 115,480,750RGDNCBI36
Celera10109,217,277 - 109,218,118RGD
HuRef10109,117,738 - 109,118,579UniSTS
SHGC-33054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710115,490,507 - 115,490,656UniSTSGRCh37
Build 3610115,480,497 - 115,480,646RGDNCBI36
Celera10109,217,865 - 109,218,014RGD
Cytogenetic Map10q25UniSTS
HuRef10109,118,326 - 109,118,475UniSTS
TNG Radiation Hybrid Map1056214.0UniSTS
Stanford-G3 RH Map105267.0UniSTS
GeneMap99-GB4 RH Map10516.88UniSTS
Whitehead-RH Map10617.8UniSTS
NCBI RH Map101234.5UniSTS
GeneMap99-G3 RH Map105503.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2142 1294 1092 413 1174 260 3244 900 907 310 1045 1502 166 1181 1943 2
Low 293 1676 631 210 757 204 1111 1293 2803 108 403 106 6 1 23 845 2 1
Below cutoff 3 20 2 1 19 1 1 3 17 1 9 5 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB451281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL627395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU130224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM976488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP429646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ006259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ007179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX487250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC332144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC364916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC375817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC384804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC405356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC407017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM887522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U37448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U37449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U39613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U67206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U67320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000345633   ⟹   ENSP00000298701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,679,669 - 113,730,903 (+)Ensembl
RefSeq Acc Id: ENST00000369315   ⟹   ENSP00000358321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,679,940 - 113,730,903 (+)Ensembl
RefSeq Acc Id: ENST00000369318   ⟹   ENSP00000358324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,679,912 - 113,730,905 (+)Ensembl
RefSeq Acc Id: ENST00000369321   ⟹   ENSP00000358327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,679,669 - 113,730,907 (+)Ensembl
RefSeq Acc Id: ENST00000369331   ⟹   ENSP00000358337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,679,204 - 113,730,896 (+)Ensembl
RefSeq Acc Id: ENST00000429617   ⟹   ENSP00000400094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,679,183 - 113,726,419 (+)Ensembl
RefSeq Acc Id: ENST00000452490   ⟹   ENSP00000398107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,709,345 - 113,730,907 (+)Ensembl
RefSeq Acc Id: ENST00000468790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,719,210 - 113,721,686 (+)Ensembl
RefSeq Acc Id: ENST00000487232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,720,998 - 113,729,503 (+)Ensembl
RefSeq Acc Id: ENST00000614447   ⟹   ENSP00000478285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,679,669 - 113,730,907 (+)Ensembl
RefSeq Acc Id: ENST00000621345   ⟹   ENSP00000480584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,679,162 - 113,730,907 (+)Ensembl
RefSeq Acc Id: ENST00000621607   ⟹   ENSP00000478999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,691,972 - 113,730,907 (+)Ensembl
RefSeq Acc Id: ENST00000672138   ⟹   ENSP00000500735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10113,709,261 - 113,730,903 (+)Ensembl
RefSeq Acc Id: NM_001227   ⟹   NP_001218
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,679,912 - 113,730,905 (+)NCBI
GRCh3710115,438,921 - 115,490,668 (+)NCBI
Build 3610115,429,416 - 115,480,654 (+)NCBI Archive
HuRef10109,065,803 - 109,118,487 (+)NCBI
CHM1_110115,721,459 - 115,772,694 (+)NCBI
T2T-CHM13v2.010114,571,754 - 114,622,766 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001267056   ⟹   NP_001253985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,679,194 - 113,730,905 (+)NCBI
HuRef10109,065,803 - 109,118,487 (+)NCBI
CHM1_110115,720,952 - 115,772,694 (+)NCBI
T2T-CHM13v2.010114,571,036 - 114,622,766 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001267057   ⟹   NP_001253986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,679,669 - 113,730,909 (+)NCBI
GRCh3710115,438,921 - 115,490,668 (+)NCBI
HuRef10109,065,803 - 109,118,487 (+)NCBI
CHM1_110115,721,459 - 115,772,694 (+)NCBI
T2T-CHM13v2.010114,571,511 - 114,622,770 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001267058   ⟹   NP_001253987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,709,378 - 113,730,905 (+)NCBI
GRCh3710115,438,921 - 115,490,668 (+)NCBI
HuRef10109,065,803 - 109,118,487 (+)NCBI
CHM1_110115,751,129 - 115,772,694 (+)NCBI
T2T-CHM13v2.010114,601,235 - 114,622,766 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320911   ⟹   NP_001307840
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,679,194 - 113,730,905 (+)NCBI
CHM1_110115,720,952 - 115,772,694 (+)NCBI
T2T-CHM13v2.010114,571,036 - 114,622,766 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033338   ⟹   NP_203124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,679,912 - 113,730,905 (+)NCBI
GRCh3710115,438,921 - 115,490,668 (+)NCBI
Build 3610115,429,416 - 115,480,654 (+)NCBI Archive
HuRef10109,065,803 - 109,118,487 (+)NCBI
CHM1_110115,721,459 - 115,772,694 (+)NCBI
T2T-CHM13v2.010114,571,754 - 114,622,766 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033339   ⟹   NP_203125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,679,912 - 113,730,905 (+)NCBI
GRCh3710115,438,921 - 115,490,668 (+)NCBI
Build 3610115,429,416 - 115,480,654 (+)NCBI Archive
HuRef10109,065,803 - 109,118,487 (+)NCBI
CHM1_110115,721,459 - 115,772,694 (+)NCBI
T2T-CHM13v2.010114,571,754 - 114,622,766 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033340   ⟹   NP_203126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,679,194 - 113,730,905 (+)NCBI
GRCh3710115,438,921 - 115,490,668 (+)NCBI
Build 3610115,428,925 - 115,480,654 (+)NCBI Archive
HuRef10109,065,803 - 109,118,487 (+)NCBI
CHM1_110115,720,952 - 115,772,694 (+)NCBI
T2T-CHM13v2.010114,571,036 - 114,622,766 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718017   ⟹   XP_006718080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,691,997 - 113,730,909 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540260   ⟹   XP_011538562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,719,224 - 113,730,909 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016763   ⟹   XP_016872252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,679,912 - 113,730,909 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054366903   ⟹   XP_054222878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010114,571,495 - 114,622,770 (+)NCBI
RefSeq Acc Id: XM_054366904   ⟹   XP_054222879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010114,583,860 - 114,622,770 (+)NCBI
RefSeq Acc Id: XM_054366905   ⟹   XP_054222880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010114,610,423 - 114,622,770 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001218 (Get FASTA)   NCBI Sequence Viewer  
  NP_001253985 (Get FASTA)   NCBI Sequence Viewer  
  NP_001253986 (Get FASTA)   NCBI Sequence Viewer  
  NP_001253987 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307840 (Get FASTA)   NCBI Sequence Viewer  
  NP_203124 (Get FASTA)   NCBI Sequence Viewer  
  NP_203125 (Get FASTA)   NCBI Sequence Viewer  
  NP_203126 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718080 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538562 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872252 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222878 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222879 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222880 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50303 (Get FASTA)   NCBI Sequence Viewer  
  AAC50304 (Get FASTA)   NCBI Sequence Viewer  
  AAC50346 (Get FASTA)   NCBI Sequence Viewer  
  AAC50352 (Get FASTA)   NCBI Sequence Viewer  
  AAC51153 (Get FASTA)   NCBI Sequence Viewer  
  AAF21460 (Get FASTA)   NCBI Sequence Viewer  
  AAH15799 (Get FASTA)   NCBI Sequence Viewer  
  AAP35329 (Get FASTA)   NCBI Sequence Viewer  
  BAG61059 (Get FASTA)   NCBI Sequence Viewer  
  BAG62277 (Get FASTA)   NCBI Sequence Viewer  
  BAG62964 (Get FASTA)   NCBI Sequence Viewer  
  BAG70095 (Get FASTA)   NCBI Sequence Viewer  
  BAG70227 (Get FASTA)   NCBI Sequence Viewer  
  CAV28504 (Get FASTA)   NCBI Sequence Viewer  
  EAW49494 (Get FASTA)   NCBI Sequence Viewer  
  EAW49495 (Get FASTA)   NCBI Sequence Viewer  
  EAW49496 (Get FASTA)   NCBI Sequence Viewer  
  EAW49497 (Get FASTA)   NCBI Sequence Viewer  
  EAW49498 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000298701
  ENSP00000298701.7
  ENSP00000358321.1
  ENSP00000358324
  ENSP00000358324.4
  ENSP00000358327
  ENSP00000358327.3
  ENSP00000358337
  ENSP00000358337.3
  ENSP00000398107
  ENSP00000398107.2
  ENSP00000400094.1
  ENSP00000478285.1
  ENSP00000478999
  ENSP00000478999.1
  ENSP00000480584
  ENSP00000480584.1
  ENSP00000500735.1
GenBank Protein P55210 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_203126   ⟸   NM_033340
- Peptide Label: isoform beta
- UniProtKB: P55210 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_203124   ⟸   NM_033338
- Peptide Label: isoform delta
- UniProtKB: P55210 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_203125   ⟸   NM_033339
- Peptide Label: isoform alpha precursor
- UniProtKB: Q5SVL3 (UniProtKB/Swiss-Prot),   Q5SVL0 (UniProtKB/Swiss-Prot),   Q53YD5 (UniProtKB/Swiss-Prot),   Q13364 (UniProtKB/Swiss-Prot),   D3DRB8 (UniProtKB/Swiss-Prot),   B5BU45 (UniProtKB/Swiss-Prot),   B4DQU7 (UniProtKB/Swiss-Prot),   Q96BA0 (UniProtKB/Swiss-Prot),   P55210 (UniProtKB/Swiss-Prot),   B4DUB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001218   ⟸   NM_001227
- Peptide Label: isoform alpha precursor
- UniProtKB: Q5SVL3 (UniProtKB/Swiss-Prot),   Q5SVL0 (UniProtKB/Swiss-Prot),   Q53YD5 (UniProtKB/Swiss-Prot),   Q13364 (UniProtKB/Swiss-Prot),   D3DRB8 (UniProtKB/Swiss-Prot),   B5BU45 (UniProtKB/Swiss-Prot),   B4DQU7 (UniProtKB/Swiss-Prot),   Q96BA0 (UniProtKB/Swiss-Prot),   P55210 (UniProtKB/Swiss-Prot),   B4DUB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001253985   ⟸   NM_001267056
- Peptide Label: isoform alpha precursor
- UniProtKB: Q5SVL3 (UniProtKB/Swiss-Prot),   Q5SVL0 (UniProtKB/Swiss-Prot),   Q53YD5 (UniProtKB/Swiss-Prot),   Q13364 (UniProtKB/Swiss-Prot),   D3DRB8 (UniProtKB/Swiss-Prot),   B5BU45 (UniProtKB/Swiss-Prot),   B4DQU7 (UniProtKB/Swiss-Prot),   Q96BA0 (UniProtKB/Swiss-Prot),   P55210 (UniProtKB/Swiss-Prot),   B4DUB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001253986   ⟸   NM_001267057
- Peptide Label: isoform e
- UniProtKB: A0A0A0MRL7 (UniProtKB/TrEMBL),   B4DWA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001253987   ⟸   NM_001267058
- Peptide Label: isoform f
- UniProtKB: A0A5F9ZHZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718080   ⟸   XM_006718017
- Peptide Label: isoform X2
- UniProtKB: B4DWA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538562   ⟸   XM_011540260
- Peptide Label: isoform X3
- UniProtKB: A0A5F9ZHZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307840   ⟸   NM_001320911
- Peptide Label: isoform g
- UniProtKB: B4DWA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872252   ⟸   XM_017016763
- Peptide Label: isoform X1
- UniProtKB: B4DUB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000298701   ⟸   ENST00000345633
RefSeq Acc Id: ENSP00000478999   ⟸   ENST00000621607
RefSeq Acc Id: ENSP00000480584   ⟸   ENST00000621345
RefSeq Acc Id: ENSP00000398107   ⟸   ENST00000452490
RefSeq Acc Id: ENSP00000400094   ⟸   ENST00000429617
RefSeq Acc Id: ENSP00000478285   ⟸   ENST00000614447
RefSeq Acc Id: ENSP00000358337   ⟸   ENST00000369331
RefSeq Acc Id: ENSP00000358327   ⟸   ENST00000369321
RefSeq Acc Id: ENSP00000358321   ⟸   ENST00000369315
RefSeq Acc Id: ENSP00000358324   ⟸   ENST00000369318
RefSeq Acc Id: ENSP00000500735   ⟸   ENST00000672138
RefSeq Acc Id: XP_054222878   ⟸   XM_054366903
- Peptide Label: isoform X1
- UniProtKB: B4DUB5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222879   ⟸   XM_054366904
- Peptide Label: isoform X2
- UniProtKB: B4DWA2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222880   ⟸   XM_054366905
- Peptide Label: isoform X3
- UniProtKB: A0A5F9ZHZ6 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55210-F1-model_v2 AlphaFold P55210 1-303 view protein structure

Promoters
RGD ID:7218713
Promoter ID:EPDNEW_H15101
Type:initiation region
Name:CASP7_2
Description:caspase 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15102  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,679,194 - 113,679,254EPDNEW
RGD ID:7218711
Promoter ID:EPDNEW_H15102
Type:initiation region
Name:CASP7_1
Description:caspase 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15101  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,679,912 - 113,679,972EPDNEW
RGD ID:6787441
Promoter ID:HG_KWN:11222
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000369316,   ENST00000369319,   ENST00000393012,   NM_001227,   NM_033338,   NM_033339,   NM_033340,   OTTHUMT00000050438,   UC001LAN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3610115,429,076 - 115,429,727 (+)MPROMDB
RGD ID:6787438
Promoter ID:HG_KWN:11225
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000050441
Position:
Human AssemblyChrPosition (strand)Source
Build 3610115,468,716 - 115,469,216 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1508 AgrOrtholog
COSMIC CASP7 COSMIC
Ensembl Genes ENSG00000165806 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000345633 ENTREZGENE
  ENST00000345633.8 UniProtKB/Swiss-Prot
  ENST00000369315.5 UniProtKB/Swiss-Prot
  ENST00000369318 ENTREZGENE
  ENST00000369318.8 UniProtKB/Swiss-Prot
  ENST00000369321 ENTREZGENE
  ENST00000369321.6 UniProtKB/TrEMBL
  ENST00000369331 ENTREZGENE
  ENST00000369331.8 UniProtKB/Swiss-Prot
  ENST00000429617.5 UniProtKB/TrEMBL
  ENST00000452490 ENTREZGENE
  ENST00000452490.3 UniProtKB/Swiss-Prot
  ENST00000614447.4 UniProtKB/Swiss-Prot
  ENST00000621345 ENTREZGENE
  ENST00000621345.4 UniProtKB/Swiss-Prot
  ENST00000621607 ENTREZGENE
  ENST00000621607.4 UniProtKB/Swiss-Prot
  ENST00000672138.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1460 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Caspase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165806 GTEx
HGNC ID HGNC:1508 ENTREZGENE
Human Proteome Map CASP7 Human Proteome Map
InterPro Caspase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Caspase_cys_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Caspase_his_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14_caspase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14_p10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14_p20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:840 UniProtKB/Swiss-Prot
NCBI Gene 840 ENTREZGENE
OMIM 601761 OMIM
PANTHER PTHR10454 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10454:SF31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_C14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26091 PharmGKB
PIRSF Caspase_ICE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS IL1BCENZYME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CASPASE_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE_P10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE_P20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CASc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRL7 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZHZ6 ENTREZGENE, UniProtKB/TrEMBL
  B4DQU7 ENTREZGENE
  B4DUB5 ENTREZGENE, UniProtKB/TrEMBL
  B4DWA2 ENTREZGENE, UniProtKB/TrEMBL
  B5BU45 ENTREZGENE
  CASP7_HUMAN UniProtKB/Swiss-Prot
  D3DRB8 ENTREZGENE
  P55210 ENTREZGENE
  Q13364 ENTREZGENE
  Q53YD5 ENTREZGENE
  Q5SVL0 ENTREZGENE
  Q5SVL2_HUMAN UniProtKB/TrEMBL
  Q5SVL3 ENTREZGENE
  Q96BA0 ENTREZGENE
UniProt Secondary B4DQU7 UniProtKB/Swiss-Prot
  B5BU45 UniProtKB/Swiss-Prot
  D3DRB8 UniProtKB/Swiss-Prot
  Q13364 UniProtKB/Swiss-Prot
  Q53YD5 UniProtKB/Swiss-Prot
  Q5SVL0 UniProtKB/Swiss-Prot
  Q5SVL3 UniProtKB/Swiss-Prot
  Q96BA0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 CASP7  caspase 7    caspase 7, apoptosis-related cysteine peptidase  Symbol and/or name change 5135510 APPROVED