HSPB1 (heat shock protein family B (small) member 1) - Rat Genome Database

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Gene: HSPB1 (heat shock protein family B (small) member 1) Homo sapiens
Analyze
Symbol: HSPB1
Name: heat shock protein family B (small) member 1
RGD ID: 732480
HGNC Page HGNC
Description: Exhibits several functions, including protein folding chaperone; protein homodimerization activity; and protein kinase binding activity. Involved in several processes, including anterograde axonal protein transport; positive regulation of angiogenesis; and positive regulation of endothelial cell migration. Localizes to cytoplasm and nucleus. Implicated in Charcot-Marie-Tooth disease axonal type 2F; distal hereditary motor neuropathy type 2B; pancreatic cancer; and sarcoma. Biomarker of focal segmental glomerulosclerosis and rheumatoid arthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 28 kDa heat shock protein; CMT2F; DKFZp586P1322; epididymis secretory protein Li 102; estrogen-regulated 24 kDa protein; heat shock 27 kDa protein; heat shock 27kD protein 1; heat shock 27kDa protein 1; heat shock protein beta-1; HEL-S-102; HMN2B; HS.76067; HSP 27; Hsp25; HSP27; HSP28; SRP27; stress-responsive protein 27
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: HSPB1P1   HSPB1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl776,302,673 - 76,304,295 (+)EnsemblGRCh38hg38GRCh38
GRCh38776,302,673 - 76,304,292 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37775,931,990 - 75,933,609 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36775,769,859 - 75,771,548 (+)NCBINCBI36hg18NCBI36
Build 34775,576,573 - 75,578,263NCBI
Celera770,800,374 - 70,802,113 (+)NCBI
Cytogenetic Map7q11.23NCBI
HuRef771,018,196 - 71,019,935 (+)NCBIHuRef
CHM1_1775,861,968 - 75,863,707 (+)NCBICHM1_1
CRA_TCAGchr7v2775,264,939 - 75,266,678 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-lariciresinol  (EXP)
(+)-pilocarpine  (ISO)
(+)-schisandrin B  (ISO)
(-)-lariciresinol  (EXP)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
(S)-amphetamine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-Hydroxypyrene  (EXP)
1-naphthyl isothiocyanate  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-amino-4,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
2-nitrofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3'-diindolylmethane  (EXP)
3,3'-Thiobispropanoic acid  (EXP)
3-Hydroxybenzo[a]pyrene  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (EXP)
4-nitroquinoline N-oxide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-formyltetrahydrofolic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (ISO)
acrylamide  (EXP,ISO)
afimoxifene  (EXP)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (EXP,ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-hexachlorocyclohexane  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
amphibole asbestos  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
arecoline  (ISO)
argipressin  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
ATP  (ISO)
atrazine  (EXP)
Aurin  (EXP)
azetidinecarboxylic acid  (EXP)
benomyl  (ISO)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
bortezomib  (EXP,ISO)
bucladesine  (EXP,ISO)
bufalin  (EXP)
butan-1-ol  (EXP)
butyric acid  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
capsaicin  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
carboplatin  (ISO)
chlorogenic acid  (EXP)
chlorohydrocarbon  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
chromium atom  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP,ISO)
corticosterone  (ISO)
CU-O LINKAGE  (EXP)
cumene hydroperoxide  (EXP)
curcumin  (ISO)
cyclophosphamide  (ISO)
D-glucose  (EXP,ISO)
DDE  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
Dienochlor  (EXP)
diethylstilbestrol  (ISO)
dihydroxyacetone  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
disulfiram  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (EXP,ISO)
ethanol  (ISO)
fenofibrate  (ISO)
filipin III  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folpet  (ISO)
formaldehyde  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
glucose  (EXP,ISO)
glutathione  (ISO)
gold atom  (EXP,ISO)
gold(0)  (EXP,ISO)
graphite  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
imidacloprid  (EXP)
indometacin  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
isobutanol  (EXP)
isoprenaline  (ISO)
kojic acid  (ISO)
L-ascorbic acid  (EXP,ISO)
lead diacetate  (ISO)
lead(II) chloride  (EXP)
leflunomide  (ISO)
linalool  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (EXP)
LY294002  (EXP)
menadione  (EXP)
mercury dichloride  (ISO)
metacetamol  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methotrexate  (EXP,ISO)
methoxyacetic acid  (ISO)
methyl beta-cyclodextrin  (ISO)
methylglyoxal  (EXP)
methylmercury chloride  (ISO)
microcystin-LR  (EXP,ISO)
Monobutylphthalate  (ISO)
monocrotaline  (ISO)
monosodium L-glutamate  (ISO)
morphine  (ISO)
motexafin gadolinium  (EXP)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-BUTYL-11-[(7R,8R,9S,13S,14S,17S)-3,17-DIHYDROXY-13-METHYL-7,8,9,11,12,13,14,15,16,17-DECAHYDRO-6H-CYCLOPENTA[A]PHENANTHREN-7-YL]-N-METHYLUNDECANAMIDE  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
neodymium atom  (EXP)
nickel atom  (ISO)
nicotinic acid  (ISO)
nimesulide  (ISO)
Nonylphenol  (ISO)
O-acetyl-L-carnitine  (ISO)
ochratoxin A  (EXP)
okadaic acid  (EXP)
Osajin  (EXP)
oxaliplatin  (ISO)
oxidopamine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentobarbital  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenethyl caffeate  (ISO)
phenethyl isothiocyanate  (EXP,ISO)
phenobarbital  (ISO)
phenytoin  (ISO)
PhIP  (ISO)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
Pomiferin  (EXP)
potassium dichromate  (EXP)
potassium hydroxide  (EXP)
progesterone  (ISO)
propiconazole  (ISO)
puerarin  (EXP)
quercetin  (EXP,ISO)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
rifampicin  (ISO)
Rosavin  (EXP)
rotenone  (ISO)
SB 203580  (EXP,ISO)
SCH 23390  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP,ISO)
streptozocin  (ISO)
sunitinib  (EXP)
superoxide  (ISO)
tamoxifen  (EXP,ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
thiopental  (EXP)
thiostrepton  (EXP)
Tiron  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zearalenone  (EXP)
zinc acetate  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (ISO)
anterograde axonal protein transport  (IMP)
cellular response to butyrate  (ISO)
cellular response to hydrogen peroxide  (ISO)
cellular response to interleukin-11  (ISO)
cellular response to vascular endothelial growth factor stimulus  (IMP)
chaperone-mediated protein folding  (IMP)
female pregnancy  (ISO)
intracellular signal transduction  (IMP)
negative regulation of apoptotic process  (TAS)
negative regulation of apoptotic signaling pathway  (ISO)
negative regulation of oxidative stress-induced cell death  (ISO)
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  (ISS)
negative regulation of protein kinase activity  (ISS)
negative regulation of protein serine/threonine kinase activity  (IEA)
negative regulation of regulatory T cell differentiation  (ISO)
platelet aggregation  (HMP)
positive regulation of angiogenesis  (IMP)
positive regulation of blood vessel endothelial cell migration  (IMP)
positive regulation of endothelial cell chemotaxis  (IMP)
positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway  (IMP)
positive regulation of interleukin-1 beta production  (ISS)
positive regulation of neuron projection development  (ISO)
positive regulation of tumor necrosis factor production  (ISS)
regulation of autophagy  (NAS)
regulation of I-kappaB kinase/NF-kappaB signaling  (ISS)
regulation of mRNA stability  (TAS)
regulation of protein phosphorylation  (IMP)
regulation of translational initiation  (TAS)
response to angiotensin  (ISO)
response to ischemia  (ISO)
response to muscle stretch  (ISO)
response to unfolded protein  (NAS)
response to virus  (IEP)
retina homeostasis  (HEP)
viral process  (IEA)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Bechtold DA and Brown IR, Neurochem Res 2003 Aug;28(8):1163-73.
2. Filipcik P, etal., Biochim Biophys Acta. 2015 Jul;1852(7):1219-29. doi: 10.1016/j.bbadis.2015.03.003. Epub 2015 Mar 12.
3. Fujisawa K, etal., Exp Toxicol Pathol. 2013 Jul;65(5):469-76. doi: 10.1016/j.etp.2012.02.001. Epub 2012 Mar 12.
4. GOA_HUMAN data from the GO Consortium
5. Gong Y, etal., Stroke. 2004 Nov;35(11):2571-5. Epub 2004 Oct 7.
6. He Y, etal., Biosci Rep. 2018 Nov 7;38(6). pii: BSR20180895. doi: 10.1042/BSR20180895. Print 2018 Dec 21.
7. Heinrich JC, etal., J Cancer Res Clin Oncol. 2011 Sep;137(9):1349-61. doi: 10.1007/s00432-011-1005-1. Epub 2011 Jul 22.
8. Imura T, etal., J Neurosci. 1999 Nov 15;19(22):9768-79.
9. Joachim SC, etal., Invest Ophthalmol Vis Sci. 2011 Jun 1;52(6):3468-74. doi: 10.1167/iovs.10-5763.
10. OMIM Disease Annotation Pipeline
11. Pipeline to import KEGG annotations from KEGG into RGD
12. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. RGD automated import pipeline for gene-chemical interactions
14. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Sanchez-Nino MD, etal., Lab Invest. 2012 Jan;92(1):32-45. doi: 10.1038/labinvest.2011.138. Epub 2011 Sep 19.
16. Sanz O, etal., Glia. 2001 Dec;36(3):259-70.
17. Sedlackova L, etal., Scand J Rheumatol. 2011;40(5):354-7. doi: 10.3109/03009742.2011.552522. Epub 2011 Mar 21.
18. Tachibana T, etal., Neurosci Lett. 2002 Jul 19;327(2):133-7.
19. Tadros SF, etal., PLoS One. 2014 Feb 28;9(2):e90279. doi: 10.1371/journal.pone.0090279. eCollection 2014.
Additional References at PubMed
PMID:1332886   PMID:1560006   PMID:1602151   PMID:1730670   PMID:1763035   PMID:2243808   PMID:2295696   PMID:2743305   PMID:3714473   PMID:7799959   PMID:8093612   PMID:8325890  
PMID:8619474   PMID:8774846   PMID:8995385   PMID:9110174   PMID:9344682   PMID:9514881   PMID:9628874   PMID:10383393   PMID:10386584   PMID:10421803   PMID:10629618   PMID:10751411  
PMID:10777697   PMID:10859165   PMID:10908726   PMID:10978313   PMID:10980706   PMID:11003656   PMID:11042204   PMID:11158571   PMID:11193028   PMID:11342557   PMID:11528513   PMID:11546764  
PMID:11700327   PMID:11740592   PMID:11779227   PMID:11784858   PMID:11836590   PMID:11839738   PMID:11844797   PMID:12087068   PMID:12100179   PMID:12477932   PMID:12482203   PMID:12489163  
PMID:12493773   PMID:12506142   PMID:12601044   PMID:12740362   PMID:12829704   PMID:12838549   PMID:12853948   PMID:12855565   PMID:12897149   PMID:12917439   PMID:14499342   PMID:14594798  
PMID:14688255   PMID:14715258   PMID:15013707   PMID:15122253   PMID:15122254   PMID:15161933   PMID:15265704   PMID:15272315   PMID:15274119   PMID:15302935   PMID:15342556   PMID:15489334  
PMID:15542604   PMID:15581903   PMID:15649839   PMID:15657067   PMID:15662019   PMID:15692053   PMID:15728188   PMID:15731106   PMID:15790570   PMID:15806174   PMID:15850461   PMID:15911090  
PMID:15952740   PMID:15969449   PMID:15976317   PMID:16039988   PMID:16087758   PMID:16097034   PMID:16114012   PMID:16126176   PMID:16130169   PMID:16159877   PMID:16169070   PMID:16196087  
PMID:16215937   PMID:16240287   PMID:16339078   PMID:16340246   PMID:16368711   PMID:16400691   PMID:16407830   PMID:16436384   PMID:16487519   PMID:16548883   PMID:16565220   PMID:16574891  
PMID:16598774   PMID:16624816   PMID:16790501   PMID:16815975   PMID:16840786   PMID:16906418   PMID:16916647   PMID:16923754   PMID:16935933   PMID:16964243   PMID:17004241   PMID:17024176  
PMID:17081983   PMID:17110338   PMID:17170118   PMID:17184779   PMID:17202147   PMID:17206383   PMID:17213227   PMID:17254968   PMID:17277149   PMID:17314511   PMID:17342744   PMID:17350752  
PMID:17353931   PMID:17446863   PMID:17510053   PMID:17522120   PMID:17570131   PMID:17576382   PMID:17597071   PMID:17616692   PMID:17622316   PMID:17623298   PMID:17623484   PMID:17650072  
PMID:17661346   PMID:17673262   PMID:17823891   PMID:17915561   PMID:17916631   PMID:17928890   PMID:17949744   PMID:17974989   PMID:18007587   PMID:18031542   PMID:18066588   PMID:18089808  
PMID:18096692   PMID:18167130   PMID:18167217   PMID:18320359   PMID:18326031   PMID:18330356   PMID:18344398   PMID:18390476   PMID:18418731   PMID:18423118   PMID:18440775   PMID:18442089  
PMID:18457437   PMID:18465403   PMID:18472181   PMID:18477563   PMID:18573886   PMID:18587268   PMID:18692580   PMID:18720982   PMID:18781797   PMID:18800238   PMID:18832141   PMID:18949417  
PMID:18950704   PMID:18952241   PMID:19020532   PMID:19056867   PMID:19088045   PMID:19166925   PMID:19176359   PMID:19199708   PMID:19214136   PMID:19275587   PMID:19335999   PMID:19350847  
PMID:19373869   PMID:19384818   PMID:19461484   PMID:19464326   PMID:19506078   PMID:19540014   PMID:19597476   PMID:19615732   PMID:19643972   PMID:19651786   PMID:19656944   PMID:19675578  
PMID:19707199   PMID:19738201   PMID:19767773   PMID:19842058   PMID:19952398   PMID:19955928   PMID:19961396   PMID:20007907   PMID:20054128   PMID:20093746   PMID:20149037   PMID:20178975  
PMID:20209605   PMID:20231684   PMID:20299368   PMID:20301462   PMID:20301532   PMID:20304146   PMID:20348541   PMID:20363977   PMID:20378850   PMID:20382164   PMID:20385876   PMID:20410505  
PMID:20439495   PMID:20462503   PMID:20467437   PMID:20491124   PMID:20514530   PMID:20540527   PMID:20557877   PMID:20618440   PMID:20694452   PMID:20694586   PMID:20714862   PMID:20863832  
PMID:21081267   PMID:21084594   PMID:21107776   PMID:21119665   PMID:21131586   PMID:21139048   PMID:21145461   PMID:21150319   PMID:21157431   PMID:21208199   PMID:21245386   PMID:21335933  
PMID:21423176   PMID:21423207   PMID:21427224   PMID:21469165   PMID:21514288   PMID:21565611   PMID:21566277   PMID:21575178   PMID:21585617   PMID:21641913   PMID:21670152   PMID:21679777  
PMID:21731611   PMID:21784846   PMID:21800051   PMID:21853274   PMID:21888831   PMID:21905118   PMID:21906983   PMID:21909836   PMID:21937138   PMID:21961414   PMID:21963094   PMID:21967197  
PMID:21983720   PMID:21987572   PMID:21988832   PMID:21989268   PMID:22004109   PMID:22019951   PMID:22023707   PMID:22031759   PMID:22031878   PMID:22032827   PMID:22050627   PMID:22057845  
PMID:22114076   PMID:22176143   PMID:22178446   PMID:22179576   PMID:22185976   PMID:22210387   PMID:22238643   PMID:22264079   PMID:22272318   PMID:22304920   PMID:22350794   PMID:22360420  
PMID:22362414   PMID:22365833   PMID:22465083   PMID:22521462   PMID:22534325   PMID:22535481   PMID:22569359   PMID:22608953   PMID:22623428   PMID:22647853   PMID:22658674   PMID:22664934  
PMID:22677112   PMID:22734906   PMID:22742457   PMID:22886594   PMID:22887120   PMID:22907762   PMID:22939629   PMID:22971995   PMID:22974980   PMID:22982087   PMID:22993064   PMID:23000965  
PMID:23026841   PMID:23080524   PMID:23085658   PMID:23155000   PMID:23165430   PMID:23185379   PMID:23188086   PMID:23246001   PMID:23264215   PMID:23272104   PMID:23357534   PMID:23374503  
PMID:23376485   PMID:23382103   PMID:23383273   PMID:23397142   PMID:23402259   PMID:23404246   PMID:23414517   PMID:23425286   PMID:23438482   PMID:23443559   PMID:23453029   PMID:23459991  
PMID:23469976   PMID:23492367   PMID:23530064   PMID:23532854   PMID:23533145   PMID:23576398   PMID:23580065   PMID:23667531   PMID:23728742   PMID:23767669   PMID:23804239   PMID:23826100  
PMID:23848600   PMID:23853530   PMID:23948568   PMID:23963299   PMID:23979707   PMID:23996744   PMID:24061637   PMID:24113772   PMID:24126416   PMID:24175767   PMID:24189400   PMID:24222130  
PMID:24239511   PMID:24252613   PMID:24280570   PMID:24308965   PMID:24332808   PMID:24337577   PMID:24391005   PMID:24391762   PMID:24403454   PMID:24457600   PMID:24550385   PMID:24626937  
PMID:24654937   PMID:24657165   PMID:24660549   PMID:24680694   PMID:24686082   PMID:24715760   PMID:24748206   PMID:24798191   PMID:24802256   PMID:24804299   PMID:24816797   PMID:24831009  
PMID:24879379   PMID:24882106   PMID:24918749   PMID:24950183   PMID:24982356   PMID:25036637   PMID:25046655   PMID:25088881   PMID:25130271   PMID:25135354   PMID:25147182   PMID:25188333  
PMID:25193387   PMID:25202074   PMID:25230790   PMID:25231055   PMID:25241761   PMID:25277244   PMID:25324306   PMID:25331547   PMID:25332102   PMID:25519015   PMID:25529454   PMID:25547330  
PMID:25583479   PMID:25615626   PMID:25620081   PMID:25655337   PMID:25728673   PMID:25740245   PMID:25793600   PMID:25796446   PMID:25811031   PMID:25814672   PMID:25852190   PMID:25900982  
PMID:25921289   PMID:25959826   PMID:25962073   PMID:25963833   PMID:25965061   PMID:26046355   PMID:26063949   PMID:26092729   PMID:26108672   PMID:26151374   PMID:26169728   PMID:26186194  
PMID:26209609   PMID:26214432   PMID:26217791   PMID:26256887   PMID:26336106   PMID:26344197   PMID:26348464   PMID:26431426   PMID:26434601   PMID:26496610   PMID:26616734   PMID:26618866  
PMID:26627832   PMID:26648539   PMID:26694816   PMID:26711786   PMID:26739047   PMID:26744531   PMID:26761580   PMID:26782567   PMID:26805817   PMID:26831064   PMID:26841866   PMID:26859835  
PMID:26867010   PMID:26872057   PMID:26874728   PMID:26874923   PMID:26895107   PMID:26931434   PMID:26935030   PMID:26941848   PMID:26970173   PMID:26972000   PMID:27022067   PMID:27029009  
PMID:27067668   PMID:27110324   PMID:27178349   PMID:27179757   PMID:27185187   PMID:27187154   PMID:27187380   PMID:27190988   PMID:27241641   PMID:27354589   PMID:27354654   PMID:27371349  
PMID:27375898   PMID:27432908   PMID:27444754   PMID:27449291   PMID:27451881   PMID:27462432   PMID:27540972   PMID:27555231   PMID:27587396   PMID:27591049   PMID:27600495   PMID:27626679  
PMID:27626687   PMID:27684187   PMID:27705803   PMID:27714564   PMID:27816334   PMID:27909051   PMID:27909724   PMID:27976724   PMID:28026811   PMID:28032559   PMID:28077174   PMID:28130664  
PMID:28144778   PMID:28144995   PMID:28182330   PMID:28278711   PMID:28302793   PMID:28337642   PMID:28347227   PMID:28366632   PMID:28378594   PMID:28415561   PMID:28487364   PMID:28497897  
PMID:28514442   PMID:28515276   PMID:28547731   PMID:28592492   PMID:28608263   PMID:28610841   PMID:28656293   PMID:28656305   PMID:28665748   PMID:28673495   PMID:28844461   PMID:28848138  
PMID:28919577   PMID:28935773   PMID:28964286   PMID:29017331   PMID:29053956   PMID:29062135   PMID:29099815   PMID:29117863   PMID:29128334   PMID:29175119   PMID:29180619   PMID:29209372  
PMID:29232010   PMID:29246940   PMID:29298432   PMID:29298892   PMID:29328466   PMID:29332450   PMID:29359393   PMID:29381233   PMID:29424489   PMID:29467282   PMID:29491746   PMID:29507755  
PMID:29519959   PMID:29550762   PMID:29568951   PMID:29592877   PMID:29615496   PMID:29635040   PMID:29650953   PMID:29695571   PMID:29766408   PMID:29792912   PMID:29859926   PMID:29872149  
PMID:29884807   PMID:29936456   PMID:30056019   PMID:30106436   PMID:30166342   PMID:30166453   PMID:30188755   PMID:30209976   PMID:30279146   PMID:30349055   PMID:30385828   PMID:30396985  
PMID:30455355   PMID:30462309   PMID:30463901   PMID:30471115   PMID:30471916   PMID:30532072   PMID:30559338   PMID:30669930   PMID:30684363   PMID:30690837   PMID:30780033   PMID:30804502  
PMID:30814282   PMID:30833792   PMID:30842409   PMID:30864724   PMID:30915129   PMID:30920655   PMID:30948266   PMID:30997501   PMID:31015163   PMID:31048545   PMID:31073040   PMID:31082616  
PMID:31091453   PMID:31115576   PMID:31131323   PMID:31180492   PMID:31201585   PMID:31212070   PMID:31235096   PMID:31364192   PMID:31391242   PMID:31391542   PMID:31405213   PMID:31536960  
PMID:31586073   PMID:31592001   PMID:31615977   PMID:31630804   PMID:31709831   PMID:31783528   PMID:31845908   PMID:31870551   PMID:31974309   PMID:31980649   PMID:32081587   PMID:32146056  
PMID:32200459   PMID:32231288   PMID:32334520   PMID:32416067   PMID:32417755   PMID:32424522   PMID:32759774   PMID:32786267   PMID:32814053   PMID:32877691   PMID:32926599   PMID:32947824  
PMID:33359129   PMID:33509756  


Genomics

Comparative Map Data
HSPB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl776,302,673 - 76,304,295 (+)EnsemblGRCh38hg38GRCh38
GRCh38776,302,673 - 76,304,292 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37775,931,990 - 75,933,609 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36775,769,859 - 75,771,548 (+)NCBINCBI36hg18NCBI36
Build 34775,576,573 - 75,578,263NCBI
Celera770,800,374 - 70,802,113 (+)NCBI
Cytogenetic Map7q11.23NCBI
HuRef771,018,196 - 71,019,935 (+)NCBIHuRef
CHM1_1775,861,968 - 75,863,707 (+)NCBICHM1_1
CRA_TCAGchr7v2775,264,939 - 75,266,678 (+)NCBI
Hspb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395135,916,773 - 135,918,417 (+)NCBIGRCm39mm39
GRCm39 Ensembl5135,916,773 - 135,918,417 (+)Ensembl
GRCm385135,887,919 - 135,889,563 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5135,887,919 - 135,889,563 (+)EnsemblGRCm38mm10GRCm38
MGSCv375136,363,789 - 136,365,433 (+)NCBIGRCm37mm9NCBIm37
MGSCv365136,172,686 - 136,174,064 (+)NCBImm8
Celera5132,896,482 - 132,898,126 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map575.51NCBI
Hspb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21220,794,014 - 20,795,675 (-)NCBI
Rnor_6.0 Ensembl1223,839,399 - 23,841,049 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01223,839,390 - 23,841,051 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01225,837,102 - 25,838,663 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41221,911,223 - 21,912,784 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11221,898,486 - 21,900,048 (-)NCBI
Celera1222,557,404 - 22,559,067 (-)NCBICelera
Cytogenetic Map12q12NCBI
Hspb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049558447,790 - 10,004 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049558448,094 - 9,565 (+)NCBIChiLan1.0ChiLan1.0
HSPB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1782,751,385 - 82,753,109 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl782,751,523 - 82,752,984 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0767,716,021 - 67,717,762 (-)NCBIMhudiblu_PPA_v0panPan3
HSPB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.167,487,164 - 7,488,576 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl67,487,250 - 7,488,576 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha69,182,749 - 9,184,173 (+)NCBI
ROS_Cfam_1.067,307,626 - 7,309,048 (+)NCBI
UMICH_Zoey_3.167,276,667 - 7,278,079 (+)NCBI
UNSW_CanFamBas_1.067,239,649 - 7,241,061 (+)NCBI
UU_Cfam_GSD_1.067,403,114 - 7,404,545 (+)NCBI
Hspb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344131,924,637 - 131,926,212 (+)NCBI
SpeTri2.0NW_0049365432,110,351 - 2,111,896 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSPB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl310,037,936 - 10,039,915 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1310,038,074 - 10,039,441 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.239,925,991 - 9,927,359 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HSPB1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12810,442,530 - 10,443,804 (+)NCBI
ChlSab1.1 Ensembl2810,442,398 - 10,443,855 (+)Ensembl
Hspb1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474014,940,161 - 14,941,561 (+)NCBI

Position Markers
D7S2204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,126,923 - 78,127,149UniSTSGRCh37
Build 36777,964,859 - 77,965,085RGDNCBI36
Celera772,827,200 - 72,827,426RGD
Cytogenetic Map7q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q36UniSTS
HuRef772,729,053 - 72,729,307UniSTS
CRA_TCAGchr7v2777,458,629 - 77,458,855UniSTS
Marshfield Genetic Map790.95UniSTS
Marshfield Genetic Map790.95RGD
TNG Radiation Hybrid Map733928.0UniSTS
Whitehead-RH Map7418.7UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S2435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37769,065,366 - 69,065,479UniSTSGRCh37
Build 36768,703,302 - 68,703,415RGDNCBI36
Celera762,446,454 - 62,446,567RGD
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q11.22UniSTS
HuRef765,243,708 - 65,243,819UniSTS
CRA_TCAGchr7v2768,404,465 - 68,404,578UniSTS
Marshfield Genetic Map780.42UniSTS
Marshfield Genetic Map780.42RGD
Genethon Genetic Map781.2UniSTS
TNG Radiation Hybrid Map730480.0UniSTS
deCODE Assembly Map781.88UniSTS
Whitehead-YAC Contig Map7 UniSTS
G26375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,933,330 - 75,933,492UniSTSGRCh37
GRCh37974,622,795 - 74,622,957UniSTSGRCh37
Build 36775,771,266 - 75,771,428RGDNCBI36
Celera945,195,502 - 45,195,664UniSTS
Celera770,801,829 - 70,801,991RGD
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map9q21.13UniSTS
HuRef944,445,397 - 44,445,558UniSTS
HuRef771,019,651 - 71,019,813UniSTS
CRA_TCAGchr7v2775,266,394 - 75,266,556UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:996
Count of miRNA genes:465
Interacting mature miRNAs:490
Transcripts:ENST00000248553, ENST00000429938, ENST00000447574
Prediction methods: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.


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 1348 1654 206 69 58 34 2449 1401 179 135 587 339 39 163 1814
Medium 1084 1292 1517 553 1815 430 1905 790 3526 283 857 1266 132 1041 974 2
Low 7 45 3 2 67 1 3 5 29 1 16 8 4 1 4 2
Below cutoff 9 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW273562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP231480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ379985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC231884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L39370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S74571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000248553   ⟹   ENSP00000248553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,304,292 (+)Ensembl
RefSeq Acc Id: ENST00000429938   ⟹   ENSP00000405285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,303,577 - 76,304,295 (+)Ensembl
RefSeq Acc Id: ENST00000447574   ⟹   ENSP00000414357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,688 - 76,304,260 (+)Ensembl
RefSeq Acc Id: ENST00000674547   ⟹   ENSP00000502461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,304,292 (+)Ensembl
RefSeq Acc Id: ENST00000674560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,303,503 (+)Ensembl
RefSeq Acc Id: ENST00000674638   ⟹   ENSP00000502651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,304,292 (+)Ensembl
RefSeq Acc Id: ENST00000674650   ⟹   ENSP00000501628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,699 - 76,304,292 (+)Ensembl
RefSeq Acc Id: ENST00000674965   ⟹   ENSP00000501765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,304,292 (+)Ensembl
RefSeq Acc Id: ENST00000675134   ⟹   ENSP00000501831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,304,292 (+)Ensembl
RefSeq Acc Id: ENST00000675226   ⟹   ENSP00000502510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,304,292 (+)Ensembl
RefSeq Acc Id: ENST00000675417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,303,205 - 76,304,293 (+)Ensembl
RefSeq Acc Id: ENST00000675488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,303,310 (+)Ensembl
RefSeq Acc Id: ENST00000675538   ⟹   ENSP00000502495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,304,292 (+)Ensembl
RefSeq Acc Id: ENST00000675624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,303,445 (+)Ensembl
RefSeq Acc Id: ENST00000675733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,303,792 (+)Ensembl
RefSeq Acc Id: ENST00000675906   ⟹   ENSP00000502714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,304,292 (+)Ensembl
RefSeq Acc Id: ENST00000676195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,303,577 - 76,303,865 (+)Ensembl
RefSeq Acc Id: ENST00000676231   ⟹   ENSP00000502249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,304,292 (+)Ensembl
RefSeq Acc Id: ENST00000676398
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,302,673 - 76,303,257 (+)Ensembl
RefSeq Acc Id: NM_001540   ⟹   NP_001531
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38776,302,673 - 76,304,292 (+)NCBI
GRCh37775,931,875 - 75,933,614 (+)ENTREZGENE
Build 36775,769,859 - 75,771,548 (+)NCBI Archive
HuRef771,018,196 - 71,019,935 (+)ENTREZGENE
CHM1_1775,861,968 - 75,863,707 (+)NCBI
CRA_TCAGchr7v2775,264,939 - 75,266,678 (+)ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001531   ⟸   NM_001540
- UniProtKB: P04792 (UniProtKB/Swiss-Prot),   V9HW43 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000405285   ⟸   ENST00000429938
RefSeq Acc Id: ENSP00000248553   ⟸   ENST00000248553
RefSeq Acc Id: ENSP00000414357   ⟸   ENST00000447574
RefSeq Acc Id: ENSP00000501765   ⟸   ENST00000674965
RefSeq Acc Id: ENSP00000501628   ⟸   ENST00000674650
RefSeq Acc Id: ENSP00000502651   ⟸   ENST00000674638
RefSeq Acc Id: ENSP00000502461   ⟸   ENST00000674547
RefSeq Acc Id: ENSP00000502495   ⟸   ENST00000675538
RefSeq Acc Id: ENSP00000502714   ⟸   ENST00000675906
RefSeq Acc Id: ENSP00000502510   ⟸   ENST00000675226
RefSeq Acc Id: ENSP00000501831   ⟸   ENST00000675134
RefSeq Acc Id: ENSP00000502249   ⟸   ENST00000676231
Protein Domains
sHSP

Promoters
RGD ID:6805784
Promoter ID:HG_KWN:58178
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000252958,   OTTHUMT00000341395,   OTTHUMT00000341396
Position:
Human AssemblyChrPosition (strand)Source
Build 36775,769,691 - 75,770,997 (+)MPROMDB
RGD ID:6850308
Promoter ID:EP17086
Type:single initiation site
Name:HS_HSPB1_1
Description:Heat shock protein 27K
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP17087  
Experiment Methods:Nuclease protection with homologous sequence ladder; Nuclease protection; injected amphibian oocytes; Primer extension with homologous sequence ladder
Regulation:(induced by or strongly expressed in) heatshock
Position:
Human AssemblyChrPosition (strand)Source
Build 36775,769,876 - 75,769,936EPD
RGD ID:6850310
Promoter ID:EP17087
Type:single initiation site
Name:HS_HSPB1_2
Description:Heatshock protein 27K
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP17086  
Experiment Methods:Nuclease protection with homologous sequence ladder; Nuclease protection; injected amphibian oocytes; Primer extension with homologous sequence ladder
Regulation:(induced by or strongly expressed in) heatshock
Position:
Human AssemblyChrPosition (strand)Source
Build 36775,769,926 - 75,769,986EPD
RGD ID:7210861
Promoter ID:EPDNEW_H11176
Type:initiation region
Name:HSPB1_1
Description:heat shock protein family B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11177  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38776,302,673 - 76,302,733EPDNEW
RGD ID:7210863
Promoter ID:EPDNEW_H11177
Type:initiation region
Name:HSPB1_2
Description:heat shock protein family B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11176  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38776,303,703 - 76,303,763EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001540.5(HSPB1):c.165_171dup (p.Leu58fs) duplication Charcot-Marie-Tooth disease axonal type 2F [RCV001213209]|not provided [RCV000522999] Chr7:76302876..76302877 [GRCh38]
Chr7:75932193..75932194 [GRCh37]
Chr7:7q11.23
likely pathogenic|uncertain significance
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789332]|Charcot-Marie-Tooth disease axonal type 2F [RCV000007904]|Distal hereditary motor neuronopathy type 2B [RCV000007905] Chr7:76303841 [GRCh38]
Chr7:75933158 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000007907]|Distal hereditary motor neuronopathy type 2B [RCV000007906]|not provided [RCV000489743] Chr7:76303816 [GRCh38]
Chr7:75933133 [GRCh37]
Chr7:7q11.23
pathogenic
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174177]|Charcot-Marie-Tooth disease axonal type 2F [RCV000809687]|Distal hereditary motor neuronopathy type 2B [RCV000007908] Chr7:76304007 [GRCh38]
Chr7:75933324 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NM_001540.5(HSPB1):c.545C>T (p.Pro182Leu) single nucleotide variant Distal hereditary motor neuronopathy type 2B [RCV000007909] Chr7:76304100 [GRCh38]
Chr7:75933417 [GRCh37]
Chr7:7q11.23
pathogenic
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000007910] Chr7:76303843 [GRCh38]
Chr7:75933160 [GRCh37]
Chr7:7q11.23
pathogenic
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000809907]|Distal hereditary motor neuronopathy type 2B [RCV000007911] Chr7:76304099 [GRCh38]
Chr7:75933416 [GRCh37]
Chr7:7q11.23
pathogenic
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174175]|Charcot-Marie-Tooth disease axonal type 2F [RCV000688660]|Distal hereditary motor neuronopathy type 2B [RCV000007912] Chr7:76303855 [GRCh38]
Chr7:75933172 [GRCh37]
Chr7:7q11.23
pathogenic
NM_001540.5(HSPB1):c.295C>A (p.Leu99Met) single nucleotide variant Distal hereditary motor neuronopathy type 2B [RCV000007913] Chr7:76303007 [GRCh38]
Chr7:75932324 [GRCh37]
Chr7:7q11.23
likely pathogenic
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000551383] Chr7:76304006 [GRCh38]
Chr7:75933323 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.364+6C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001172559]|Charcot-Marie-Tooth disease axonal type 2F [RCV001051779]|Distal hereditary motor neuronopathy type 2B [RCV001162476]|not provided [RCV000727252]|not specified [RCV000518370] Chr7:76303082 [GRCh38]
Chr7:75932399 [GRCh37]
Chr7:7q11.23
likely benign|uncertain significance
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000641082]|Distal hereditary motor neuronopathy type 2B [RCV001162475]|not specified [RCV000517465] Chr7:76303017 [GRCh38]
Chr7:75932334 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000529312] Chr7:76302851 [GRCh38]
Chr7:75932168 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11
pathogenic
GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1 copy number loss See cases [RCV000051302] Chr7:75526437..76499472 [GRCh38]
Chr7:75155767..76128789 [GRCh37]
Chr7:74993703..75966725 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:75567961-76584901)x1 copy number loss See cases [RCV000051303] Chr7:75567961..76584901 [GRCh38]
Chr7:75197265..76214218 [GRCh37]
Chr7:75035201..76052154 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172553]|Charcot-Marie-Tooth disease axonal type 2F [RCV001082894]|Distal hereditary motor neuronopathy type 2B [RCV001159488]|not provided [RCV000711975]|not specified [RCV000173261] Chr7:76302721 [GRCh38]
Chr7:75932038 [GRCh37]
Chr7:7q11.23
benign|likely benign
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1 copy number loss See cases [RCV000054153] Chr7:75496701..78375575 [GRCh38]
Chr7:75126024..78004892 [GRCh37]
Chr7:74963960..77842828 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
NM_001540.3:c.+11C>T single nucleotide variant not provided [RCV000125384] Chr7:7q11.23 benign
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 copy number loss See cases [RCV000133638] Chr7:73352304..76722261 [GRCh38]
Chr7:72766313..76351578 [GRCh37]
Chr7:72404249..76189514 [NCBI36]
Chr7:7q11.23
pathogenic
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000144874]|Charcot-Marie-Tooth disease axonal type 2F [RCV001048111] Chr7:76303817 [GRCh38]
Chr7:75933134 [GRCh37]
Chr7:7q11.23
pathogenic|likely pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.23(chr7:75432651-76418304)x1 copy number loss See cases [RCV000135520] Chr7:75432651..76418304 [GRCh38]
Chr7:75061927..76047621 [GRCh37]
Chr7:74899863..75885557 [NCBI36]
Chr7:7q11.23
likely pathogenic
GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1 copy number loss See cases [RCV000136113] Chr7:75529854..76611483 [GRCh38]
Chr7:75159180..76240800 [GRCh37]
Chr7:74997116..76078736 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1 copy number loss See cases [RCV000136550] Chr7:75568161..76584760 [GRCh38]
Chr7:75197465..76214077 [GRCh37]
Chr7:75035401..76052013 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3 copy number gain See cases [RCV000135929] Chr7:75529854..76626561 [GRCh38]
Chr7:75159180..76255878 [GRCh37]
Chr7:74997116..76093814 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 copy number loss See cases [RCV000142381] Chr7:74377395..82031742 [GRCh38]
Chr7:73992744..81661058 [GRCh37]
Chr7:73429661..81498994 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11
likely pathogenic
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174181]|Charcot-Marie-Tooth disease axonal type 2F [RCV000198307]|Charcot-Marie-Tooth disease axonal type 2F [RCV000765975]|Distal hereditary motor neuronopathy type 2B [RCV001159593] Chr7:76304165 [GRCh38]
Chr7:75933482 [GRCh37]
Chr7:7q11.23
likely pathogenic|benign|uncertain significance
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789060]|Charcot-Marie-Tooth disease axonal type 2F [RCV000201072]|Inborn genetic diseases [RCV000622699]|not provided [RCV000236739] Chr7:76303844 [GRCh38]
Chr7:75933161 [GRCh37]
Chr7:7q11.23
pathogenic|likely pathogenic|uncertain significance
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857186]|Charcot-Marie-Tooth disease axonal type 2F [RCV000201127]|not provided [RCV000236115] Chr7:76304078 [GRCh38]
Chr7:75933395 [GRCh37]
Chr7:7q11.23
pathogenic|likely pathogenic|uncertain significance
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789334]|Charcot-Marie-Tooth disease axonal type 2F [RCV000204495]|not provided [RCV000992169] Chr7:76302962 [GRCh38]
Chr7:75932279 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NM_001540.5(HSPB1):c.99C>T (p.Phe33=) single nucleotide variant not provided [RCV000206252] Chr7:76302811 [GRCh38]
Chr7:75932128 [GRCh37]
Chr7:7q11.23
likely benign
NM_001540.5(HSPB1):c.365-7C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001172558]|Charcot-Marie-Tooth disease axonal type 2F [RCV000543506]|not specified [RCV000610624] Chr7:76303795 [GRCh38]
Chr7:75933112 [GRCh37]
Chr7:7q11.23
likely benign
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172554]|Charcot-Marie-Tooth disease axonal type 2F [RCV000233138] Chr7:76304122 [GRCh38]
Chr7:75933439 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172552]|Charcot-Marie-Tooth disease axonal type 2F [RCV000229157]|Distal hereditary motor neuronopathy type 2B [RCV001160858]|none provided [RCV001282973]|not specified [RCV000252630] Chr7:76302890 [GRCh38]
Chr7:75932207 [GRCh37]
Chr7:7q11.23
benign|likely benign|conflicting interpretations of pathogenicity
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn) indel Charcot-Marie-Tooth disease axonal type 2F [RCV001224694]|not provided [RCV000757373] Chr7:76302960..76302961 [GRCh38]
Chr7:75932277..75932278 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174176]|Charcot-Marie-Tooth disease axonal type 2F [RCV001086814]|not provided [RCV000416180] Chr7:76302792 [GRCh38]
Chr7:75932109 [GRCh37]
Chr7:7q11.23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001540.5(HSPB1):c.574G>T (p.Gly192Trp) single nucleotide variant not provided [RCV000236155] Chr7:76304129 [GRCh38]
Chr7:75933446 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.449C>A (p.Pro150His) single nucleotide variant not provided [RCV000236589] Chr7:76304004 [GRCh38]
Chr7:75933321 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser) single nucleotide variant not specified [RCV000516199] Chr7:76302854 [GRCh38]
Chr7:75932171 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789962]|Charcot-Marie-Tooth disease axonal type 2F [RCV000820858]|not provided [RCV000516728] Chr7:76304094 [GRCh38]
Chr7:75933411 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NM_001540.5(HSPB1):c.84C>T (p.Leu28=) single nucleotide variant not specified [RCV000606543] Chr7:76302796 [GRCh38]
Chr7:75932113 [GRCh37]
Chr7:7q11.23
likely benign
NM_001540.5(HSPB1):c.-19C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172551]|Charcot-Marie-Tooth disease axonal type 2F [RCV000321758]|Distal hereditary motor neuronopathy type 2B [RCV000290102]|not provided [RCV000767329]|not specified [RCV000247670] Chr7:76302694 [GRCh38]
Chr7:75932011 [GRCh37]
Chr7:7q11.23
benign|likely benign|uncertain significance|not provided
NM_001540.5(HSPB1):c.*11C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172564]|Charcot-Marie-Tooth disease axonal type 2F [RCV000407612]|Distal hereditary motor neuronopathy type 2B [RCV000352277]|none provided [RCV001282520]|not specified [RCV000243098] Chr7:76304184 [GRCh38]
Chr7:75933501 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000462925]|Distal hereditary motor neuronopathy type 2B [RCV000400687]|not specified [RCV000243424] Chr7:76302736 [GRCh38]
Chr7:75932053 [GRCh37]
Chr7:7q11.23
benign|likely benign|uncertain significance
NM_001540.4(HSPB1):c.-122G>T single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000369349]|Distal hereditary motor neuronopathy type 2B [RCV000269982] Chr7:76302591 [GRCh38]
Chr7:75931908 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.-4C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001174179]|Charcot-Marie-Tooth disease axonal type 2F [RCV000376443]|Distal hereditary motor neuronopathy type 2B [RCV000286983]|not provided [RCV000767311] Chr7:76302709 [GRCh38]
Chr7:75932026 [GRCh37]
Chr7:7q11.23
benign|likely benign|uncertain significance|not provided
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172549]|Charcot-Marie-Tooth disease axonal type 2F [RCV000705379]|Distal hereditary motor neuronopathy type 2B [RCV000678497] Chr7:76303820 [GRCh38]
Chr7:75933137 [GRCh37]
Chr7:7q11.23
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001540.4(HSPB1):c.-46C>T single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000384379]|Distal hereditary motor neuronopathy type 2B [RCV000325183] Chr7:76302667 [GRCh38]
Chr7:75931984 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000338392]|Distal hereditary motor neuronopathy type 2B [RCV000278632] Chr7:76302928 [GRCh38]
Chr7:75932245 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.4(HSPB1):c.-129G>T single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000273347]|Distal hereditary motor neuronopathy type 2B [RCV000333161] Chr7:76302584 [GRCh38]
Chr7:75931901 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.417G>A (p.Thr139=) single nucleotide variant not provided [RCV000402853] Chr7:76303854 [GRCh38]
Chr7:75933171 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.255C>T (p.Val85=) single nucleotide variant not provided [RCV000487926] Chr7:76302967 [GRCh38]
Chr7:75932284 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.*100_*103del deletion Charcot-Marie-Tooth disease, type 2 [RCV000307724]|Distal hereditary motor neuronopathy [RCV000362440] Chr7:76304270..76304273 [GRCh38]
Chr7:75933587..75933590 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000549905] Chr7:76304109 [GRCh38]
Chr7:75933426 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.365-6C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001172547]|Charcot-Marie-Tooth disease axonal type 2F [RCV000641081]|Charcot-Marie-Tooth disease type 4 [RCV000857185]|Distal hereditary motor neuronopathy type 2B [RCV001164521] Chr7:76303796 [GRCh38]
Chr7:75933113 [GRCh37]
Chr7:7q11.23
benign|likely benign|uncertain significance
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789058]|Charcot-Marie-Tooth disease axonal type 2F [RCV000641079]|Distal hereditary motor neuronopathy type 2B [RCV001197515] Chr7:76302828 [GRCh38]
Chr7:75932145 [GRCh37]
Chr7:7q11.23
pathogenic|likely pathogenic|uncertain significance
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) deletion Charcot-Marie-Tooth disease [RCV000857187]|Charcot-Marie-Tooth disease axonal type 2F [RCV000795282]|not provided [RCV000599025] Chr7:76304127..76304139 [GRCh38]
Chr7:75933444..75933456 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000530085] Chr7:76302969 [GRCh38]
Chr7:75932286 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.394G>A (p.Gly132Ser) single nucleotide variant not specified [RCV000518472] Chr7:76303831 [GRCh38]
Chr7:75933148 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000641080] Chr7:76303817 [GRCh38]
Chr7:75933134 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000535288] Chr7:76304087 [GRCh38]
Chr7:75933404 [GRCh37]
Chr7:7q11.23
likely pathogenic
NM_001540.5(HSPB1):c.373_375GAG[1] (p.Glu126del) microsatellite Charcot-Marie-Tooth disease axonal type 2F [RCV000536499]|not provided [RCV001027500] Chr7:76303810..76303812 [GRCh38]
Chr7:75933127..75933129 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:75058408-77082896)x1 copy number loss See cases [RCV000449141] Chr7:75058408..77082896 [GRCh37]
Chr7:7q11.23
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV000470231]|not specified [RCV000438162] Chr7:76303030 [GRCh38]
Chr7:75932347 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2F [RCV001087126]|not provided [RCV000711973]|not specified [RCV000438163] Chr7:76302952 [GRCh38]
Chr7:75932269 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172563]|Charcot-Marie-Tooth disease axonal type 2F [RCV000475381]|not specified [RCV000439558] Chr7:76304128 [GRCh38]
Chr7:75933445 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_001540.5(HSPB1):c.-15G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001172545]|not specified [RCV000426106<