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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: HSPB1 (NCBI Gene ID:3315)

Gene Summary

Gene Summary

Gene Information	Gene Name: HSPB1
	Gene ID: 3315
	Gene Symbol	HSPB1
	Gene ID	3315
	Gene Name	heat shock protein family B (small) member 1
	Synonyms	CMT2F\|HEL-S-102\|HMN2B\|HS.76067\|HSP27\|HSP28\|Hsp25\|SRP27
	Cytomap	7q11.23
	Type of Gene	protein-coding
	Description	heat shock protein beta-128 kDa heat shock proteinepididymis secretory protein Li 102estrogen-regulated 24 kDa proteinheat shock 27 kDa proteinheat shock 27kD protein 1heat shock 27kDa protein 1stress-responsive protein 27
	Modification date	20200327
	UniProtAcc	P04792

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0006417	Regulation of translation
GO:0006413	Translational initiation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

Inferred gene age of translation factor.

Gene

Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25

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Translation Studies in PubMed

We searched PubMed using 'HSPB1[title] AND translation [title] AND human.'

Gene	Title	PMID
HSPB1	Unphosphorylated HSP27 (HSPB1) regulates the translation initiation process via a direct association with eIF4E in osteoblasts	26151374

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

ORF

Exon skipping position in the amino acid sequence.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

Len(transcript seq)

Exon skip start (mRNA)

Exon Skip end (mRNA)

Len(amino acid seq)

Exon skip start (AA)

Exon Skip end (AA)

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc

Exon skip start (AA)

Exon Skip end (AA)

Function feature start (AA)

Function feature end (AA)

Functional feature type

Functional feature desc.

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
LUAD	HSPB1	-1.80049998348782	0.000895454784300369
STAD	HSPB1	-1.72443393773291	0.00828406633809209
BRCA	HSPB1	-1.44980343105922	4.97528468246305e-10
KIRC	HSPB1	-1.63515589515678	7.52485613123653e-05

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type

Gene

miRNA

TargetScan binding score (Context++ score percentile)

Coefficient

Pvalue

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type	Gene	methyl group b	methyl group a	DEG pval	avg methyl in b	avg methyl in a	avg exp in b	avg exp in a
LAML	HSPB1	2	1	0.000511410393610029	0.245533984375	0.147074438202247	-0.730365607199	-0.35185893585076

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
READ	HSPB1	-0.058616296	0.014906767

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with HSPB1 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
DLBC	Cell metabolism gene	HSPB1	GPX4	0.845154949	4.21E-14
ESCA	TF	HSPB1	BNC1	0.813558408	1.47E-47
ESCA	TF	HSPB1	SOX15	0.829443492	5.94E-51
ESCA	TSG	HSPB1	S100A2	0.800684977	4.85E-45
ESCA	TSG	HSPB1	DSC3	0.804929013	7.51E-46
ESCA	TSG	HSPB1	SOX15	0.829443492	5.94E-51
KICH	Cell metabolism gene	HSPB1	RNPS1	0.81129243	1.85E-22
KICH	Cell metabolism gene	HSPB1	APRT	0.816244877	6.36E-23
KIRP	Epifactor	HSPB1	PPP4C	0.806510251	2.97E-75
THCA	Cell metabolism gene	HSPB1	DPM3	0.806933179	1.87E-132
THCA	Epifactor	HSPB1	ZNHIT1	0.813098426	4.71E-136
THCA	TSG	HSPB1	GADD45GIP1	0.811474924	4.30E-135
THYM	Cell metabolism gene	HSPB1	DPM3	0.802475211	1.11E-28
THYM	Cell metabolism gene	HSPB1	PMVK	0.818363658	1.20E-30
THYM	Cell metabolism gene	HSPB1	PHPT1	0.830579049	2.72E-32
THYM	IUPHAR	HSPB1	PMVK	0.818363658	1.20E-30
THYM	Kinase	HSPB1	FASTK	0.824206174	2.03E-31
UCS	Cell metabolism gene	HSPB1	DPM3	0.802475211	1.11E-28
UCS	Cell metabolism gene	HSPB1	PMVK	0.818363658	1.20E-30
UCS	Cell metabolism gene	HSPB1	PHPT1	0.830579049	2.72E-32
UCS	IUPHAR	HSPB1	PMVK	0.818363658	1.20E-30
UCS	Kinase	HSPB1	FASTK	0.824206174	2.03E-31
UVM	Cell metabolism gene	HSPB1	PCYT2	0.81231302	5.98E-20
UVM	Cell metabolism gene	HSPB1	ALG3	0.818331418	1.90E-20
UVM	Cell metabolism gene	HSPB1	AGPAT2	0.831724321	1.25E-21
UVM	Cell metabolism gene	HSPB1	SLC25A1	0.855278028	5.61E-24
UVM	CGC	HSPB1	ASPSCR1	0.813335271	4.94E-20
UVM	Epifactor	HSPB1	TAF6	0.804174649	2.65E-19
UVM	Epifactor	HSPB1	PELP1	0.806240162	1.83E-19
UVM	IUPHAR	HSPB1	NR1H2	0.814353892	4.07E-20
UVM	IUPHAR	HSPB1	PAK4	0.828119707	2.67E-21
UVM	IUPHAR	HSPB1	SLC25A1	0.855278028	5.61E-24
UVM	Kinase	HSPB1	PAK4	0.828119707	2.67E-21
UVM	TF	HSPB1	ZNF787	0.800941568	4.71E-19
UVM	TF	HSPB1	ZNF574	0.804253611	2.62E-19
UVM	TF	HSPB1	NR1H2	0.814353892	4.07E-20

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
LUAD	HSPB1	MAPKAPK5	-1.9009198752409	0.000358042351864552
LIHC	HSPB1	HSP90AA1	-1.87137739671902	0.0003817245773207
LIHC	HSPB1	MAPKAPK3	-1.06381857357754	0.000474973953797755
THCA	HSPB1	HSPA8	1.74442991621721	0.000933668369638431
COAD	HSPB1	MAPKAPK2	-1.81020927366109	0.00266072154045105
KIRP	HSPB1	MAPKAPK5	-2.09446515689452	0.00779616041108966
UCEC	HSPB1	MAPKAPK3	-2.64240951217896	0.015625
PRAD	HSPB1	MAPKAPK5	-2.0610304486992	0.0160054188673
BLCA	HSPB1	DAXX	-5.90765467284785	0.0180816650390625
LUAD	HSPB1	AKT1	-4.53714460696341	0.0301695351050489
UCEC	HSPB1	CYCS	-2.81266000225107	0.03125
ESCA	HSPB1	HSP90AA1	-2.95407832928575	0.0322265625
BRCA	HSPB1	MAPK14	-1.6928131480761	1.08867679255958e-06
BRCA	HSPB1	HSP90AA1	2.1978220577015	1.13731762084626e-08
LUAD	HSPB1	DAXX	-1.73426772264581	1.73122747932354e-05
KIRC	HSPB1	DAXX	-1.30425755307071	1.74852761066225e-11
LIHC	HSPB1	MAPKAPK5	-1.54381786522309	1.89937725360959e-05
PRAD	HSPB1	MAPK14	1.20273850965986	2.06740855708439e-05
KICH	HSPB1	CYCS	1.56563374350741	2.98023223876953e-07
THCA	HSPB1	CYCS	1.97748704739574	3.03520282946109e-06
STAD	HSPB1	HSP90AA1	-1.65705125430285	3.51201742887497e-06
LIHC	HSPB1	DAXX	-3.06066083523694	3.54734318257859e-08
STAD	HSPB1	DAXX	-2.04388478486679	3.94955277442932e-05
BRCA	HSPB1	CYCS	-1.49929042625543	4.88583064086618e-16
LUAD	HSPB1	CYCS	-6.2492698502496	5.91982739853218e-07
KICH	HSPB1	MAPKAPK3	1.14339516655778	5.96046447753906e-08

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with HSPB1

HSPB8, MAGED1, ILK, IGSF21, PPA1, MED31, RBM48, LRIF1, TP53, AKT1, MAPKAPK2, CRYAB, CYCS, MAPKAPK5, CRYAA, CRYBB2, HNRNPD, TGFB1I1, USP38, USP1, DMWD, SRRM2, PRKD1, UBC, MYC, G6PD, GATA1, UCHL5, YWHAQ, MME, UBE2I, HSF1, EBNA-LP, TNF, UNG, STAT2, HDAC6, CASP3, PRKCD, SNCA, CUL3, COPS5, lwr, ISG15, CRYGC, PHLDA1, SMN1, DAXX, SMURF2, PNPT1, PUM1, PALLD, NRD1, PEX19, CRK, TPM3, RNF114, CFTR, CHUK, IKBKB, VCP, FN1, VCAM1, SF3B3, EFTUD2, PRPF19, MFAP1, HSPB1, WDR83, ATF2, IQCB1, NOS2, UBL4A, ITGA4, CS, INS, SGA1, MAPKAPK3, PLG, NPM1, SOX2, LBP, PPM1A, SMARCD1, SERTAD1, ESR1, RPA1, RPA2, RPA3, WWOX, ASB4, ASB6, ASB10, ASB17, ZBTB1, MAP3K7, AARSD1, BAG3, LCE3A, IRS4, HAUS1, CEP57, HUWE1, PCSK9, EZH2, AATK, ARAF, BUB1B, IRAK1, LIMK2, SIK2, SRMS, TYK2, BTRC, HSPB6, HNRNPA1, ACBD6, ACTN1, ACTN4, ADCY9, ADPRHL2, AGAP5, AGAP4, ALPI, ANK1, ANXA1, SLC7A9, C11orf98, C15orf57, UQCC2, C6orf211, CALR, CCHCR1, CDC123, CDK5RAP3, CENPK, CEP78, AGAP7P, DFFA, EIF1AX, EIF2S1, EIF4A2, EPB41L1, FTH1, GARS, HAUS8, HECTD1, HNRNPH2, HSP90AA1, KCMF1, KCTD3, KIAA0368, KPNA3, KRT18, LSM3, MCM6, MYL12A, MRPS23, MSL1, MTIF2, NAP1L1, NEXN, NSMCE4A, NVL, PELO, PSMA3, PSMA6, PSMB2, PSMD1, PTGES3, PTPRA, RASSF9, RBM25, RBX1, RPAP3, RYBP, S100A4, SAT1, SF3A3, SNRNP200, SNRPF, SQSTM1, STUB1, TARBP2, TARS, TOMM70A, TOX4, TPT1, UFD1L, UQCRB, WWP1, XPO1, XRCC5, YWHAB, ZBTB17, ZNF197, EIF3M, EIF5, EIF4G3, FLNB, FKBP4, GSTO1, MRPL40, OBSL1, PGM2, PAF1, RAD23A, RBPJ, TJP2, THOC5, ACTN2, ADRBK2, AGAP3, AMD1, ANAPC7, ANKRD7, AP2B1, ARHGAP28, ARHGEF7, ARIH1, ARRDC5, BVES, C12orf10, SPACA7, ERICH6, CAMK1, CBX1, CCDC53, CCDC64, CCDC70, CCNC, CETN3, CLCN3, CPSF3, CRNKL1, DES, DMAP1, EHD1, ENPP2, EPB41L3, ERCC5, FAM71D, C2orf73, FXR1, GAPVD1, GLMN, GNPAT, GUCA1A, HNRNPA2B1, HNRNPU, HSPA4, IARS2, INPP5K, ISG20L2, KANSL1, KLC1, KRT72, LONRF1, LUZP1, MRPL28, MYL9, MYLK, NBAS, NAPA, NCKIPSD, NEK10, NFU1, OPTN, OSBPL9, PALM3, PHYHIPL, PPP2R3C, PRPF40A, PTPN3, RAB41, RALA, RPSA, RSPH3, SBF1, SEC13, PNISR, SMARCA2, SPATA7, SPIN1, SPTBN1, SRP72, SUPT5H, SYCE1, TBC1D1, TBC1D3B, TMCO3, TRIM24, TRIM54, TSNAXIP1, TTC3, TTC39C, TXNL1, WDR66, YWHAE, ZBTB37, ZFAT, ZNRF3, ACAP2, RBM39, ADD3, ATXN10, KNSTRN, MRGBP, CCNDBP1, CCNO, DNAJC21, EIF4G2, EPB41L2, GDI2, GOLGA8A, GRIPAP1, GTSF1, HDLBP, HNRNPF, HSP90AB1, HSPA5, IGBP1, LIG1, MPHOSPH6, MYL12B, PSMC1, SMARCA4, SNW1, VIM, YWHAH, YWHAZ, ZNF131, TCPT, AHCY, AHNAK, ARHGDIA, ATIC, CARHSP1, CDK1, CSRP1, DUT, EEF1A1, EEF1B2, GLO1, GLOD4, GMPS, GRPEL1, HMGN5, HN1, HN1L, HNRNPH1, HSPA8, HSPA9, EEF1D, EIF4B, ERP29, HNRNPH3, LASP1, NAMPT, OXCT1, PAICS, PKM, PTBP1, SARS, SDHA, SEPHS1, USP14, IPO7, ITPA, MSN, OLA1, PDLIM1, PFDN2, PITPNA, PITPNB, PRDX6, PSAT1, STIP1, STMN1, TARDBP, TES, TKT, TUBA4A, UAP1, UBA2, UBE2N, UGDH, ZYX, NTRK1, STRN, TUBA1C, ARMC6, Bmpr1a, Kctd5, MCM2, CDC5L, EGFR, CTGLF10P, CDC73, PHF12, HYPK, DUSP16, PTPN22, CYLD, DLST, PDHA1, EDEM3, TRIM25, CCND2, BRCA1, YAP1, MAPK14, E2F6, PCGF5, TRIM14, RIPK4, MAPK6, ADSS, ARNT, BCL2L1, CTNNB1, HDAC4, JUP, MAP2K1, MTCH2, POLD1, TGFB1, BRAF, CCNT1, KRAS, PRPF8, AAR2, PIH1D1, RNF4, PRKCZ, MDH2, CSNK2A1, CSNK2A2, PPT1, MB21D1, CDK9, KRT17, KIAA1429, AMBRA1, RC3H1, RC3H2, LRRK2, NR2C2, MECOM, AGRN, ATXN3, MPO, ALB, ELANE, HIST1H4A, CREBBP, LUCAT1, RARA, SCARB2, ABCD3, HAX1, CLU, TFRC, NNT, LETM1, PDE3A, CYC1, NUP93, BAG2, RUVBL2, RUVBL1, MCM7, HADHA, GCN1L1, AKAP8, PANK4, RCN2, TUBA1B, SLC25A13, PRKDC, XPOT, MSH6, MCCC1, ATP2A2, SEC16A, AIFM1, MAP1B, AKAP8L, MCCC2, TOMM40, STT3A, TIMM21, ERLIN2, PHB, PHB2, SLC25A6, GLUD1, SLC25A5, ATP5A1, CHCHD3, DNAJC11, ERLIN1, EMD, LBR, IMMT, ACADM, GEMIN4, SFXN3, KIAA1217, SLC25A12, MLF2, SLC25A3, UQCRC2, SLC25A1, PC, SUCLG2, YME1L1, PTPN1, GFPT1, MAPT, FUS, TAF15, MATR3, CLUAP1, BIRC3, LMBR1L, WWP2, ATXN1, HTT, PSEN1, PLEKHA4, FANCD2, NGB, HCVgp1, SP1, ETS1, STAT3, ZC3H18, ABI1, BAD, BLK, CAMK2A, CASP9, CAV1, CAV2, CDC42, CSK, DOK2, DUSP1, DUSP4, DUSP6, ELK1, ELK4, FGR, GAB2, GRB10, GRB2, HCK, HDAC1, LCK, MAP2K3, MAP2K5, MAPK7, MYLK2, PAK1, PEBP1, PRKAR1A, PRKCA, PRKCB, PRKCE, PRKCG, PRKCI, PTK6, PTPN12, PXN, RAB5A, RAC1, RAF1, RASA1, RHOA, RIPK1, RPS6KA3, SH2D3C, SH3BGRL, SH3GL3, SH3KBP1, SHC1, SHOC2, SOCS1, VAV1, NME1, APPL1, CIT, ANLN, AURKB, CHMP4B, ECT2, KIF14, KIF20A, KIF23, PRC1, TRIM55, TRIM63, SUMO2, BRD4, ASXL1, JADE1, LGALS7, AR, DDX39B, TRIM37, SLC26A4-AS1, NFKBIA, ABCG2, FZR1, FXR2, HSPB2, NPAS1, METTL21B, SPRTN, BTF3, F13A1, CCNF, MAP1LC3B,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
HSPB1	chr7	75931676	C	T	single_nucleotide_variant	Likely_benign	not_provided
HSPB1	chr7	75931729	G	C	single_nucleotide_variant	Likely_benign	not_provided
HSPB1	chr7	75931901	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B
HSPB1	chr7	75931908	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B
HSPB1	chr7	75931974	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|not_provided
HSPB1	chr7	75931984	C	T	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|not_provided
HSPB1	chr7	75932011	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease\|not_specified\|not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
HSPB1	chr7	75932015	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease\|not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
HSPB1	chr7	75932025	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
HSPB1	chr7	75932026	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
HSPB1	chr7	75932030	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
HSPB1	chr7	75932032	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
HSPB1	chr7	75932036	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932038	G	A	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932045	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932046	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932048	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932049	C	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932049	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932050	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932053	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932056	G	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932058	T	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932065	G	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932066	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932068	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932074	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932076	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001587\|nonsense	SO:0001587\|nonsense
HSPB1	chr7	75932081	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932081	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932089	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932099	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932100	C	CGCATAGCCGCCTCTTCGACCAG	Duplication	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001587\|nonsense,SO:0001821\|inframe_insertion	SO:0001587\|nonsense,SO:0001821\|inframe_insertion
HSPB1	chr7	75932109	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932109	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932113	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932118	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932128	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932129	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932137	C	G	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932139	G	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932145	C	T	single_nucleotide_variant	Pathogenic	HSPB1-related_axonal_neuropathies\|Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932146	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932150	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932150	G	GAGTGGTCGC	Duplication	Uncertain_significance	not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
HSPB1	chr7	75932155	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HSPB1	chr7	75932156	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932158	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932163	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001587\|nonsense	SO:0001587\|nonsense
HSPB1	chr7	75932167	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932168	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932171	G	A	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932178	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932182	G	A	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease	SO:0001587\|nonsense	SO:0001587\|nonsense
HSPB1	chr7	75932187	G	A	single_nucleotide_variant	Likely_pathogenic	Distal_hereditary_motor_neuronopathy_type_2B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932193	T	TGCGCCCC	Duplication	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75932196	GC	G	Deletion	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease,_dominant_intermediate_C	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75932197	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932198	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932200	C	CGCGCCCT	Insertion	Pathogenic	Charcot-Marie-Tooth_disease	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75932200	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932203	G	GC	Duplication	Pathogenic/Likely_pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75932204	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932207	C	CCCG	Microsatellite	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
HSPB1	chr7	75932207	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease\|not_specified\|none_provided\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932213	G	A	single_nucleotide_variant	Uncertain_significance	HSPB1-Related_Disorder\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932213	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932219	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932221	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932227	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932231	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932233	G	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932239	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932245	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932254	C	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932258	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932262	GC	TT	Indel	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932264	C	T	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932265	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932265	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932269	A	G	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932272	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932277	GC	AT	Indel	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932279	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	HSPB1-Related_Disorders\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932279	G	C	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932279	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932280	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932282	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932284	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932286	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932293	C	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932295	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932306	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932309	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932310	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932315	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932315	CG	C	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75932323	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932324	C	A	single_nucleotide_variant	Likely_pathogenic	Distal_hereditary_motor_neuronopathy_type_2B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932334	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932334	A	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932347	G	C	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932356	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932360	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932362	C	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932368	C	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932369	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932378	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932380	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75932385	A	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932393	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75932399	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75932400	CCCCCTGCTCCTG	C	Deletion	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75932403	C	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75932403	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75932427	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75932475	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75932701	C	CA	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75932861	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75932862	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75932930	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933052	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_4	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933059	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933106	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933108	T	TC	Duplication	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933108	TC	T	Deletion	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933109	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933112	C	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933112	C	T	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933113	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933113	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease_type_4	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933114	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933115	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933122	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933123	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933126	C	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933126	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933126	CGAG	C	Microsatellite	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HSPB1	chr7	75933133	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933133	C	T	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933134	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933134	G	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933137	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933146	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933148	G	A	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933149	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933152	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933153	C	T	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933154	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933157	T	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933158	C	A	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933158	C	G	single_nucleotide_variant	Likely_pathogenic	Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933158	C	T	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933160	C	T	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933161	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933161	G	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933165	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933169	A	G	single_nucleotide_variant	Likely_pathogenic	Distal_hereditary_motor_neuronopathy_type_2B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933170	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933171	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933172	C	G	single_nucleotide_variant	Pathogenic	HSPB1-related_axonal_neuropathies\|Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933175	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933179	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933182	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933187	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933191	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933195	G	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933226	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933242	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933294	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HSPB1	chr7	75933304	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933304	G	GC	Duplication	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75933309	C	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933310	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933321	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933323	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933324	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933332	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933341	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933347	CCT	C	Deletion	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75933362	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933368	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933370	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933373	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933376	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933376	CA	C	Deletion	Pathogenic	Charcot-Marie-Tooth_disease	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75933379	GC	G	Deletion	Pathogenic/Likely_pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75933380	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933382	CA	C	Deletion	Pathogenic/Likely_pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_specified	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75933394	GC	CT	Indel	Likely_pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001587\|nonsense	SO:0001587\|nonsense
HSPB1	chr7	75933395	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HSPB1	chr7	75933404	G	T	single_nucleotide_variant	Likely_pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001587\|nonsense	SO:0001587\|nonsense
HSPB1	chr7	75933410	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933411	C	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933411	C	T	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933416	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933416	C	G	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933416	C	T	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933417	C	T	single_nucleotide_variant	Pathogenic	Distal_hereditary_motor_neuronopathy_type_2B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933423	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933424	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933426	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933427	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933432	C	T	single_nucleotide_variant	Pathogenic	Distal_hereditary_motor_neuronopathy_type_2B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933434	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933437	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933439	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933442	G	C	single_nucleotide_variant	Likely_pathogenic	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933443	CTTGGGGGCCCAGA	C	Deletion	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75933445	T	C	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Charcot-Marie-Tooth_disease\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933446	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933470	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933478	TGCC	T	Microsatellite	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HSPB1	chr7	75933479	G	GC	Duplication	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HSPB1	chr7	75933482	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933482	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933487	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HSPB1	chr7	75933487	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HSPB1	chr7	75933501	C	T	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B\|Charcot-Marie-Tooth_disease\|not_specified\|none_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
HSPB1	chr7	75933510	A	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
HSPB1	chr7	75933512	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
HSPB1	chr7	75933576	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
HSPB1	chr7	75933586	CAAAT	C	Deletion	Uncertain_significance	Distal_hereditary_motor_neuronopathy\|Charcot-Marie-Tooth_disease,_type_2	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
HSPB1	chr7	75933606	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_axonal_type_2F\|Distal_hereditary_motor_neuronopathy_type_2B	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
HSPB1	chr7	75933712	T	G	single_nucleotide_variant	Benign	not_provided
HSPB1	chr7	75933718	C	T	single_nucleotide_variant	Likely_benign	not_provided
HSPB1	chr7	75933750	C	T	single_nucleotide_variant	Likely_benign	not_provided
HSPB1	chr7	75933766	G	C	single_nucleotide_variant	Likely_benign	not_provided

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
HSPB1	UCS	chr7	75933345	75933345	C	T	Missense_Mutation	p.S158F	3
HSPB1	LIHC	chr7	75933446	75933446	G	-	Frame_Shift_Del	p.G193fs	2
HSPB1	PRAD	chr7	75933153	75933153	C	T	Silent	p.Y133Y	2
HSPB1	CESC	chr7	75933350	75933350	G	A	Missense_Mutation		2
HSPB1	CESC	chr7	75933361	75933361	G	A	Silent		2
HSPB1	UCS	chr7	75933345	75933345	C	T	Missense_Mutation		1
HSPB1	LUAD	chr7	75933446	75933446	G	T	Missense_Mutation	p.G192W	1
HSPB1	LUSC	chr7	75933484	75933484	C	T	Silent	p.A204A	1
HSPB1	MESO	chr7	75932132	75932132	C	A	Missense_Mutation		1
HSPB1	BLCA	chr7	75933142	75933142	G	A	Missense_Mutation		1
HSPB1	OV	chr7	75769994	75769994	T	A	Missense_Mutation	p.L10H	1
HSPB1	BLCA	chr7	75933142	75933142	G	A	Missense_Mutation	p.E130K	1
HSPB1	SKCM	chr7	75933416	75933416	C	T	Missense_Mutation	p.P182S	1
HSPB1	SKCM	chr7	75933408	75933408	T	A	Missense_Mutation	p.I179N	1
HSPB1	COAD	chr7	75932270	75932270	C	A	Missense_Mutation	p.L81I	1
HSPB1	STAD	chr7	75933304	75933305	-	C	Frame_Shift_Ins	p.L144fs	1
HSPB1	ESCA	chr7	75932326	75932326	G	T	Silent		1
HSPB1	STAD	chr7	75932122	75932122	G	A	Silent	p.Q31Q	1
HSPB1	LIHC	chr7	75932030	75932030	A	G	Missense_Mutation	p.M1V	1
HSPB1	THYM	chr7	75932324	75932324	C	T	Silent		1

Copy number variation (CNV) of HSPB1
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Fusion gene breakpoints (product of the structural variants (SVs)) across HSPB1
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Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
92763	OV	TCGA-24-1428	ALDOA	chr16	30080299	+	HSPB1	chr7	75933118	+
92763	SKCM	TCGA-EE-A3AG-06A	GAPDH	chr12	6647481	-	HSPB1	chr7	75931861	+
92763	N/A	R77849	GJC1	chr17	42878774	-	HSPB1	chr7	75933535	+
92763	HNSC	TCGA-CV-7415-01A	GTF2IRD1	chr7	73868506	+	HSPB1	chr7	75933119	+
75272	PRAD	TCGA-XA-A8JR-01A	HSPB1	chr7	75933612	-	CAMKK2	chr12	121682418	-
82922	CESC	TCGA-DS-A1OB-01A	HSPB1	chr7	75933609	-	CLDN7	chr17	7166264	-
101128	N/A	AI123558	HSPB1	chr7	75933544	-	DDX17	chr22	38884189	+
102756	CESC	TCGA-EK-A2RC-01A	HSPB1	chr7	75933612	-	DDX27	chr20	47849303	+
89353	BRCA	TCGA-GI-A2C9-11A	HSPB1	chr7	75933420	+	EGR1	chr5	137802972	+
89353	N/A	AA903814	HSPB1	chr7	75933533	-	EGR1	chr5	137802528	-
92763	N/A	AI609727	HSPB1	chr7	75932066	-	HSPB1	chr7	75933375	-
93492	HNSC	TCGA-CR-7372	HSPB1	chr7	75933413	+	KRT14	chr17	39743146	-
99572	HNSC	TCGA-CQ-7067	HSPB1	chr7	75933512	+	KRT17	chr17	39776808	-
99274	CESC	TCGA-JX-A3Q0-01A	HSPB1	chr7	75933392	-	KRT19	chr17	39681232	-
99274	N/A	CA336509	HSPB1	chr7	75933068	+	KRT19	chr17	39679981	-
62681	HNSC	TCGA-CV-6960-01A	HSPB1	chr7	75933609	-	MYO1B	chr2	192275792	+
98367	N/A	BF341225	HSPB1	chr7	75933611	+	NT5C2	chr10	104923468	+
91872	N/A	DA537518	HSPB1	chr7	75932092	+	OBSL1	chr2	220435250	-
99213	CESC	TCGA-EK-A2PM-01A	HSPB1	chr7	75933612	-	PLAT	chr8	42051245	-
98619	Non-Cancer	ERR315411	HSPB1	chr7	75933507	+	PPP1R13B	chr14	104208451	-
71417	N/A	BU737515	HSPB1	chr7	75933537	-	PTRH1	chr9	130454428	-
98240	N/A	DA283619	HSPB1	chr7	75932104	+	RAPGEF5	chr7	22159963	-
95801	LUSC	TCGA-98-A53I-01A	HSPB1	chr7	75933612	-	SF3B2	chr11	65836145	+
98143	CESC	TCGA-VS-A958-01A	HSPB1	chr7	75933612	-	STAT6	chr12	57496773	-
89867	N/A	AA551982	HSPB1	chr7	75933609	+	STRBP	chr9	125950037	+
99016	HNSC	TCGA-HD-7753-01A	HSPB1	chr7	75933612	-	THSD4	chr15	72072881	+
95227	HNSC	TCGA-HD-8224-01A	HSPB1	chr7	75933609	-	TTN	chr2	179537430	-
102742	KICH	TCGA-KM-8442-01A	HSPB1	chr7	75933612	-	TYK2	chr19	10491352	-
67248	N/A	CD387519	HSPB1	chr7	75932194	+	UBE2M	chr19	59069801	-
97040	N/A	BU631277	HSPB1	chr7	75933535	-	WASF1	chr6	110423249	+
92763	HNSC	TCGA-DQ-5624	KRT17	chr17	39780636	-	HSPB1	chr7	75933401	+
92763	HNSC	TCGA-CV-A6K1	KRT6A	chr12	52843253	-	HSPB1	chr7	75933124	+
92763	HNSC	TCGA-CV-A6K1	KRT6A	chr12	52864916	-	HSPB1	chr7	75933124	+
92763	HNSC	TCGA-CQ-A4C6	KRT6C	chr12	52864916	-	HSPB1	chr7	75933124	+
92763	N/A	N36356	RMRP	chr9	35657753	-	HSPB1	chr7	75932236	+
92763	N/A	AJ710478	SKP1	chr5	133496716	-	HSPB1	chr7	75932016	+
92765	N/A	DA893722	TNNC2	chr20	44453224	-	HSPB1	chr7	75932242	+

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
ACC	HSPB1	0.00129620781447233	0.036
BRCA	HSPB1	0.0119997567599435	0.32
KIRP	HSPB1	0.0195812366980448	0.51
LIHC	HSPB1	0.0221090694343793	0.55
TGCT	HSPB1	0.0446826415354904	1
LUAD	HSPB1	0.0475646564098992	1

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
STAD	HSPB1	0.0012877142690826	0.041
KIRP	HSPB1	0.0246362862430096	0.71
LGG	HSPB1	1.16889605331666e-10	3.9e-09
BRCA	HSPB1	0.0108604498240377	0.33
OV	HSPB1	0.0302039444183236	0.85
ESCA	HSPB1	0.00474640105884671	0.15

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P04792	DB06094	Apatorsen		Small molecule	Investigational
P04792	DB06094	Apatorsen

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C2608087	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	13	CTD_human;GENOMICS_ENGLAND;UNIPROT
C1847823	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	6	CTD_human;GENOMICS_ENGLAND;UNIPROT
C0007102	Malignant tumor of colon	1	CTD_human
C0007134	Renal Cell Carcinoma	1	CTD_human
C0007137	Squamous cell carcinoma	1	CTD_human
C0007194	Hypertrophic Cardiomyopathy	1	CTD_human
C0011616	Contact Dermatitis	1	CTD_human
C0018801	Heart failure	1	CTD_human
C0018802	Congestive heart failure	1	CTD_human
C0023212	Left-Sided Heart Failure	1	CTD_human
C0023467	Leukemia, Myelocytic, Acute	1	CTD_human
C0024623	Malignant neoplasm of stomach	1	CTD_human
C0026764	Multiple Myeloma	1	CTD_human
C0026998	Acute Myeloid Leukemia, M1	1	CTD_human
C0035126	Reperfusion Injury	1	CTD_human
C0038220	Status Epilepticus	1	CTD_human
C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
C0153349	Malignant neoplasm of tongue	1	CTD_human
C0235527	Heart Failure, Right-Sided	1	CTD_human
C0270823	Petit mal status	1	CTD_human
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CTD_human
C0311335	Grand Mal Status Epilepticus	1	CTD_human
C0393734	Complex Partial Status Epilepticus	1	CTD_human
C0751522	Status Epilepticus, Subclinical	1	CTD_human
C0751523	Non-Convulsive Status Epilepticus	1	CTD_human
C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
C1854023	Spinal muscular atrophy, Jerash type	1	ORPHANET
C1879321	Acute Myeloid Leukemia (AML-M2)	1	CTD_human
C1959583	Myocardial Failure	1	CTD_human
C2239176	Liver carcinoma	1	CTD_human
C3711384	Distal Hereditary Motor Neuropathy, Type II	1	ORPHANET
C4505456	HIV Coinfection	1	CTD_human
C4551472	Hypertrophic obstructive cardiomyopathy	1	CTD_human