HSBP1 (heat shock factor binding protein 1) - Rat Genome Database

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Gene: HSBP1 (heat shock factor binding protein 1) Homo sapiens
Analyze
Symbol: HSBP1
Name: heat shock factor binding protein 1
RGD ID: 736685
HGNC Page HGNC:5203
Description: Enables identical protein binding activity. Involved in axonal transport of mitochondrion. Predicted to be located in nucleoplasm. Predicted to be active in cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686D1664; DKFZp686O24200; heat shock factor-binding protein 1; nasopharyngeal carcinoma-associated antigen 13; NPC-A-13
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: HSBP1P1   HSBP1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381683,807,978 - 83,819,737 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1683,719,311 - 83,819,737 (+)EnsemblGRCh38hg38GRCh38
GRCh371683,841,583 - 83,853,342 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361682,399,094 - 82,404,095 (+)NCBINCBI36Build 36hg18NCBI36
Build 341682,399,093 - 82,404,095NCBI
Celera1668,142,699 - 68,147,697 (+)NCBICelera
Cytogenetic Map16q23.3NCBI
HuRef1669,593,015 - 69,598,111 (+)NCBIHuRef
CHM1_11685,252,863 - 85,257,959 (+)NCBICHM1_1
T2T-CHM13v2.01689,873,707 - 89,885,464 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon cytoplasm  (IEA)
cytosol  (IBA)
nucleoplasm  (TAS)
nucleus  (IBA,IEA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9493008   PMID:9649501   PMID:11679589   PMID:12477932   PMID:15489334   PMID:16189514   PMID:16303743   PMID:18767159   PMID:20562859   PMID:21247889   PMID:21873635   PMID:22939629  
PMID:23383273   PMID:24816843   PMID:25416956   PMID:25659891   PMID:26186194   PMID:26638075   PMID:27107014   PMID:28105056   PMID:28332148   PMID:28514442   PMID:28828227   PMID:29323280  
PMID:29844016   PMID:29892012   PMID:30572598   PMID:30884312   PMID:30979931   PMID:31015126   PMID:31515488   PMID:31586073   PMID:32129710   PMID:32296183   PMID:32353859   PMID:32398961  
PMID:32707033   PMID:33060197   PMID:33961781   PMID:34226595   PMID:35271311   PMID:35446349   PMID:38803224  


Genomics

Comparative Map Data
HSBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381683,807,978 - 83,819,737 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1683,719,311 - 83,819,737 (+)EnsemblGRCh38hg38GRCh38
GRCh371683,841,583 - 83,853,342 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361682,399,094 - 82,404,095 (+)NCBINCBI36Build 36hg18NCBI36
Build 341682,399,093 - 82,404,095NCBI
Celera1668,142,699 - 68,147,697 (+)NCBICelera
Cytogenetic Map16q23.3NCBI
HuRef1669,593,015 - 69,598,111 (+)NCBIHuRef
CHM1_11685,252,863 - 85,257,959 (+)NCBICHM1_1
T2T-CHM13v2.01689,873,707 - 89,885,464 (+)NCBIT2T-CHM13v2.0
Hsbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398120,071,277 - 120,075,668 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8120,071,227 - 120,075,661 (+)EnsemblGRCm39 Ensembl
GRCm388119,344,538 - 119,348,929 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8119,344,488 - 119,348,922 (+)EnsemblGRCm38mm10GRCm38
MGSCv378121,868,438 - 121,872,829 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368122,230,515 - 122,234,906 (+)NCBIMGSCv36mm8
Celera8123,560,285 - 123,564,676 (+)NCBICelera
Cytogenetic Map8E1NCBI
cM Map867.54NCBI
Hsbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81964,309,703 - 64,314,035 (+)NCBIGRCr8
mRatBN7.21947,401,039 - 47,405,373 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1947,400,966 - 47,435,821 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1954,195,408 - 54,199,740 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01954,875,905 - 54,880,295 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01957,090,522 - 57,094,858 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01951,985,196 - 51,989,528 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1951,985,170 - 51,989,544 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01962,733,736 - 62,738,068 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41949,589,574 - 49,594,599 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11949,594,451 - 49,599,480 (+)NCBI
Celera1946,660,240 - 46,664,572 (+)NCBICelera
Cytogenetic Map19q12NCBI
Hsbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955564396,133 - 401,251 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955564396,985 - 400,975 (-)NCBIChiLan1.0ChiLan1.0
HSBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21893,552,976 - 93,558,004 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11699,471,430 - 99,476,467 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01664,429,442 - 64,434,467 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11683,821,821 - 83,830,023 (+)NCBIpanpan1.1PanPan1.1panPan2
HSBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1568,474,960 - 68,479,206 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl568,475,948 - 68,479,145 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha568,488,788 - 68,492,964 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0568,773,360 - 68,777,530 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl568,773,360 - 68,777,489 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1568,720,849 - 68,725,018 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0568,557,358 - 68,561,548 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0568,973,475 - 68,977,644 (-)NCBIUU_Cfam_GSD_1.0
Hsbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934928,158,396 - 28,162,850 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366413,911,943 - 3,916,397 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl64,788,313 - 4,798,191 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.164,795,203 - 4,798,158 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HSBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1569,224,715 - 69,228,607 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660476,592,908 - 6,597,926 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hsbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247463,685,189 - 3,690,642 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247463,686,523 - 3,690,585 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HSBP1
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1 copy number loss See cases [RCV000053360] Chr16:81753762..85714791 [GRCh38]
Chr16:81787367..85748397 [GRCh37]
Chr16:80344868..84305898 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1 copy number loss See cases [RCV000053361] Chr16:83016872..85087809 [GRCh38]
Chr16:83050477..85121415 [GRCh37]
Chr16:81607978..83678916 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q23.3(chr16:83308441-83921719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053934]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053934]|See cases [RCV000053934] Chr16:83308441..83921719 [GRCh38]
Chr16:83342046..83955324 [GRCh37]
Chr16:81899547..82512825 [NCBI36]
Chr16:16q23.3
uncertain significance
GRCh38/hg38 16q23.3(chr16:83602431-84024341)x3 copy number gain See cases [RCV000053935] Chr16:83602431..84024341 [GRCh38]
Chr16:83636036..84057946 [GRCh37]
Chr16:82193537..82615447 [NCBI36]
Chr16:16q23.3
uncertain significance
GRCh38/hg38 16q23.3(chr16:83796168-84063463)x3 copy number gain See cases [RCV000053936] Chr16:83796168..84063463 [GRCh38]
Chr16:83829773..84097068 [GRCh37]
Chr16:82387274..82654569 [NCBI36]
Chr16:16q23.3
uncertain significance
GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1 copy number loss See cases [RCV000133929] Chr16:83399060..84908120 [GRCh38]
Chr16:83432665..84941726 [GRCh37]
Chr16:81990166..83499227 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1 copy number loss See cases [RCV000136504] Chr16:83687650..86073240 [GRCh38]
Chr16:83721255..86106846 [GRCh37]
Chr16:82278756..84664347 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3 copy number gain See cases [RCV000138549] Chr16:83478453..84036483 [GRCh38]
Chr16:83512058..84070088 [GRCh37]
Chr16:82069559..82627589 [NCBI36]
Chr16:16q23.3
uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1 copy number loss See cases [RCV000139413] Chr16:83763804..84558035 [GRCh38]
Chr16:83797409..84591641 [GRCh37]
Chr16:82354910..83149142 [NCBI36]
Chr16:16q23.3-24.1
likely pathogenic|uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3
pathogenic
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1
pathogenic
GRCh38/hg38 16q23.3(chr16:83529919-83921660)x3 copy number gain See cases [RCV000141132] Chr16:83529919..83921660 [GRCh38]
Chr16:83563524..83955265 [GRCh37]
Chr16:82121025..82512766 [NCBI36]
Chr16:16q23.3
uncertain significance
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3 copy number gain See cases [RCV000140831] Chr16:83763804..84276472 [GRCh38]
Chr16:83797409..84310078 [GRCh37]
Chr16:82354910..82867579 [NCBI36]
Chr16:16q23.3-24.1
uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1 copy number loss See cases [RCV000203439] Chr16:83553094..86098013 [GRCh37]
Chr16:16q23.3-24.1
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1 copy number loss See cases [RCV000240561] Chr16:83496909..84695933 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3
likely pathogenic
GRCh37/hg19 16q23.3(chr16:83253758-84134459)x1 copy number loss not provided [RCV000683850] Chr16:83253758..84134459 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83813294-84984350)x3 copy number gain not provided [RCV000739258] Chr16:83813294..84984350 [GRCh37]
Chr16:16q23.3-24.1
likely benign
NM_001537.4(HSBP1):c.113-118G>T single nucleotide variant not provided [RCV001680919] Chr16:83809187 [GRCh38]
Chr16:83842792 [GRCh37]
Chr16:16q23.3
benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
GRCh37/hg19 16q23.3(chr16:83553442-83973918)x3 copy number gain not provided [RCV000847793] Chr16:83553442..83973918 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1 copy number loss not provided [RCV000849998] Chr16:79254648..84827672 [GRCh37]
Chr16:16q23.2-24.1
uncertain significance
GRCh37/hg19 16q23.3(chr16:83830451-83948495)x1 copy number loss not provided [RCV000849533] Chr16:83830451..83948495 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1 copy number loss not provided [RCV001006830] Chr16:83330709..84866927 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_001537.4(HSBP1):c.*2+296G>C single nucleotide variant not provided [RCV001612444] Chr16:83809721 [GRCh38]
Chr16:83843326 [GRCh37]
Chr16:16q23.3
benign
NM_001537.4(HSBP1):c.112+170A>C single nucleotide variant not provided [RCV001619371] Chr16:83808916 [GRCh38]
Chr16:83842521 [GRCh37]
Chr16:16q23.3
benign
NC_000016.10:g.83807955G>T single nucleotide variant not provided [RCV001686534] Chr16:83807955 [GRCh38]
Chr16:83841560 [GRCh37]
Chr16:16q23.3
benign
NC_000016.10:g.83807608G>T single nucleotide variant not provided [RCV001608832] Chr16:83807608 [GRCh38]
Chr16:83841213 [GRCh37]
Chr16:16q23.3
benign
NM_001537.4(HSBP1):c.113-66G>C single nucleotide variant not provided [RCV001651601] Chr16:83809239 [GRCh38]
Chr16:83842844 [GRCh37]
Chr16:16q23.3
benign
GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026) copy number loss not specified [RCV002052553] Chr16:83313106..84608026 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3
likely pathogenic
GRCh37/hg19 16q23.3(chr16:82943629-84073053)x3 copy number gain not provided [RCV002474827] Chr16:82943629..84073053 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3 copy number gain not specified [RCV003987204] Chr16:83307393..84530337 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance
NM_001537.4(HSBP1):c.212C>G (p.Pro71Arg) single nucleotide variant not specified [RCV004404416] Chr16:83809404 [GRCh38]
Chr16:83843009 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q21-24.1(chr16:62746020-84485022)x3 copy number gain not provided [RCV004819314] Chr16:62746020..84485022 [GRCh37]
Chr16:16q21-24.1
pathogenic
NM_001537.4(HSBP1):c.224A>G (p.Lys75Arg) single nucleotide variant not specified [RCV004928969] Chr16:83809416 [GRCh38]
Chr16:83843021 [GRCh37]
Chr16:16q23.3
uncertain significance
NM_001537.4(HSBP1):c.20A>G (p.Lys7Arg) single nucleotide variant not specified [RCV004928970] Chr16:83808096 [GRCh38]
Chr16:83841701 [GRCh37]
Chr16:16q23.3
uncertain significance
NM_001537.4(HSBP1):c.206A>G (p.Lys69Arg) single nucleotide variant not specified [RCV004633164] Chr16:83809398 [GRCh38]
Chr16:83843003 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q23.3(chr16:83838342-83941401)x1 copy number loss not provided [RCV000847711] Chr16:83838342..83941401 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q23.3(chr16:83838342-83941401)x1 copy number loss not provided [RCV000847712] Chr16:83838342..83941401 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
NM_001537.4(HSBP1):c.172C>G (p.Gln58Glu) single nucleotide variant not specified [RCV004185745] Chr16:83809364 [GRCh38]
Chr16:83842969 [GRCh37]
Chr16:16q23.3
uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 copy number gain not provided [RCV004577473] Chr16:82865402..90163542 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
NM_001537.4(HSBP1):c.196A>G (p.Ser66Gly) single nucleotide variant not specified [RCV004633163] Chr16:83809388 [GRCh38]
Chr16:83842993 [GRCh37]
Chr16:16q23.3
likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1226
Count of miRNA genes:788
Interacting mature miRNAs:890
Transcripts:ENST00000433866, ENST00000567125, ENST00000567382, ENST00000569301, ENST00000570259
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597076630GWAS1172704_HFEV change measurement, response to bronchodilator QTL GWAS1172704 (human)9e-08FEV change measurement, response to bronchodilatorrespiratory system measurement (CMO:0000094)168381107383811074Human
597076690GWAS1172764_HFEV change measurement, response to bronchodilator QTL GWAS1172764 (human)0.0000004FEV change measurement, response to bronchodilatorrespiratory system measurement (CMO:0000094)168381107383811074Human

Markers in Region
D16S3242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371683,846,307 - 83,846,589UniSTSGRCh37
Build 361682,403,808 - 82,404,090RGDNCBI36
Celera1668,147,410 - 68,147,692RGD
Cytogenetic Map16q23.3UniSTS
HuRef1669,597,811 - 69,598,093UniSTS
GeneMap99-GB4 RH Map16466.72UniSTS
Whitehead-RH Map16331.6UniSTS
Whitehead-YAC Contig Map16 UniSTS
RH41809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371458,930,873 - 58,931,089UniSTSGRCh37
Build 361458,000,626 - 58,000,842RGDNCBI36
Celera1438,980,841 - 38,981,059RGD
Cytogenetic Map16q23.3UniSTS
Cytogenetic Map14q23.1UniSTS
HuRef1439,095,237 - 39,095,455UniSTS
G54097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371683,846,110 - 83,846,274UniSTSGRCh37
Build 361682,403,611 - 82,403,775RGDNCBI36
Celera1668,147,213 - 68,147,377RGD
Cytogenetic Map16q23.3UniSTS
HuRef1669,597,614 - 69,597,778UniSTS
UniSTS:109370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371683,846,089 - 83,846,316UniSTSGRCh37
Build 361682,403,590 - 82,403,817RGDNCBI36
Celera1668,147,192 - 68,147,419RGD
HuRef1669,597,593 - 69,597,820UniSTS
RH120356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371683,846,428 - 83,846,713UniSTSGRCh37
Build 361682,403,929 - 82,404,214RGDNCBI36
Celera1668,147,531 - 68,147,816RGD
Cytogenetic Map16q23.3UniSTS
HuRef1669,597,932 - 69,598,217UniSTS
TNG Radiation Hybrid Map1637867.0UniSTS
D16S2665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371683,845,091 - 83,845,179UniSTSGRCh37
Build 361682,402,592 - 82,402,680RGDNCBI36
Celera1668,146,194 - 68,146,282RGD
Cytogenetic Map16q23.3UniSTS
HuRef1669,596,595 - 69,596,683UniSTS
SHGC-31940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371683,845,259 - 83,845,366UniSTSGRCh37
Build 361682,402,760 - 82,402,867RGDNCBI36
Celera1668,146,362 - 68,146,469RGD
Cytogenetic Map16q23.3UniSTS
HuRef1669,596,763 - 69,596,870UniSTS
TNG Radiation Hybrid Map1637867.0UniSTS
GeneMap99-GB4 RH Map16466.12UniSTS
Whitehead-RH Map16329.9UniSTS
GeneMap99-G3 RH Map163625.0UniSTS
RH65446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371683,844,356 - 83,844,516UniSTSGRCh37
Build 361682,401,857 - 82,402,017RGDNCBI36
Celera1668,145,459 - 68,145,619RGD
Cytogenetic Map16q23.3UniSTS
HuRef1669,595,860 - 69,596,020UniSTS
GeneMap99-GB4 RH Map16466.72UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000433866   ⟹   ENSP00000392896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,807,978 - 83,819,737 (+)Ensembl
Ensembl Acc Id: ENST00000567382   ⟹   ENSP00000456049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,808,062 - 83,811,503 (+)Ensembl
Ensembl Acc Id: ENST00000569301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,808,004 - 83,811,667 (+)Ensembl
Ensembl Acc Id: ENST00000570259   ⟹   ENSP00000458007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,807,989 - 83,818,484 (+)Ensembl
Ensembl Acc Id: ENST00000685468   ⟹   ENSP00000509780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,807,978 - 83,814,675 (+)Ensembl
Ensembl Acc Id: ENST00000685807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,808,137 - 83,819,236 (+)Ensembl
Ensembl Acc Id: ENST00000689426   ⟹   ENSP00000509638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,808,188 - 83,814,675 (+)Ensembl
Ensembl Acc Id: ENST00000690173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,719,311 - 83,812,992 (+)Ensembl
Ensembl Acc Id: ENST00000693379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,719,311 - 83,812,992 (+)Ensembl
Ensembl Acc Id: ENST00000693758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,719,311 - 83,812,997 (+)Ensembl
RefSeq Acc Id: NM_001537   ⟹   NP_001528
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,807,978 - 83,819,737 (+)NCBI
GRCh371683,841,508 - 83,846,607 (+)NCBI
Build 361682,399,094 - 82,404,095 (+)NCBI Archive
Celera1668,142,699 - 68,147,697 (+)RGD
HuRef1669,593,015 - 69,598,111 (+)NCBI
CHM1_11685,252,863 - 85,257,959 (+)NCBI
T2T-CHM13v2.01689,873,707 - 89,885,464 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001528   ⟸   NM_001537
- UniProtKB: Q53XA8 (UniProtKB/Swiss-Prot),   Q7Z5Z3 (UniProtKB/Swiss-Prot),   O75506 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000458007   ⟸   ENST00000570259
Ensembl Acc Id: ENSP00000392896   ⟸   ENST00000433866
Ensembl Acc Id: ENSP00000456049   ⟸   ENST00000567382
Ensembl Acc Id: ENSP00000509638   ⟸   ENST00000689426
Ensembl Acc Id: ENSP00000509780   ⟸   ENST00000685468

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75506-F1-model_v2 AlphaFold O75506 1-76 view protein structure

Promoters
RGD ID:6793181
Promoter ID:HG_KWN:24358
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000299671,   NM_001537
Position:
Human AssemblyChrPosition (strand)Source
Build 361682,398,871 - 82,399,371 (+)MPROMDB
RGD ID:6852186
Promoter ID:EP73899
Type:initiation region
Name:HS_HSBP1
Description:Heat shock factor binding protein 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361682,399,123 - 82,399,183EPD
RGD ID:7232985
Promoter ID:EPDNEW_H22238
Type:initiation region
Name:HSBP1_1
Description:heat shock factor binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,808,021 - 83,808,081EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5203 AgrOrtholog
COSMIC HSBP1 COSMIC
Ensembl Genes ENSG00000230989 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000433866 ENTREZGENE
  ENST00000433866.7 UniProtKB/Swiss-Prot
  ENST00000570259.1 UniProtKB/Swiss-Prot
  ENST00000685468.1 UniProtKB/TrEMBL
  ENST00000689426.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.430 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000230989 GTEx
HGNC ID HGNC:5203 ENTREZGENE
Human Proteome Map HSBP1 Human Proteome Map
InterPro HS1-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3281 UniProtKB/Swiss-Prot
NCBI Gene 3281 ENTREZGENE
OMIM 604553 OMIM
PANTHER HEAT SHOCK FACTOR-BINDING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HSBP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29475 PharmGKB
UniProt A0A8I5KTJ3_HUMAN UniProtKB/TrEMBL
  A0A8I5KYC9_HUMAN UniProtKB/TrEMBL
  HSBP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53XA8 ENTREZGENE
  Q7Z5Z3 ENTREZGENE
UniProt Secondary Q53XA8 UniProtKB/Swiss-Prot
  Q7Z5Z3 UniProtKB/Swiss-Prot