HBP1 (HMG-box transcription factor 1) - Rat Genome Database

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Gene: HBP1 (HMG-box transcription factor 1) Homo sapiens
Analyze
Symbol: HBP1
Name: HMG-box transcription factor 1
RGD ID: 733921
HGNC Page HGNC:23200
Description: Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of lipid transport; negative regulation of reactive oxygen species biosynthetic process; and negative regulation of transcription by RNA polymerase II. Located in nuclear speck. Biomarker of osteoarthritis.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ16340; high mobility group box transcription factor 1; HMG box transcription factor 1; HMG box-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387107,169,003 - 107,202,522 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7107,168,961 - 107,202,522 (+)EnsemblGRCh38hg38GRCh38
GRCh377106,809,448 - 106,842,967 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367106,596,696 - 106,630,210 (+)NCBINCBI36Build 36hg18NCBI36
Build 347106,403,410 - 106,436,924NCBI
Celera7101,614,757 - 101,648,271 (+)NCBICelera
Cytogenetic Map7q22.3NCBI
HuRef7101,169,955 - 101,203,527 (+)NCBIHuRef
CHM1_17106,742,977 - 106,776,953 (+)NCBICHM1_1
T2T-CHM13v2.07108,485,055 - 108,518,576 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27106,170,493 - 106,204,061 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
Aroclor 1254  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fenthion  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
gallic acid  (EXP)
genistein  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
hydroxyurea  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
menadione  (EXP)
methyl methanesulfonate  (EXP)
methylphenidate  (ISO)
mitomycin C  (EXP)
motexafin gadolinium  (EXP)
N-methylformamide  (ISO)
nickel atom  (EXP)
niclosamide  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (EXP,ISO)
progesterone  (EXP,ISO)
pyrvinium  (EXP)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP)
rotenone  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP)
tauroursodeoxycholic acid  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tunicamycin  (EXP)
uranium atom  (EXP)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)
zinc acetate  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
nuclear speck  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. High mobility group box chromosomal protein 1: a novel proinflammatory mediator in synovitis. Kokkola R, etal., Arthritis Rheum 2002 Oct;46(10):2598-603.
2. STR/ort mice, a model for spontaneous osteoarthritis, exhibit elevated levels of both local and systemic inflammatory markers. Kyostio-Moore S, etal., Comp Med. 2011 Aug;61(4):346-55.
3. Proteomic profiling of adipose tissue from Zmpste24-/- mice, a model of lipodystrophy and premature aging, reveals major changes in mitochondrial function and vimentin processing. Peinado JR, etal., Mol Cell Proteomics. 2011 Nov;10(11):M111.008094. doi: 10.1074/mcp.M111.008094. Epub 2011 Aug 9.
4. Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22. Raine EV, etal., Ann Rheum Dis. 2012 Dec;71(12):2020-7. doi: 10.1136/annrheumdis-2012-201304. Epub 2012 May 14.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Heightened Innate Immune Responses in the Respiratory Tract of COVID-19 Patients. Zhou Z, etal., Cell Host Microbe. 2020 Jun 10;27(6):883-890.e2. doi: 10.1016/j.chom.2020.04.017. Epub 2020 May 4.
Additional References at PubMed
PMID:9030690   PMID:9178770   PMID:10562551   PMID:10958660   PMID:11486012   PMID:11500377   PMID:12477932   PMID:12853948   PMID:14702039   PMID:14872137   PMID:15024088   PMID:15231748  
PMID:15235594   PMID:15489334   PMID:16179914   PMID:16210625   PMID:16495219   PMID:16713569   PMID:16966377   PMID:17092945   PMID:17616670   PMID:18255255   PMID:18654987   PMID:19274049  
PMID:20008325   PMID:20211142   PMID:20383199   PMID:20505989   PMID:20581871   PMID:21873635   PMID:21967847   PMID:21988832   PMID:23249948   PMID:23613959   PMID:23859194   PMID:24762137  
PMID:24895061   PMID:25332235   PMID:25640309   PMID:25666090   PMID:26041766   PMID:26186194   PMID:26496610   PMID:26660958   PMID:26942107   PMID:27129219   PMID:28099936   PMID:28137278  
PMID:28348080   PMID:29355710   PMID:29367693   PMID:29663730   PMID:29911972   PMID:30191992   PMID:30538293   PMID:30683982   PMID:30816344   PMID:31069893   PMID:31452512   PMID:32549582  
PMID:32677158   PMID:32964956   PMID:33327874   PMID:33961781   PMID:34013373   PMID:34647674   PMID:37414199  


Genomics

Comparative Map Data
HBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387107,169,003 - 107,202,522 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7107,168,961 - 107,202,522 (+)EnsemblGRCh38hg38GRCh38
GRCh377106,809,448 - 106,842,967 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367106,596,696 - 106,630,210 (+)NCBINCBI36Build 36hg18NCBI36
Build 347106,403,410 - 106,436,924NCBI
Celera7101,614,757 - 101,648,271 (+)NCBICelera
Cytogenetic Map7q22.3NCBI
HuRef7101,169,955 - 101,203,527 (+)NCBIHuRef
CHM1_17106,742,977 - 106,776,953 (+)NCBICHM1_1
T2T-CHM13v2.07108,485,055 - 108,518,576 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27106,170,493 - 106,204,061 (+)NCBI
Hbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391231,976,449 - 32,000,529 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1231,976,253 - 32,000,534 (-)EnsemblGRCm39 Ensembl
GRCm381231,926,452 - 31,950,530 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1231,926,254 - 31,950,535 (-)EnsemblGRCm38mm10GRCm38
MGSCv371232,611,320 - 32,635,400 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361232,511,722 - 32,535,470 (-)NCBIMGSCv36mm8
Celera1233,380,824 - 33,404,870 (-)NCBICelera
Cytogenetic Map12A3NCBI
cM Map1213.73NCBI
Hbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8654,257,118 - 54,283,373 (-)NCBIGRCr8
mRatBN7.2648,529,633 - 48,555,775 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl648,529,372 - 48,555,787 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx648,837,793 - 48,863,970 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0649,152,718 - 49,178,887 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0648,598,406 - 48,624,925 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0651,231,479 - 51,257,699 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl651,231,480 - 51,257,625 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0659,902,128 - 59,929,303 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4650,201,281 - 50,227,095 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1650,204,414 - 50,230,207 (-)NCBI
Celera647,731,479 - 47,757,413 (-)NCBICelera
Cytogenetic Map6q16NCBI
Hbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541011,626,743 - 11,652,343 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541011,626,743 - 11,652,343 (+)NCBIChiLan1.0ChiLan1.0
HBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26144,007,533 - 144,045,553 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17192,277,473 - 192,315,521 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0799,147,813 - 99,181,335 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17111,873,196 - 111,906,437 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7111,873,874 - 111,906,437 (+)Ensemblpanpan1.1panPan2
HBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11813,339,359 - 13,368,105 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1813,340,287 - 13,367,915 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1812,988,611 - 13,017,129 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01813,609,874 - 13,638,451 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1813,609,874 - 13,638,352 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11813,426,228 - 13,454,700 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01813,346,402 - 13,374,871 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01813,624,135 - 13,652,695 (-)NCBIUU_Cfam_GSD_1.0
Hbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511855,731,599 - 55,762,501 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647916,854,852 - 16,886,477 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647916,855,368 - 16,886,210 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9106,966,060 - 106,993,911 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19106,966,060 - 106,993,915 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12176,088,411 - 76,121,884 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2176,088,542 - 76,124,610 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604227,736,235 - 27,769,619 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473922,504,235 - 22,531,595 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473922,504,766 - 22,531,718 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HBP1
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1 copy number loss See cases [RCV000050924] Chr7:101807149..112414850 [GRCh38]
Chr7:101450429..112054905 [GRCh37]
Chr7:101237149..111842141 [NCBI36]
Chr7:7q22.1-31.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1 copy number loss See cases [RCV000054158] Chr7:106261939..111228036 [GRCh38]
Chr7:105902385..110868092 [GRCh37]
Chr7:105689621..110655328 [NCBI36]
Chr7:7q22.3-31.1		 pathogenic
NM_012257.3(HBP1):c.168T>C (p.Leu56=) single nucleotide variant Malignant melanoma [RCV000061520] Chr7:107180061 [GRCh38]
Chr7:106820506 [GRCh37]
Chr7:106607742 [NCBI36]
Chr7:7q22.3		 not provided
NM_001244262.1(HBP1):c.16-5188G>T single nucleotide variant Lung cancer [RCV000097391] Chr7:107174691 [GRCh38]
Chr7:106815136 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31		 pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1 copy number loss See cases [RCV000142628] Chr7:105575647..107949294 [GRCh38]
Chr7:105216094..107589739 [GRCh37]
Chr7:105003330..107376975 [NCBI36]
Chr7:7q22.3-31.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012257.4(HBP1):c.*974G>A single nucleotide variant COG5-congenital disorder of glycosylation [RCV000267253] Chr7:107202405 [GRCh38]
Chr7:106842850 [GRCh37]
Chr7:7q22.3		 likely benign|uncertain significance
NM_012257.4(HBP1):c.*365T>C single nucleotide variant COG5-congenital disorder of glycosylation [RCV000356214] Chr7:107201796 [GRCh38]
Chr7:106842241 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.*448C>T single nucleotide variant COG5-congenital disorder of glycosylation [RCV000266243]|not provided [RCV003422351] Chr7:107201879 [GRCh38]
Chr7:106842324 [GRCh37]
Chr7:7q22.3		 benign|uncertain significance
NM_012257.4(HBP1):c.*809_*812dup duplication Congenital disorder of glycosylation [RCV000361846] Chr7:107202238..107202239 [GRCh38]
Chr7:106842683..106842684 [GRCh37]
Chr7:7q22.3		 likely benign
NM_012257.4(HBP1):c.*601A>G single nucleotide variant COG5-congenital disorder of glycosylation [RCV000302487] Chr7:107202032 [GRCh38]
Chr7:106842477 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.*1088C>T single nucleotide variant COG5-congenital disorder of glycosylation [RCV000380833] Chr7:107202519 [GRCh38]
Chr7:106842964 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.*1087_*1088insAA insertion Congenital disorder of glycosylation [RCV000327072] Chr7:107202518..107202519 [GRCh38]
Chr7:106842963..106842964 [GRCh37]
Chr7:7q22.3		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012257.4(HBP1):c.715A>G (p.Arg239Gly) single nucleotide variant Inborn genetic diseases [RCV003241042] Chr7:107186631 [GRCh38]
Chr7:106827076 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012257.4(HBP1):c.*617C>A single nucleotide variant COG5-congenital disorder of glycosylation [RCV001164162] Chr7:107202048 [GRCh38]
Chr7:106842493 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857) copy number loss See cases [RCV000993745] Chr7:104506008..107408857 [GRCh37]
Chr7:7q22.3-31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.3(chr7:106596321-106910550)x1 copy number loss not provided [RCV001005990] Chr7:106596321..106910550 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1 copy number loss not provided [RCV001005991] Chr7:106617406..123217914 [GRCh37]
Chr7:7q22.3-31.32		 pathogenic
NC_000007.13:g.(?_104456677)_(108155935_?)del deletion not provided [RCV003107618] Chr7:104456677..108155935 [GRCh37]
Chr7:7q22.2-31.1		 pathogenic
NM_012257.4(HBP1):c.*343C>T single nucleotide variant COG5-congenital disorder of glycosylation [RCV001164161] Chr7:107201774 [GRCh38]
Chr7:106842219 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.-16+663G>C single nucleotide variant not provided [RCV001692898] Chr7:107169848 [GRCh38]
Chr7:106810293 [GRCh37]
Chr7:7q22.3		 benign
NM_012257.4(HBP1):c.*745T>C single nucleotide variant COG5-congenital disorder of glycosylation [RCV001164165] Chr7:107202176 [GRCh38]
Chr7:106842621 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.*842A>G single nucleotide variant COG5-congenital disorder of glycosylation [RCV001159264] Chr7:107202273 [GRCh38]
Chr7:106842718 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.*636C>T single nucleotide variant COG5-congenital disorder of glycosylation [RCV001164163] Chr7:107202067 [GRCh38]
Chr7:106842512 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.*659T>C single nucleotide variant COG5-congenital disorder of glycosylation [RCV001164164] Chr7:107202090 [GRCh38]
Chr7:106842535 [GRCh37]
Chr7:7q22.3		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1		 pathogenic
GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160) copy number loss not specified [RCV002053712] Chr7:100676872..119156160 [GRCh37]
Chr7:7q22.1-31.31		 pathogenic
NC_000007.13:g.(?_102937907)_(107643330_?)dup duplication not provided [RCV003113939] Chr7:102937907..107643330 [GRCh37]
Chr7:7q22.1-31.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_012257.4(HBP1):c.11A>G (p.Glu4Gly) single nucleotide variant Inborn genetic diseases [RCV002729063] Chr7:107179904 [GRCh38]
Chr7:106820349 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.1130G>A (p.Arg377His) single nucleotide variant Inborn genetic diseases [RCV002752056] Chr7:107195896 [GRCh38]
Chr7:106836341 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.149G>A (p.Cys50Tyr) single nucleotide variant Inborn genetic diseases [RCV002861111] Chr7:107180042 [GRCh38]
Chr7:106820487 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.40G>A (p.Val14Ile) single nucleotide variant Inborn genetic diseases [RCV002906214] Chr7:107179933 [GRCh38]
Chr7:106820378 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.1167A>C (p.Gln389His) single nucleotide variant Inborn genetic diseases [RCV002946847] Chr7:107195933 [GRCh38]
Chr7:106836378 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.1271G>A (p.Gly424Glu) single nucleotide variant Inborn genetic diseases [RCV002860254] Chr7:107196037 [GRCh38]
Chr7:106836482 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.1021G>A (p.Asp341Asn) single nucleotide variant Inborn genetic diseases [RCV002794706] Chr7:107190271 [GRCh38]
Chr7:106830716 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.164A>G (p.Glu55Gly) single nucleotide variant Inborn genetic diseases [RCV002949963] Chr7:107180057 [GRCh38]
Chr7:106820502 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.780T>A (p.Asp260Glu) single nucleotide variant Inborn genetic diseases [RCV002924125] Chr7:107189306 [GRCh38]
Chr7:106829751 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.1519A>G (p.Thr507Ala) single nucleotide variant Inborn genetic diseases [RCV002661212] Chr7:107200293 [GRCh38]
Chr7:106840738 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.1291C>T (p.Pro431Ser) single nucleotide variant Inborn genetic diseases [RCV002911936] Chr7:107196057 [GRCh38]
Chr7:106836502 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.523C>T (p.Pro175Ser) single nucleotide variant Inborn genetic diseases [RCV002931415] Chr7:107185925 [GRCh38]
Chr7:106826370 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.1532C>T (p.Ser511Leu) single nucleotide variant Inborn genetic diseases [RCV002934588] Chr7:107201418 [GRCh38]
Chr7:106841863 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.1267T>G (p.Ser423Ala) single nucleotide variant Inborn genetic diseases [RCV003178882] Chr7:107196033 [GRCh38]
Chr7:106836478 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_012257.4(HBP1):c.457C>T (p.Pro153Ser) single nucleotide variant Inborn genetic diseases [RCV003193411] Chr7:107185859 [GRCh38]
Chr7:106826304 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1 copy number loss not provided [RCV003482977] Chr7:104536649..109624996 [GRCh37]
Chr7:7q22.3-31.1		 pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23541945
MIR17hsa-miR-17-5pMirtarbaseexternal_infoReporter assayFunctional MTI20505989
MIR17hsa-miR-17-5pOncomiRDBexternal_infoNANA20505989

Predicted Target Of
Summary Value
Count of predictions:2595
Count of miRNA genes:965
Interacting mature miRNAs:1173
Transcripts:ENST00000222574, ENST00000461963, ENST00000463202, ENST00000463790, ENST00000464009, ENST00000468116, ENST00000468401, ENST00000468410, ENST00000478930, ENST00000479011, ENST00000483809, ENST00000485846, ENST00000497535, ENST00000498408, ENST00000607681
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
A004F09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,839,281 - 106,839,487UniSTSGRCh37
Build 367106,626,517 - 106,626,723RGDNCBI36
Celera7101,644,578 - 101,644,784RGD
Cytogenetic Map7q22-q31UniSTS
HuRef7101,199,834 - 101,200,040UniSTS
CRA_TCAGchr7v27106,200,368 - 106,200,574UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
SGC34252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,842,245 - 106,842,373UniSTSGRCh37
Build 367106,629,481 - 106,629,609RGDNCBI36
Celera7101,647,542 - 101,647,670RGD
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map7q31UniSTS
HuRef7101,202,798 - 101,202,926UniSTS
CRA_TCAGchr7v27106,203,332 - 106,203,460UniSTS
GeneMap99-GB4 RH Map7526.64UniSTS
Whitehead-RH Map7483.3UniSTS
RH46323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,832,620 - 106,832,739UniSTSGRCh37
Build 367106,619,856 - 106,619,975RGDNCBI36
Celera7101,637,917 - 101,638,036RGD
Cytogenetic Map7q22-q31UniSTS
HuRef7101,193,173 - 101,193,292UniSTS
CRA_TCAGchr7v27106,193,707 - 106,193,826UniSTS
GeneMap99-GB4 RH Map7526.64UniSTS
NCBI RH Map71089.7UniSTS
SGC44497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,832,494 - 106,832,742UniSTSGRCh37
Build 367106,619,730 - 106,619,978RGDNCBI36
Celera7101,637,791 - 101,638,039RGD
Cytogenetic Map7q22-q31UniSTS
HuRef7101,193,047 - 101,193,295UniSTS
CRA_TCAGchr7v27106,193,581 - 106,193,829UniSTS
GeneMap99-GB4 RH Map7528.59UniSTS
Whitehead-RH Map7483.8UniSTS
NCBI RH Map71089.7UniSTS
G67890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,826,824 - 106,827,069UniSTSGRCh37
Build 367106,614,060 - 106,614,305RGDNCBI36
Celera7101,632,121 - 101,632,366RGD
Cytogenetic Map7q22-q31UniSTS
CRA_TCAGchr7v27106,187,911 - 106,188,156UniSTS
WI-17975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,841,849 - 106,841,976UniSTSGRCh37
Build 367106,629,085 - 106,629,212RGDNCBI36
Celera7101,647,146 - 101,647,273RGD
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q22-q31UniSTS
HuRef7101,202,402 - 101,202,529UniSTS
CRA_TCAGchr7v27106,202,936 - 106,203,063UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
Whitehead-RH Map7483.9UniSTS
NCBI RH Map71089.7UniSTS
D7S2333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,839,262 - 106,839,487UniSTSGRCh37
Build 367106,626,498 - 106,626,723RGDNCBI36
Celera7101,644,559 - 101,644,784RGD
Cytogenetic Map7q22-q31UniSTS
HuRef7101,199,815 - 101,200,040UniSTS
CRA_TCAGchr7v27106,200,349 - 106,200,574UniSTS
GeneMap99-GB4 RH Map7526.64UniSTS
Whitehead-RH Map7483.2UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71089.7UniSTS
RH16458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,842,371 - 106,842,500UniSTSGRCh37
Build 367106,629,607 - 106,629,736RGDNCBI36
Celera7101,647,668 - 101,647,797RGD
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map7q31UniSTS
HuRef7101,202,924 - 101,203,053UniSTS
CRA_TCAGchr7v27106,203,458 - 106,203,587UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
NCBI RH Map71089.7UniSTS
STS-N63962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,843,226 - 106,843,470UniSTSGRCh37
Build 367106,630,462 - 106,630,706RGDNCBI36
Celera7101,648,523 - 101,648,767RGD
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map7q31UniSTS
HuRef7101,203,779 - 101,204,023UniSTS
CRA_TCAGchr7v27106,204,313 - 106,204,557UniSTS
GeneMap99-GB4 RH Map7527.88UniSTS
RH12237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,842,750 - 106,842,875UniSTSGRCh37
Build 367106,629,986 - 106,630,111RGDNCBI36
Celera7101,648,047 - 101,648,172RGD
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map7q31UniSTS
HuRef7101,203,303 - 101,203,428UniSTS
CRA_TCAGchr7v27106,203,837 - 106,203,962UniSTS
GeneMap99-GB4 RH Map7526.64UniSTS
D7S2108E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,839,277 - 106,839,382UniSTSGRCh37
Build 367106,626,513 - 106,626,618RGDNCBI36
Celera7101,644,574 - 101,644,679RGD
Cytogenetic Map7q22-q31UniSTS
HuRef7101,199,830 - 101,199,935UniSTS
CRA_TCAGchr7v27106,200,364 - 106,200,469UniSTS
Stanford-G3 RH Map75360.0UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
NCBI RH Map71089.7UniSTS
GeneMap99-G3 RH Map75360.0UniSTS
D7S1412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,832,458 - 106,832,517UniSTSGRCh37
Build 367106,619,694 - 106,619,753RGDNCBI36
Celera7101,637,755 - 101,637,814RGD
Cytogenetic Map7q22-q31UniSTS
HuRef7101,193,011 - 101,193,070UniSTS
CRA_TCAGchr7v27106,193,545 - 106,193,604UniSTS
G73140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,842,139 - 106,842,560UniSTSGRCh37
Build 367106,629,375 - 106,629,796RGDNCBI36
Celera7101,647,436 - 101,647,857RGD
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q22-q31UniSTS
HuRef7101,202,692 - 101,203,113UniSTS
CRA_TCAGchr7v27106,203,226 - 106,203,647UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2292 2474 1437 397 1582 239 4323 1900 1687 311 1398 1577 169 1194 2769 4
Low 140 511 287 226 367 225 33 292 2028 107 54 32 2 1 10 19 1
Below cutoff 3 2 2 1 1 2 16 1 6 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001244262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF019214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF182038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222574   ⟹   ENSP00000222574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,169,003 - 107,202,522 (+)Ensembl
RefSeq Acc Id: ENST00000461963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,186,464 - 107,200,300 (+)Ensembl
RefSeq Acc Id: ENST00000463202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,179,878 - 107,201,404 (+)Ensembl
RefSeq Acc Id: ENST00000463790   ⟹   ENSP00000419143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,195,982 - 107,201,454 (+)Ensembl
RefSeq Acc Id: ENST00000464009   ⟹   ENSP00000420137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,169,000 - 107,182,576 (+)Ensembl
RefSeq Acc Id: ENST00000468116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,169,767 - 107,174,527 (+)Ensembl
RefSeq Acc Id: ENST00000468401   ⟹   ENSP00000420281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,169,720 - 107,179,978 (+)Ensembl
RefSeq Acc Id: ENST00000468410   ⟹   ENSP00000420500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,168,961 - 107,202,508 (+)Ensembl
RefSeq Acc Id: ENST00000478930   ⟹   ENSP00000418022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,168,990 - 107,182,415 (+)Ensembl
RefSeq Acc Id: ENST00000479011   ⟹   ENSP00000417927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,179,626 - 107,182,536 (+)Ensembl
RefSeq Acc Id: ENST00000483809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,189,876 - 107,195,973 (+)Ensembl
RefSeq Acc Id: ENST00000485846   ⟹   ENSP00000418738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,169,773 - 107,201,635 (+)Ensembl
RefSeq Acc Id: ENST00000497535   ⟹   ENSP00000417631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,169,769 - 107,182,528 (+)Ensembl
RefSeq Acc Id: ENST00000498408   ⟹   ENSP00000418017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,179,918 - 107,197,122 (+)Ensembl
RefSeq Acc Id: ENST00000607681   ⟹   ENSP00000475809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7107,195,848 - 107,200,331 (+)Ensembl
RefSeq Acc Id: NM_001244262   ⟹   NP_001231191
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,169,003 - 107,202,522 (+)NCBI
GRCh377106,809,406 - 106,842,974 (+)NCBI
HuRef7101,169,955 - 101,203,527 (+)NCBI
CHM1_17106,742,977 - 106,776,953 (+)NCBI
T2T-CHM13v2.07108,485,055 - 108,518,576 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012257   ⟹   NP_036389
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,169,003 - 107,202,522 (+)NCBI
GRCh377106,809,406 - 106,842,974 (+)NCBI
Build 367106,596,696 - 106,630,210 (+)NCBI Archive
HuRef7101,169,955 - 101,203,527 (+)NCBI
CHM1_17106,743,031 - 106,776,953 (+)NCBI
T2T-CHM13v2.07108,485,055 - 108,518,576 (+)NCBI
CRA_TCAGchr7v27106,170,493 - 106,204,061 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250266   ⟹   XP_005250323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,169,924 - 107,202,522 (+)NCBI
GRCh377106,809,406 - 106,842,974 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011967   ⟹   XP_016867456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,169,003 - 107,202,522 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446713   ⟹   XP_024302481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,169,924 - 107,202,522 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446714   ⟹   XP_024302482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,169,003 - 107,202,522 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047420190   ⟹   XP_047276146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,169,003 - 107,190,317 (+)NCBI
RefSeq Acc Id: XM_054357872   ⟹   XP_054213847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07108,485,799 - 108,518,576 (+)NCBI
RefSeq Acc Id: XM_054357873   ⟹   XP_054213848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07108,485,799 - 108,518,576 (+)NCBI
RefSeq Acc Id: XM_054357874   ⟹   XP_054213849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07108,485,055 - 108,518,576 (+)NCBI
RefSeq Acc Id: XM_054357875   ⟹   XP_054213850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07108,485,055 - 108,518,576 (+)NCBI
RefSeq Acc Id: XM_054357876   ⟹   XP_054213851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07108,485,055 - 108,506,371 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001231191 (Get FASTA)   NCBI Sequence Viewer  
  NP_036389 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250323 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867456 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302481 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302482 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188104 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188105 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188106 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188107 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213847 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213848 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213849 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213850 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213851 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB71862 (Get FASTA)   NCBI Sequence Viewer  
  AAC08317 (Get FASTA)   NCBI Sequence Viewer  
  AAD56225 (Get FASTA)   NCBI Sequence Viewer  
  AAH17069 (Get FASTA)   NCBI Sequence Viewer  
  AAH22329 (Get FASTA)   NCBI Sequence Viewer  
  BAB85059 (Get FASTA)   NCBI Sequence Viewer  
  BAG53729 (Get FASTA)   NCBI Sequence Viewer  
  BAG58698 (Get FASTA)   NCBI Sequence Viewer  
  BAG60711 (Get FASTA)   NCBI Sequence Viewer  
  EAW83392 (Get FASTA)   NCBI Sequence Viewer  
  EAW83393 (Get FASTA)   NCBI Sequence Viewer  
  EAW83394 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000222574
  ENSP00000222574.4
  ENSP00000417631.1
  ENSP00000417927.1
  ENSP00000418017.1
  ENSP00000418022.1
  ENSP00000418738
  ENSP00000418738.1
  ENSP00000419143.1
  ENSP00000420137.1
  ENSP00000420281.1
  ENSP00000420500.1
  ENSP00000475809.1
  ENSP00000491311.1
  ENSP00000492167.1
  ENSP00000492343.1
GenBank Protein O60381 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_036389   ⟸   NM_012257
- Peptide Label: isoform 2
- UniProtKB: Q8TE93 (UniProtKB/Swiss-Prot),   Q8TBM1 (UniProtKB/Swiss-Prot),   B3KVB7 (UniProtKB/Swiss-Prot),   Q96AJ2 (UniProtKB/Swiss-Prot),   O60381 (UniProtKB/Swiss-Prot),   O14790 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001231191   ⟸   NM_001244262
- Peptide Label: isoform 1
- UniProtKB: B4DJ36 (UniProtKB/TrEMBL),   O14790 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250323   ⟸   XM_005250266
- Peptide Label: isoform X1
- UniProtKB: Q8TE93 (UniProtKB/Swiss-Prot),   Q8TBM1 (UniProtKB/Swiss-Prot),   B3KVB7 (UniProtKB/Swiss-Prot),   Q96AJ2 (UniProtKB/Swiss-Prot),   O60381 (UniProtKB/Swiss-Prot),   O14790 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867456   ⟸   XM_017011967
- Peptide Label: isoform X1
- UniProtKB: Q8TE93 (UniProtKB/Swiss-Prot),   Q8TBM1 (UniProtKB/Swiss-Prot),   B3KVB7 (UniProtKB/Swiss-Prot),   Q96AJ2 (UniProtKB/Swiss-Prot),   O60381 (UniProtKB/Swiss-Prot),   O14790 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302482   ⟸   XM_024446714
- Peptide Label: isoform X1
- UniProtKB: Q8TE93 (UniProtKB/Swiss-Prot),   Q8TBM1 (UniProtKB/Swiss-Prot),   O60381 (UniProtKB/Swiss-Prot),   B3KVB7 (UniProtKB/Swiss-Prot),   Q96AJ2 (UniProtKB/Swiss-Prot),   O14790 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302481   ⟸   XM_024446713
- Peptide Label: isoform X1
- UniProtKB: Q8TE93 (UniProtKB/Swiss-Prot),   Q8TBM1 (UniProtKB/Swiss-Prot),   O60381 (UniProtKB/Swiss-Prot),   B3KVB7 (UniProtKB/Swiss-Prot),   Q96AJ2 (UniProtKB/Swiss-Prot),   O14790 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000419143   ⟸   ENST00000463790
RefSeq Acc Id: ENSP00000418022   ⟸   ENST00000478930
RefSeq Acc Id: ENSP00000420137   ⟸   ENST00000464009
RefSeq Acc Id: ENSP00000417927   ⟸   ENST00000479011
RefSeq Acc Id: ENSP00000420281   ⟸   ENST00000468401
RefSeq Acc Id: ENSP00000420500   ⟸   ENST00000468410
RefSeq Acc Id: ENSP00000417631   ⟸   ENST00000497535
RefSeq Acc Id: ENSP00000418017   ⟸   ENST00000498408
RefSeq Acc Id: ENSP00000418738   ⟸   ENST00000485846
RefSeq Acc Id: ENSP00000222574   ⟸   ENST00000222574
RefSeq Acc Id: ENSP00000475809   ⟸   ENST00000607681
RefSeq Acc Id: XP_047276146   ⟸   XM_047420190
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213850   ⟸   XM_054357875
- Peptide Label: isoform X1
- UniProtKB: Q8TE93 (UniProtKB/Swiss-Prot),   Q8TBM1 (UniProtKB/Swiss-Prot),   O60381 (UniProtKB/Swiss-Prot),   B3KVB7 (UniProtKB/Swiss-Prot),   Q96AJ2 (UniProtKB/Swiss-Prot),   O14790 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213849   ⟸   XM_054357874
- Peptide Label: isoform X1
- UniProtKB: Q8TE93 (UniProtKB/Swiss-Prot),   Q8TBM1 (UniProtKB/Swiss-Prot),   O60381 (UniProtKB/Swiss-Prot),   B3KVB7 (UniProtKB/Swiss-Prot),   Q96AJ2 (UniProtKB/Swiss-Prot),   O14790 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213851   ⟸   XM_054357876
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213848   ⟸   XM_054357873
- Peptide Label: isoform X1
- UniProtKB: Q8TE93 (UniProtKB/Swiss-Prot),   Q8TBM1 (UniProtKB/Swiss-Prot),   O60381 (UniProtKB/Swiss-Prot),   B3KVB7 (UniProtKB/Swiss-Prot),   Q96AJ2 (UniProtKB/Swiss-Prot),   O14790 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213847   ⟸   XM_054357872
- Peptide Label: isoform X1
- UniProtKB: Q8TE93 (UniProtKB/Swiss-Prot),   Q8TBM1 (UniProtKB/Swiss-Prot),   O60381 (UniProtKB/Swiss-Prot),   B3KVB7 (UniProtKB/Swiss-Prot),   Q96AJ2 (UniProtKB/Swiss-Prot),   O14790 (UniProtKB/TrEMBL)
Protein Domains
AXH   HMG box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60381-F1-model_v2 AlphaFold O60381 1-514 view protein structure

Promoters
RGD ID:6805751
Promoter ID:HG_KWN:59208
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:NM_012257
Position:
Human AssemblyChrPosition (strand)Source
Build 367106,595,946 - 106,596,807 (+)MPROMDB
RGD ID:6805752
Promoter ID:HG_KWN:59209
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003VDZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367106,596,456 - 106,597,647 (+)MPROMDB
RGD ID:6851150
Promoter ID:EP73372
Type:multiple initiation site
Name:HS_HBP1
Description:HMG-box containing 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 367106,596,684 - 106,596,744EPD
RGD ID:7211615
Promoter ID:EPDNEW_H11554
Type:initiation region
Name:HBP1_1
Description:HMG-box transcription factor 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
GRCh387107,169,003 - 107,169,063EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23200 AgrOrtholog
COSMIC HBP1 COSMIC
Ensembl Genes ENSG00000105856 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000283847 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000222574 ENTREZGENE
  ENST00000222574.9 UniProtKB/Swiss-Prot
  ENST00000463790.1 UniProtKB/TrEMBL
  ENST00000464009.1 UniProtKB/TrEMBL
  ENST00000468401.1 UniProtKB/TrEMBL
  ENST00000468410.5 UniProtKB/Swiss-Prot
  ENST00000478930.5 UniProtKB/TrEMBL
  ENST00000479011.1 UniProtKB/TrEMBL
  ENST00000485846 ENTREZGENE
  ENST00000485846.5 UniProtKB/Swiss-Prot
  ENST00000497535.5 UniProtKB/TrEMBL
  ENST00000498408.1 UniProtKB/TrEMBL
  ENST00000607681.1 UniProtKB/TrEMBL
  ENST00000638303.2 UniProtKB/Swiss-Prot
  ENST00000638893.1 UniProtKB/Swiss-Prot
  ENST00000640195.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105856 GTEx
  ENSG00000283847 GTEx
HGNC ID HGNC:23200 ENTREZGENE
Human Proteome Map HBP1 Human Proteome Map
InterPro Ataxin_AXH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ataxin_AXH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HBP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26959 UniProtKB/Swiss-Prot
NCBI Gene 26959 ENTREZGENE
OMIM 616714 OMIM
PANTHER HMG BOX-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15499 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AXH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134901346 PharmGKB
PROSITE AXH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_BOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AXH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF102031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47095 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KVB7 ENTREZGENE
  B4DJ36 ENTREZGENE, UniProtKB/TrEMBL
  C9J5U3_HUMAN UniProtKB/TrEMBL
  C9J8V6_HUMAN UniProtKB/TrEMBL
  C9JAW1_HUMAN UniProtKB/TrEMBL
  C9JPK6_HUMAN UniProtKB/TrEMBL
  C9JQU7_HUMAN UniProtKB/TrEMBL
  H7C4S2_HUMAN UniProtKB/TrEMBL
  H7C574_HUMAN UniProtKB/TrEMBL
  HBP1_HUMAN UniProtKB/Swiss-Prot
  O14790 ENTREZGENE, UniProtKB/TrEMBL
  O60381 ENTREZGENE
  Q8TBM1 ENTREZGENE
  Q8TE93 ENTREZGENE
  Q96AJ2 ENTREZGENE
  U3KQE5_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KVB7 UniProtKB/Swiss-Prot
  Q8TBM1 UniProtKB/Swiss-Prot
  Q8TE93 UniProtKB/Swiss-Prot
  Q96AJ2 UniProtKB/Swiss-Prot