HBQ1 (hemoglobin subunit theta 1) - Rat Genome Database

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Gene: HBQ1 (hemoglobin subunit theta 1) Homo sapiens
Analyze
Symbol: HBQ1
Name: hemoglobin subunit theta 1
RGD ID: 1313995
HGNC Page HGNC:4833
Description: Predicted to enable several functions, including heme binding activity; oxygen binding activity; and oxygen carrier activity. Predicted to contribute to haptoglobin binding activity and peroxidase activity. Predicted to be involved in hydrogen peroxide catabolic process. Predicted to be located in blood microparticle. Predicted to be part of haptoglobin-hemoglobin complex and hemoglobin complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HBQ; hemoglobin subunit theta-1; hemoglobin theta-1 chain; hemoglobin, theta 1; theta-1-globin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh3816180,459 - 181,179 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl16180,459 - 181,179 (+)EnsemblGRCh38hg38GRCh38
GRCh3716230,458 - 231,178 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3616170,335 - 171,178 (+)NCBINCBI36Build 36hg18NCBI36
Build 3416170,334 - 171,178NCBI
Celera16429,850 - 430,693 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef16148,375 - 149,220 (+)NCBIHuRef
CHM1_116230,340 - 231,185 (+)NCBICHM1_1
T2T-CHM13v2.016174,501 - 175,221 (+)NCBIT2T-CHM13v2.0
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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2569721   PMID:2649166   PMID:2921315   PMID:3408475   PMID:3422341   PMID:7555018   PMID:11157797   PMID:12477932   PMID:15489334   PMID:16138310   PMID:16728641   PMID:21453942  
PMID:21873635   PMID:25416956   PMID:31515488   PMID:32296183   PMID:33961781   PMID:36724073  


Genomics

Comparative Map Data
HBQ1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3816180,459 - 181,179 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl16180,459 - 181,179 (+)EnsemblGRCh38hg38GRCh38
GRCh3716230,458 - 231,178 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3616170,335 - 171,178 (+)NCBINCBI36Build 36hg18NCBI36
Build 3416170,334 - 171,178NCBI
Celera16429,850 - 430,693 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef16148,375 - 149,220 (+)NCBIHuRef
CHM1_116230,340 - 231,185 (+)NCBICHM1_1
T2T-CHM13v2.016174,501 - 175,221 (+)NCBIT2T-CHM13v2.0
Hbq1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391132,236,964 - 32,237,912 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1132,236,965 - 32,237,784 (+)EnsemblGRCm39 Ensembl
GRCm381132,286,964 - 32,287,912 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1132,286,965 - 32,287,784 (+)EnsemblGRCm38mm10GRCm38
MGSCv371132,186,964 - 32,187,912 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361132,186,964 - 32,187,912 (+)NCBIMGSCv36mm8
Celera1134,704,307 - 34,705,255 (+)NCBICelera
Cytogenetic Map11A4NCBI
cM Map1118.86NCBI
Hbq1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81015,838,752 - 15,840,074 (-)NCBIGRCr8
mRatBN7.21015,334,293 - 15,336,061 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1015,307,815 - 15,338,392 (-)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl1015,320,762 - 15,321,397 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01015,599,821 - 15,602,680 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1015,600,220 - 15,600,858 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01015,494,916 - 15,497,693 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41015,581,391 - 15,582,593 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1015,001,884 - 15,004,743 (-)NCBICelera
Cytogenetic Map10q12NCBI
Hbq1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544217,000,811 - 17,004,033 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544217,000,811 - 17,004,033 (-)NCBIChiLan1.0ChiLan1.0
HBQ1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v218395,417 - 396,171 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1164,188,344 - 4,195,877 (+)NCBINHGRI_mPanPan1
PanPan1.116170,684 - 171,524 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl16170,684 - 171,524 (+)Ensemblpanpan1.1panPan2
HBQ1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha641,575,264 - 41,585,803 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0640,654,729 - 40,665,315 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1640,342,936 - 40,353,434 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0640,303,929 - 40,314,398 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0640,782,452 - 40,793,023 (-)NCBIUU_Cfam_GSD_1.0
Hbq1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344112,627,625 - 112,628,512 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936501725,483 - 726,665 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936501725,485 - 726,477 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HBQ1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl341,478,270 - 41,480,119 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1341,478,282 - 41,480,152 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2340,953,735 - 40,954,480 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HBQ1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.15133,766 - 134,752 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl5134,059 - 134,681 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236686382,968 - 3,706 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in HBQ1
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000016.10:g.(?_151209)_(182142_?)del deletion alpha Thalassemia [RCV000576437] Chr16:151209..182142 [GRCh38]
Chr16:201208..232141 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:165725-180586)x1 copy number loss See cases [RCV000050953] Chr16:165725..180586 [GRCh38]
Chr16:215724..230585 [GRCh37]
Chr16:155724..170585 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 copy number loss See cases [RCV000053267] Chr16:105429..1499893 [GRCh38]
Chr16:155427..1549894 [GRCh37]
Chr16:95427..1489895 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:152050-180589)x1 copy number loss See cases [RCV000053268] Chr16:152050..180589 [GRCh38]
Chr16:202049..230588 [GRCh37]
Chr16:142049..170588 [NCBI36]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.(?_169780)_(182142_?)del deletion alpha Thalassemia [RCV000576620] Chr16:169780..182142 [GRCh38]
Chr16:219779..232141 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:180542-181197)x1 copy number loss See cases [RCV000133823] Chr16:180542..181197 [GRCh38]
Chr16:230541..231196 [GRCh37]
Chr16:170541..171196 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:165675-182685)x1 copy number loss See cases [RCV000134063] Chr16:165675..182685 [GRCh38]
Chr16:215674..232684 [GRCh37]
Chr16:155674..172684 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 copy number loss See cases [RCV000134917] Chr16:46766..1544014 [GRCh38]
Chr16:96766..1594015 [GRCh37]
Chr16:36766..1534016 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:165500-184338)x1 copy number loss See cases [RCV000137654] Chr16:165500..184338 [GRCh38]
Chr16:215499..234337 [GRCh37]
Chr16:155499..174337 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-882211)x1 copy number loss See cases [RCV000137979] Chr16:46766..882211 [GRCh38]
Chr16:96766..932211 [GRCh37]
Chr16:36766..872212 [NCBI36]
Chr16:16p13.3		 pathogenic|uncertain significance
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:165500-183438)x1 copy number loss See cases [RCV000138901] Chr16:165500..183438 [GRCh38]
Chr16:215499..233437 [GRCh37]
Chr16:155499..173437 [NCBI36]
Chr16:16p13.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.3(chr16:43722-308914)x3 copy number gain See cases [RCV000141393] Chr16:43722..308914 [GRCh38]
Chr16:93722..358914 [GRCh37]
Chr16:33722..298915 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:59980-1221651)x1 copy number loss See cases [RCV000141384] Chr16:59980..1221651 [GRCh38]
Chr16:109978..1271651 [GRCh37]
Chr16:49978..1211652 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:165236-182113)x1 copy number loss See cases [RCV000143251] Chr16:165236..182113 [GRCh38]
Chr16:215235..232112 [GRCh37]
Chr16:155235..172112 [NCBI36]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3(chr16:35880-605262)x1 copy number loss See cases [RCV000143709] Chr16:35880..605262 [GRCh38]
Chr16:85880..655262 [GRCh37]
Chr16:25880..595263 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97494-323799)x3 copy number gain Breast ductal adenocarcinoma [RCV000207213] Chr16:97494..323799 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:97494-1257060)x3 copy number gain Breast ductal adenocarcinoma [RCV000207237] Chr16:97494..1257060 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:216724-340009)x3 copy number gain See cases [RCV000240006] Chr16:216724..340009 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 copy number loss See cases [RCV000239415] Chr16:88165..1715454 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 copy number loss See cases [RCV000240294] Chr16:72769..1511716 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:113746-240243)x3 copy number gain See cases [RCV000449423] Chr16:113746..240243 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-754083)x1 copy number loss See cases [RCV000446474] Chr16:85880..754083 [GRCh37]
Chr16:16p13.3		 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 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:106859-735154)x3 copy number gain See cases [RCV000511218] Chr16:106859..735154 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-643107)x1 copy number loss See cases [RCV000510746] Chr16:85880..643107 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005331.5(HBQ1):c.265G>A (p.Ala89Thr) single nucleotide variant Inborn genetic diseases [RCV003300497] Chr16:180835 [GRCh38]
Chr16:230834 [GRCh37]
Chr16:16p13.3		 uncertain significance
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 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 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-546267)x3 copy number gain See cases [RCV000512217] Chr16:85880..546267 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 copy number loss not provided [RCV000683740] Chr16:85880..1498731 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-294656)x1 copy number loss not provided [RCV000683739] Chr16:85880..294656 [GRCh37]
Chr16:16p13.3		 uncertain significance
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 16p13.3(chr16:193586-233272)x3 copy number gain not provided [RCV000738919] Chr16:193586..233272 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:198835-236152)x1 copy number loss not provided [RCV000738921] Chr16:198835..236152 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:213366-236152)x0 copy number loss not provided [RCV000738926] Chr16:213366..236152 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:223543-230817)x1 copy number loss not provided [RCV000738934] Chr16:223543..230817 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:225159-236050)x0 copy number loss not provided [RCV000738936] Chr16:225159..236050 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:227290-231890)x1 copy number loss not provided [RCV000738937] Chr16:227290..231890 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:227693-231890)x1 copy number loss not provided [RCV000738939] Chr16:227693..231890 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:230206-231971)x1 copy number loss not provided [RCV000738940] Chr16:230206..231971 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:230206-233272)x1 copy number loss not provided [RCV000738941] Chr16:230206..233272 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:230320-231890)x1 copy number loss not provided [RCV000738942] Chr16:230320..231890 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 copy number loss not provided [RCV000751445] Chr16:61451..1593645 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:223477-230578)x0 copy number loss not provided [RCV000751458] Chr16:223477..230578 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:223477-230817)x1 copy number loss not provided [RCV000751459] Chr16:223477..230817 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:223477-231167)x1 copy number loss not provided [RCV000751460] Chr16:223477..231167 [GRCh37]
Chr16:16p13.3		 benign
NM_005331.5(HBQ1):c.410T>C (p.Leu137Pro) single nucleotide variant Inborn genetic diseases [RCV003267675] Chr16:181089 [GRCh38]
Chr16:231088 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:216075-231021) copy number loss alpha Thalassemia [RCV000767837] Chr16:216075..231021 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:216742-233272)x0 copy number loss See cases [RCV000790600] Chr16:216742..233272 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-830613)x1 copy number loss not provided [RCV000846660] Chr16:85880..830613 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1468459)x1 copy number loss not provided [RCV000848130] Chr16:85880..1468459 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1166355)x1 copy number loss not provided [RCV001006741] Chr16:85880..1166355 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.(168531_169756)_(182770_183028)del deletion alpha Thalassemia [RCV001078400] Chr16:169756..182770 [GRCh38]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.(169756_170100)_(179044_181595)del deletion alpha Thalassemia [RCV001078401] Chr16:170100..179044 [GRCh38]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:106988-735154)x3 copy number gain not provided [RCV001006742] Chr16:106988..735154 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:205271-589830)x3 copy number gain not provided [RCV001006743] Chr16:205271..589830 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.172001_181401del deletion alpha Thalassemia [RCV001078236] Chr16:172000..181400 [GRCh38]
Chr16:221999..231399 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.171847_181556del deletion alpha Thalassemia [RCV001078235] Chr16:171845..181554 [GRCh38]
Chr16:221844..231553 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:212275-234987)x1 copy number loss not provided [RCV001795836] Chr16:212275..234987 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.151479_182582del deletion alpha Thalassemia [RCV001078405] Chr16:151479..182582 [GRCh38]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-754083) copy number loss not specified [RCV002052499] Chr16:85880..754083 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1468828) copy number loss not specified [RCV002052500] Chr16:85880..1468828 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:106989-293949)x1 copy number loss not provided [RCV002473487] Chr16:106989..293949 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85881-1350186)x1 copy number loss not provided [RCV002474576] Chr16:85881..1350186 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:204932-313258)x3 copy number gain not provided [RCV002475882] Chr16:204932..313258 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005331.5(HBQ1):c.70G>C (p.Val24Leu) single nucleotide variant Inborn genetic diseases [RCV002793423] Chr16:180556 [GRCh38]
Chr16:230555 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005331.5(HBQ1):c.233C>G (p.Pro78Arg) single nucleotide variant Inborn genetic diseases [RCV002793819] Chr16:180803 [GRCh38]
Chr16:230802 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005331.5(HBQ1):c.225C>G (p.Asp75Glu) single nucleotide variant Inborn genetic diseases [RCV002997266] Chr16:180795 [GRCh38]
Chr16:230794 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005331.5(HBQ1):c.47A>G (p.Lys16Arg) single nucleotide variant Inborn genetic diseases [RCV002873202] Chr16:180533 [GRCh38]
Chr16:230532 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005331.5(HBQ1):c.11C>T (p.Ser4Phe) single nucleotide variant Inborn genetic diseases [RCV002960452] Chr16:180497 [GRCh38]
Chr16:230496 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005331.5(HBQ1):c.269G>C (p.Cys90Ser) single nucleotide variant Inborn genetic diseases [RCV002674779] Chr16:180839 [GRCh38]
Chr16:230838 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:215947-231157)x1 copy number loss alpha Thalassemia [RCV003329554] Chr16:215947..231157 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005331.5(HBQ1):c.380A>C (p.Asp127Ala) single nucleotide variant Inborn genetic diseases [RCV003377042] Chr16:181059 [GRCh38]
Chr16:231058 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 copy number loss not provided [RCV003483253] Chr16:85881..1657611 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85881-470832)x1 copy number loss not provided [RCV003483254] Chr16:85881..470832 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:365
Count of miRNA genes:348
Interacting mature miRNAs:365
Transcripts:ENST00000199708
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
ECD16105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716230,293 - 230,746UniSTSGRCh37
Build 3616170,293 - 170,746RGDNCBI36
Celera16429,808 - 430,261RGD
Cytogenetic Map16p13.3UniSTS
HuRef16148,335 - 148,788UniSTS
ECD18394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716231,016 - 231,377UniSTSGRCh37
Build 3616171,016 - 171,377RGDNCBI36
Celera16430,531 - 430,892RGD
Cytogenetic Map16p13.3UniSTS
HuRef16149,058 - 149,419UniSTS
REN94980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716228,491 - 228,727UniSTSGRCh37
Build 3616168,491 - 168,727RGDNCBI36
Celera16428,006 - 428,242RGD
Cytogenetic Map16p13.3UniSTS
HuRef16146,533 - 146,769UniSTS
REN94981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716228,711 - 228,977UniSTSGRCh37
Build 3616168,711 - 168,977RGDNCBI36
Celera16428,226 - 428,492RGD
Cytogenetic Map16p13.3UniSTS
HuRef16146,753 - 147,019UniSTS
REN94982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716229,287 - 229,536UniSTSGRCh37
Build 3616169,287 - 169,536RGDNCBI36
Celera16428,802 - 429,051RGD
Cytogenetic Map16p13.3UniSTS
HuRef16147,329 - 147,578UniSTS
REN94983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716229,518 - 229,780UniSTSGRCh37
Build 3616169,518 - 169,780RGDNCBI36
Celera16429,033 - 429,295RGD
Cytogenetic Map16p13.3UniSTS
HuRef16147,560 - 147,822UniSTS
REN94984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716229,757 - 229,983UniSTSGRCh37
Build 3616169,757 - 169,983RGDNCBI36
Celera16429,272 - 429,498RGD
Cytogenetic Map16p13.3UniSTS
HuRef16147,799 - 148,025UniSTS
REN94985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716229,886 - 230,116UniSTSGRCh37
Build 3616169,886 - 170,116RGDNCBI36
Celera16429,401 - 429,631RGD
Cytogenetic Map16p13.3UniSTS
HuRef16147,928 - 148,158UniSTS
REN94986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716230,056 - 230,312UniSTSGRCh37
Build 3616170,056 - 170,312RGDNCBI36
Celera16429,571 - 429,827RGD
Cytogenetic Map16p13.3UniSTS
HuRef16148,098 - 148,354UniSTS
REN94987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716230,294 - 230,544UniSTSGRCh37
Build 3616170,294 - 170,544RGDNCBI36
Celera16429,809 - 430,059RGD
Cytogenetic Map16p13.3UniSTS
HuRef16148,336 - 148,586UniSTS
REN94988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716230,322 - 230,575UniSTSGRCh37
Build 3616170,322 - 170,575RGDNCBI36
Celera16429,837 - 430,090RGD
Cytogenetic Map16p13.3UniSTS
HuRef16148,364 - 148,617UniSTS
REN94989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716230,550 - 230,807UniSTSGRCh37
Build 3616170,550 - 170,807RGDNCBI36
Celera16430,065 - 430,322RGD
Cytogenetic Map16p13.3UniSTS
HuRef16148,592 - 148,849UniSTS
REN94990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716230,783 - 231,034UniSTSGRCh37
Build 3616170,783 - 171,034RGDNCBI36
Celera16430,298 - 430,549RGD
Cytogenetic Map16p13.3UniSTS
HuRef16148,825 - 149,076UniSTS
REN94991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716230,986 - 231,212UniSTSGRCh37
Build 3616170,986 - 171,212RGDNCBI36
Celera16430,501 - 430,727RGD
Cytogenetic Map16p13.3UniSTS
HuRef16149,028 - 149,254UniSTS
REN94992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716231,141 - 231,379UniSTSGRCh37
Build 3616171,141 - 171,379RGDNCBI36
Celera16430,656 - 430,894RGD
Cytogenetic Map16p13.3UniSTS
HuRef16149,183 - 149,421UniSTS
stSG608927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716228,497 - 229,957UniSTSGRCh37
Build 3616168,497 - 169,957RGDNCBI36
Celera16428,012 - 429,472RGD
HuRef16146,539 - 147,999UniSTS
RH70814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716231,048 - 231,185UniSTSGRCh37
Build 3616171,048 - 171,185RGDNCBI36
Celera16430,563 - 430,700RGD
Cytogenetic Map16p13.3UniSTS
HuRef16149,090 - 149,227UniSTS
GeneMap99-GB4 RH Map1620.45UniSTS


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 adipose tissue appendage entire extraembryonic component
High 477 477
Medium 15 298 27 17 351 17 12 16 272 7 27 90 1 5 7
Low 251 336 465 57 391 55 838 181 2673 77 639 610 5 201 386 4
Below cutoff 1190 1072 748 268 271 195 1991 934 558 180 454 606 77 615 1310

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000199708   ⟹   ENSP00000199708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16180,459 - 181,179 (+)Ensembl
RefSeq Acc Id: NM_005331   ⟹   NP_005322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816180,459 - 181,179 (+)NCBI
GRCh3716230,333 - 231,178 (+)ENTREZGENE
Build 3616170,335 - 171,178 (+)NCBI Archive
Celera16429,850 - 430,693 (+)RGD
HuRef16148,375 - 149,220 (+)ENTREZGENE
CHM1_116230,340 - 231,185 (+)NCBI
T2T-CHM13v2.016174,501 - 175,221 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_005322   ⟸   NM_005331
- UniProtKB: Q13723 (UniProtKB/Swiss-Prot),   Q1W6G5 (UniProtKB/Swiss-Prot),   P09105 (UniProtKB/Swiss-Prot),   A0A1K0GUV5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000199708   ⟸   ENST00000199708
Protein Domains
Globin family profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P09105-F1-model_v2 AlphaFold P09105 1-142 view protein structure

Promoters
RGD ID:6793175
Promoter ID:HG_KWN:22578
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:OTTHUMT00000134226
Position:
Human AssemblyChrPosition (strand)Source
Build 3616170,306 - 170,806 (+)MPROMDB
RGD ID:6849664
Promoter ID:EP26027
Type:initiation region
Name:HS_HBQ1
Description:theta-globin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:fetus, yolk sac, liver, erythroid cells
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 3616170,467 - 170,527EPD
RGD ID:7230735
Promoter ID:EPDNEW_H21113
Type:initiation region
Name:HBQ1_1
Description:hemoglobin subunit theta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816180,459 - 180,519EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4833 AgrOrtholog
COSMIC HBQ1 COSMIC
Ensembl Genes ENSG00000086506 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000199708 ENTREZGENE
  ENST00000199708.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.490.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000086506 GTEx
HGNC ID HGNC:4833 ENTREZGENE
Human Proteome Map HBQ1 Human Proteome Map
InterPro Globin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Globin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Globin/Proto UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haemoglobin_a-typ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haemoglobin_pi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3049 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3049 ENTREZGENE
OMIM 142240 OMIM
PANTHER HEMOGLOBIN FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMOGLOBIN SUBUNIT THETA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Globin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29208 PharmGKB
PRINTS ALPHAHAEM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIHAEM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GLOBIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46458 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1K0GUV5 ENTREZGENE, UniProtKB/TrEMBL
  HBAT_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q13723 ENTREZGENE
  Q1W6G5 ENTREZGENE
UniProt Secondary Q13723 UniProtKB/Swiss-Prot
  Q1W6G5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 HBQ1  hemoglobin subunit theta 1  HBQ1  hemoglobin, theta 1  Symbol and/or name change 5135510 APPROVED