HLX (H2.0 like homeobox) - Rat Genome Database

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Gene: HLX (H2.0 like homeobox) Homo sapiens
Analyze
Symbol: HLX
Name: H2.0 like homeobox
RGD ID: 1323685
HGNC Page HGNC:4978
Description: Enables sequence-specific DNA binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within several processes, including embryonic digestive tract morphogenesis; enteric nervous system development; and regulation of T-helper cell differentiation. Predicted to be located in nucleus. Predicted to be part of chromatin.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: H2.0-like homeo box 1; h2.0-like homeo box 1 (drosophila); H2.0-like homeo box-1; H2.0-like homeobox; H2.0-like homeobox 1; H2.0-like homeobox protein; HB24; HLX1; homeobox protein HB24; homeobox protein HLX1
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
GRCh381220,879,443 - 220,885,059 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1220,879,431 - 220,885,059 (+)EnsemblGRCh38hg38GRCh38
GRCh371221,052,785 - 221,058,401 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361219,119,382 - 219,125,018 (+)NCBINCBI36Build 36hg18NCBI36
Build 341217,441,153 - 217,446,790NCBI
Celera1194,272,144 - 194,277,780 (+)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1191,727,277 - 191,732,908 (+)NCBIHuRef
CHM1_11222,325,244 - 222,330,902 (+)NCBICHM1_1
T2T-CHM13v2.01220,119,233 - 220,124,841 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1283323   PMID:1349016   PMID:1375114   PMID:1672660   PMID:1676597   PMID:1712647   PMID:7680402   PMID:7806220   PMID:8094082   PMID:8095486   PMID:9073066   PMID:9665637  
PMID:12477932   PMID:14702039   PMID:16344560   PMID:16436665   PMID:16902145   PMID:17110450   PMID:17532041   PMID:18029348   PMID:18402755   PMID:19038437   PMID:19274049   PMID:19295429  
PMID:19362357   PMID:19459883   PMID:20008130   PMID:20554918   PMID:21224470   PMID:21516116   PMID:21873635   PMID:22014209   PMID:22303482   PMID:22658674   PMID:22897850   PMID:22989111  
PMID:23243425   PMID:23251661   PMID:23455154   PMID:23888188   PMID:26631039   PMID:27335261   PMID:28514442   PMID:28701693   PMID:28898547   PMID:29212571   PMID:30082823   PMID:30737378  
PMID:31141539   PMID:32296183   PMID:32513696   PMID:33961781  


Genomics

Comparative Map Data
HLX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381220,879,443 - 220,885,059 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1220,879,431 - 220,885,059 (+)EnsemblGRCh38hg38GRCh38
GRCh371221,052,785 - 221,058,401 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361219,119,382 - 219,125,018 (+)NCBINCBI36Build 36hg18NCBI36
Build 341217,441,153 - 217,446,790NCBI
Celera1194,272,144 - 194,277,780 (+)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1191,727,277 - 191,732,908 (+)NCBIHuRef
CHM1_11222,325,244 - 222,330,902 (+)NCBICHM1_1
T2T-CHM13v2.01220,119,233 - 220,124,841 (+)NCBIT2T-CHM13v2.0
Hlx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391184,459,340 - 184,464,690 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1184,459,337 - 184,464,816 (-)EnsemblGRCm39 Ensembl
GRCm381184,727,143 - 184,732,493 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1184,727,140 - 184,732,619 (-)EnsemblGRCm38mm10GRCm38
MGSCv371186,551,022 - 186,556,372 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361186,427,931 - 186,433,396 (-)NCBIMGSCv36mm8
Celera1191,689,162 - 191,694,499 (-)NCBICelera
Cytogenetic Map1H5NCBI
cM Map188.97NCBI
Hlx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81398,811,852 - 98,817,264 (-)NCBIGRCr8
mRatBN7.21396,280,335 - 96,285,750 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1396,280,339 - 96,285,750 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1398,789,496 - 98,794,915 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.013100,185,399 - 100,190,810 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01397,371,712 - 97,377,126 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.013102,637,967 - 102,643,376 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13102,637,769 - 102,643,223 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013107,315,400 - 107,320,809 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413100,685,757 - 100,691,658 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.113100,874,799 - 100,902,762 (-)NCBI
Celera1395,800,154 - 95,805,549 (-)NCBICelera
Cytogenetic Map13q26NCBI
Hlx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555202,936,815 - 2,941,170 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555202,937,131 - 2,941,170 (-)NCBIChiLan1.0ChiLan1.0
HLX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2128,514,751 - 28,520,850 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1128,476,536 - 28,482,651 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01196,465,704 - 196,471,803 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11201,500,470 - 201,506,222 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1201,500,470 - 201,506,222 (+)Ensemblpanpan1.1panPan2
HLX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13815,538,744 - 15,543,686 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3815,539,029 - 15,542,152 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3815,580,303 - 15,585,398 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03815,575,409 - 15,580,508 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3815,575,655 - 15,580,859 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13815,582,466 - 15,587,573 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03815,937,032 - 15,942,341 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03816,230,020 - 16,235,130 (+)NCBIUU_Cfam_GSD_1.0
Hlx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934456,168,597 - 56,175,226 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366501,416,812 - 1,422,588 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366501,416,825 - 1,422,595 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HLX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1010,264,244 - 10,269,879 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11010,263,441 - 10,269,882 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21012,516,070 - 12,519,020 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HLX
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1258,641,386 - 8,647,485 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl258,641,752 - 8,646,563 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660558,920,798 - 8,926,903 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hlx
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248354,223,511 - 4,227,979 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248354,223,252 - 4,227,892 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HLX
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:220673535-223683512)x1 copy number loss See cases [RCV000135795] Chr1:220673535..223683512 [GRCh38]
Chr1:220846877..223871214 [GRCh37]
Chr1:218913500..221937837 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000148255] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
Single allele deletion Loeys-Dietz syndrome 4 [RCV000210452] Chr1:215588712..222145072 [GRCh37]
Chr1:1q41
pathogenic
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1 copy number loss not provided [RCV001005174] Chr1:219734913..224104993 [GRCh37]
Chr1:1q41-42.11
pathogenic
NM_021958.4(HLX):c.958-9G>A single nucleotide variant not provided [RCV000958497] Chr1:220884186 [GRCh38]
Chr1:221057528 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q41(chr1:219379258-222049547)x3 copy number gain not provided [RCV000848714] Chr1:219379258..222049547 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
NM_021958.4(HLX):c.704C>T (p.Ala235Val) single nucleotide variant not provided [RCV000960825] Chr1:220881305 [GRCh38]
Chr1:221054647 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
Single allele deletion Loeys-Dietz syndrome 4 [RCV001837015] Chr1:215199578..223035427 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_021958.4(HLX):c.302C>T (p.Pro101Leu) single nucleotide variant Inborn genetic diseases [RCV003282329] Chr1:220880159 [GRCh38]
Chr1:221053501 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.866A>C (p.Lys289Thr) single nucleotide variant HLX-related condition [RCV003420468]|Inborn genetic diseases [RCV002906467] Chr1:220882257 [GRCh38]
Chr1:221055599 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.1270G>A (p.Gly424Ser) single nucleotide variant Inborn genetic diseases [RCV002841506] Chr1:220884507 [GRCh38]
Chr1:221057849 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.628G>A (p.Gly210Arg) single nucleotide variant Inborn genetic diseases [RCV002864401] Chr1:220881229 [GRCh38]
Chr1:221054571 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association
NM_021958.4(HLX):c.1196G>A (p.Arg399His) single nucleotide variant Inborn genetic diseases [RCV002688525] Chr1:220884433 [GRCh38]
Chr1:221057775 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.292G>C (p.Val98Leu) single nucleotide variant Inborn genetic diseases [RCV002823272] Chr1:220880149 [GRCh38]
Chr1:221053491 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.161T>G (p.Val54Gly) single nucleotide variant Inborn genetic diseases [RCV002707849] Chr1:220880018 [GRCh38]
Chr1:221053360 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.502G>C (p.Ala168Pro) single nucleotide variant Inborn genetic diseases [RCV002874088] Chr1:220880359 [GRCh38]
Chr1:221053701 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.482A>C (p.His161Pro) single nucleotide variant Inborn genetic diseases [RCV002987349] Chr1:220880339 [GRCh38]
Chr1:221053681 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.1325T>A (p.Leu442His) single nucleotide variant Inborn genetic diseases [RCV002804373] Chr1:220884562 [GRCh38]
Chr1:221057904 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.659C>T (p.Ala220Val) single nucleotide variant Inborn genetic diseases [RCV002826073] Chr1:220881260 [GRCh38]
Chr1:221054602 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.151C>T (p.His51Tyr) single nucleotide variant Inborn genetic diseases [RCV002787239] Chr1:220880008 [GRCh38]
Chr1:221053350 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.133T>A (p.Cys45Ser) single nucleotide variant Inborn genetic diseases [RCV002719202] Chr1:220879990 [GRCh38]
Chr1:221053332 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.688A>G (p.Ile230Val) single nucleotide variant Inborn genetic diseases [RCV002670116] Chr1:220881289 [GRCh38]
Chr1:221054631 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.1255A>C (p.Ser419Arg) single nucleotide variant Inborn genetic diseases [RCV002934952] Chr1:220884492 [GRCh38]
Chr1:221057834 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.332G>A (p.Arg111Gln) single nucleotide variant Inborn genetic diseases [RCV003204085] Chr1:220880189 [GRCh38]
Chr1:221053531 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.1349G>T (p.Gly450Val) single nucleotide variant Inborn genetic diseases [RCV003260850] Chr1:220884586 [GRCh38]
Chr1:221057928 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.58G>T (p.Ala20Ser) single nucleotide variant Inborn genetic diseases [RCV003208192] Chr1:220879915 [GRCh38]
Chr1:221053257 [GRCh37]
Chr1:1q41
uncertain significance
NM_021958.4(HLX):c.1399A>G (p.Thr467Ala) single nucleotide variant Inborn genetic diseases [RCV003368840] Chr1:220884636 [GRCh38]
Chr1:221057978 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:214853277-222111742)x1 copy number loss not provided [RCV003484033] Chr1:214853277..222111742 [GRCh37]
Chr1:1q41
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:864
Count of miRNA genes:586
Interacting mature miRNAs:676
Transcripts:ENST00000366903, ENST00000427693, ENST00000549319
Prediction methods: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
GDB:251518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371221,056,577 - 221,056,742UniSTSGRCh37
Build 361219,123,200 - 219,123,365RGDNCBI36
Celera1194,275,964 - 194,276,121RGD
Cytogenetic Map1q41UniSTS
HuRef1191,731,094 - 191,731,249UniSTS
HLX1_2251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371221,057,786 - 221,058,558UniSTSGRCh37
Build 361219,124,409 - 219,125,181RGDNCBI36
Celera1194,277,165 - 194,277,937RGD
HuRef1191,732,293 - 191,733,065UniSTS
SHGC-32821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371221,058,080 - 221,058,182UniSTSGRCh37
Build 361219,124,703 - 219,124,805RGDNCBI36
Celera1194,277,459 - 194,277,561RGD
Cytogenetic Map1q41UniSTS
HuRef1191,732,587 - 191,732,689UniSTS
TNG Radiation Hybrid Map1109668.0UniSTS
GeneMap99-GB4 RH Map1706.33UniSTS
Whitehead-RH Map1874.3UniSTS
NCBI RH Map11926.3UniSTS


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
Medium 1623 1816 841 202 1139 194 2463 929 689 92 446 1174 8 1202 1590 1
Low 709 1163 871 412 303 259 1730 1245 2906 315 956 347 158 2 1198 2
Below cutoff 57 6 6 169 9 148 11 116 6 36 64 4 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_021958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA951303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S56767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S56768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S56769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000366903   ⟹   ENSP00000355870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1220,879,443 - 220,885,059 (+)Ensembl
RefSeq Acc Id: ENST00000427693   ⟹   ENSP00000408248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1220,881,069 - 220,884,493 (+)Ensembl
RefSeq Acc Id: ENST00000549319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1220,879,431 - 220,885,056 (+)Ensembl
RefSeq Acc Id: NM_021958   ⟹   NP_068777
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,879,443 - 220,885,059 (+)NCBI
GRCh371221,052,743 - 221,058,401 (+)ENTREZGENE
Build 361219,119,382 - 219,125,018 (+)NCBI Archive
HuRef1191,727,277 - 191,732,908 (+)ENTREZGENE
CHM1_11222,325,244 - 222,330,902 (+)NCBI
T2T-CHM13v2.01220,119,233 - 220,124,841 (+)NCBI
Sequence:
RefSeq Acc Id: NP_068777   ⟸   NM_021958
- UniProtKB: Q59HE7 (UniProtKB/Swiss-Prot),   Q15988 (UniProtKB/Swiss-Prot),   B2R8A8 (UniProtKB/Swiss-Prot),   Q9NZ75 (UniProtKB/Swiss-Prot),   Q14774 (UniProtKB/Swiss-Prot),   B3KXT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000408248   ⟸   ENST00000427693
RefSeq Acc Id: ENSP00000355870   ⟸   ENST00000366903
Protein Domains
Homeobox

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14774-F1-model_v2 AlphaFold Q14774 1-488 view protein structure

Promoters
RGD ID:6785722
Promoter ID:HG_KWN:7422
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_021958
Position:
Human AssemblyChrPosition (strand)Source
Build 361219,119,131 - 219,120,157 (+)MPROMDB
RGD ID:6859040
Promoter ID:EPDNEW_H2684
Type:initiation region
Name:HLX_1
Description:H2.0 like homeobox
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2685  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,879,443 - 220,879,503EPDNEW
RGD ID:6859042
Promoter ID:EPDNEW_H2685
Type:initiation region
Name:HLX_2
Description:H2.0 like homeobox
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2684  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,879,725 - 220,879,785EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4978 AgrOrtholog
COSMIC HLX COSMIC
Ensembl Genes ENSG00000136630 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000366903 ENTREZGENE
  ENST00000366903.8 UniProtKB/Swiss-Prot
  ENST00000427693.1 UniProtKB/TrEMBL
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136630 GTEx
HGNC ID HGNC:4978 ENTREZGENE
Human Proteome Map HLX Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_metazoa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HTH_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3142 UniProtKB/Swiss-Prot
NCBI Gene 3142 ENTREZGENE
OMIM 142995 OMIM
PANTHER H2.0-LIKE HOMEOBOX PROTEIN UniProtKB/Swiss-Prot
  H2.0-LIKE HOMEOBOX PROTEIN UniProtKB/Swiss-Prot
  H2.0-LIKE HOMEOBOX PROTEIN UniProtKB/TrEMBL
  H2.0-LIKE HOMEOBOX PROTEIN UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162391017 PharmGKB
PRINTS HOMEOBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HTHREPRESSR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R8A8 ENTREZGENE
  B3KXT6 ENTREZGENE, UniProtKB/TrEMBL
  F8VWZ5_HUMAN UniProtKB/TrEMBL
  HLX_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q15988 ENTREZGENE
  Q59HE7 ENTREZGENE
  Q9NZ75 ENTREZGENE
UniProt Secondary B2R8A8 UniProtKB/Swiss-Prot
  Q15988 UniProtKB/Swiss-Prot
  Q59HE7 UniProtKB/Swiss-Prot
  Q9NZ75 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 HLX  H2.0 like homeobox    H2.0-like homeobox  Symbol and/or name change 5135510 APPROVED