HESX1 (HESX homeobox 1) - Rat Genome Database

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Gene: HESX1 (HESX homeobox 1) Homo sapiens
Analyze
Symbol: HESX1
Name: HESX homeobox 1
RGD ID: 1353119
HGNC Page HGNC
Description: Exhibits DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and pituitary gland development. Localizes to nucleus. Implicated in septooptic dysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ANF; CPHD5; hAnf; homeo box (expressed in es cells) 1; homeobox expressed in ES cells 1; homeobox protein ANF; homeobox, ES cell expressed 1; MGC138294; Rathke pouch homeobox; RPX
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
GRCh38.p13 Ensembl357,197,838 - 57,227,606 (-)EnsemblGRCh38hg38GRCh38
GRCh38357,197,838 - 57,227,643 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37357,231,866 - 57,261,643 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,207,265 - 57,209,320 (-)NCBINCBI36hg18NCBI36
Build 34357,207,264 - 57,209,320NCBI
Celera357,197,508 - 57,199,842 (-)NCBI
Cytogenetic Map3p14.3NCBI
HuRef357,280,999 - 57,283,330 (-)NCBIHuRef
CHM1_1357,182,092 - 57,184,428 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
nucleus  (IBA,IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal prolactin level  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of secondary sexual hair  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the voice  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Absent septum pellucidum  (IAGP)
Adrenal hypoplasia  (IAGP)
Agenesis of corpus callosum  (IAGP)
Amenorrhea  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anterior pituitary agenesis  (IAGP)
Anterior pituitary hypoplasia  (IAGP)
Aplasia/Hypoplasia of the breasts  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Ataxia  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bimanual synkinesia  (IAGP)
Breast hypoplasia  (IAGP)
Central hypothyroidism  (IAGP)
Cleft palate  (IAGP)
Coarse facial features  (IAGP)
Color vision defect  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Decreased cervical spine mobility  (IAGP)
Decreased circulating ACTH level  (IAGP)
Decreased fertility  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal ridge  (IAGP)
Diabetes insipidus  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dyspareunia  (IAGP)
Ectopic anterior pituitary gland  (IAGP)
Ectopic posterior pituitary  (IAGP)
Erectile dysfunction  (IAGP)
Esophageal atresia  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Gynecomastia  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Holoprosencephaly  (IAGP)
Hypoglycemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of penis  (IAGP)
Hyposmia  (IAGP)
Hypotension  (IAGP)
Hypothalamic gonadotropin-releasing hormone deficiency  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Infertility  (IAGP)
Intellectual disability  (IAGP)
Jaundice  (IAGP)
Large fontanelles  (IAGP)
Maternal diabetes  (IAGP)
Median cleft lip and palate  (IAGP)
Micropenis  (IAGP)
Muscle weakness  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Optic disc hypoplasia  (IAGP)
Optic nerve hypoplasia  (IAGP)
Oral cleft  (IAGP)
Osteopenia  (IAGP)
Osteoporosis of vertebrae  (IAGP)
Paraplegia  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Pituitary dwarfism  (IAGP)
Pituitary hypothyroidism  (IAGP)
Polydactyly  (IAGP)
Polydipsia  (IAGP)
Primary amenorrhea  (IAGP)
Psychomotor retardation  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced number of teeth  (IAGP)
Renal agenesis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Septo-optic dysplasia  (IAGP)
Severe global developmental delay  (IAGP)
Short finger  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Sleep disturbance  (IAGP)
Strabismus  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tremor  (IAGP)
Umbilical hernia  (IAGP)
Visual impairment  (IAGP)
References

Additional References at PubMed
PMID:7876132   PMID:8696006   PMID:9373136   PMID:9751061   PMID:11136712   PMID:11283314   PMID:11731482   PMID:11748154   PMID:12063185   PMID:12424431   PMID:12477932   PMID:12519827  
PMID:14557462   PMID:14561704   PMID:14646405   PMID:14714741   PMID:15489334   PMID:16424673   PMID:16940453   PMID:17148560   PMID:17587179   PMID:17931718   PMID:18728160   PMID:19274049  
PMID:19561080   PMID:20181723   PMID:20211142   PMID:20301552   PMID:20534763   PMID:20694410   PMID:20949537   PMID:21270112   PMID:21325470   PMID:21761366   PMID:21873635   PMID:23199197  
PMID:23455924   PMID:23465708   PMID:25500790   PMID:25814554   PMID:26111865   PMID:26781211   PMID:27000987   PMID:28473536   PMID:28514442   PMID:28734020   PMID:32296183   PMID:33451138  


Genomics

Comparative Map Data
HESX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl357,197,838 - 57,227,606 (-)EnsemblGRCh38hg38GRCh38
GRCh38357,197,838 - 57,227,643 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37357,231,866 - 57,261,643 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,207,265 - 57,209,320 (-)NCBINCBI36hg18NCBI36
Build 34357,207,264 - 57,209,320NCBI
Celera357,197,508 - 57,199,842 (-)NCBI
Cytogenetic Map3p14.3NCBI
HuRef357,280,999 - 57,283,330 (-)NCBIHuRef
CHM1_1357,182,092 - 57,184,428 (-)NCBICHM1_1
Hesx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391426,716,375 - 26,724,286 (+)NCBIGRCm39mm39
GRCm39 Ensembl1426,716,373 - 26,724,286 (+)Ensembl
GRCm381426,994,419 - 27,002,329 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1426,994,416 - 27,002,329 (+)EnsemblGRCm38mm10GRCm38
MGSCv371427,813,548 - 27,815,512 (+)NCBIGRCm37mm9NCBIm37
MGSCv361425,827,246 - 25,829,210 (+)NCBImm8
Celera1423,240,571 - 23,242,535 (+)NCBICelera
Cytogenetic Map14A3NCBI
Hesx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2162,191,852 - 2,193,957 (+)NCBI
Rnor_6.0 Ensembl162,634,603 - 2,636,708 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0162,616,538 - 2,636,708 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0162,607,470 - 2,609,575 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4162,255,128 - 2,257,233 (+)NCBIRGSC3.4rn4RGSC3.4
Celera162,158,634 - 2,160,728 (+)NCBICelera
Cytogenetic Map16p16NCBI
Hesx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554306,955,575 - 6,956,991 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554306,955,575 - 6,956,991 (-)NCBIChiLan1.0ChiLan1.0
HESX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1358,341,955 - 58,370,338 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl358,341,965 - 58,370,347 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0357,131,419 - 57,161,205 (-)NCBIMhudiblu_PPA_v0panPan3
HESX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12033,193,813 - 33,197,226 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2033,195,123 - 33,196,601 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2033,121,173 - 33,124,583 (+)NCBI
ROS_Cfam_1.02033,466,082 - 33,469,492 (+)NCBI
UMICH_Zoey_3.12032,914,836 - 32,918,246 (+)NCBI
UNSW_CanFamBas_1.02033,273,435 - 33,276,845 (+)NCBI
UU_Cfam_GSD_1.02033,445,045 - 33,448,455 (+)NCBI
Hesx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118174,407,622 - 174,433,673 (-)NCBI
SpeTri2.0NW_0049364737,545,982 - 7,572,222 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HESX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1339,046,465 - 39,088,875 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11339,046,961 - 39,088,926 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HESX1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12218,517,067 - 18,546,882 (-)NCBI
Vero_WHO_p1.0NW_023666041148,324,605 - 148,352,750 (+)NCBI
Hesx1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462482274,344 - 102,484 (+)NCBI

Position Markers
RH48343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,232,055 - 57,232,189UniSTSGRCh37
Build 36357,207,095 - 57,207,229RGDNCBI36
Celera357,197,619 - 57,197,753RGD
Cytogenetic Map3p14.3UniSTS
HuRef357,281,110 - 57,281,244UniSTS
GeneMap99-GB4 RH Map3191.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:240
Count of miRNA genes:162
Interacting mature miRNAs:170
Transcripts:ENST00000295934, ENST00000473921, ENST00000495160
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.


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 2 35 158 1 4 162 6
Low 2114 1617 1667 576 1134 424 3598 1263 3420 395 1247 1558 160 1120 2232 4
Below cutoff 312 1152 55 46 570 40 587 917 287 22 39 44 10 84 544 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF059734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI652412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000295934   ⟹   ENSP00000295934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,197,838 - 57,199,978 (-)Ensembl
RefSeq Acc Id: ENST00000473921   ⟹   ENSP00000418918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,197,916 - 57,199,938 (-)Ensembl
RefSeq Acc Id: ENST00000495160   ⟹   ENSP00000419615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,198,789 - 57,226,521 (-)Ensembl
RefSeq Acc Id: ENST00000647958   ⟹   ENSP00000498190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,197,838 - 57,227,606 (-)Ensembl
RefSeq Acc Id: NM_001376058   ⟹   NP_001362987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
RefSeq Acc Id: NM_001376059   ⟹   NP_001362988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
RefSeq Acc Id: NM_001376060   ⟹   NP_001362989
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
RefSeq Acc Id: NM_001376061   ⟹   NP_001362990
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
RefSeq Acc Id: NM_003865   ⟹   NP_003856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,199,978 (-)NCBI
GRCh37357,231,866 - 57,261,656 (-)NCBI
Build 36357,207,265 - 57,209,320 (-)NCBI Archive
HuRef357,280,999 - 57,283,330 (-)ENTREZGENE
CHM1_1357,182,092 - 57,184,428 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164757
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
RefSeq Acc Id: XM_005265526   ⟹   XP_005265583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,643 (-)NCBI
GRCh37357,231,866 - 57,261,656 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003856   ⟸   NM_003865
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   A0A024R364 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265583   ⟸   XM_005265526
- Peptide Label: isoform X1
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   A0A024R364 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001362988   ⟸   NM_001376059
RefSeq Acc Id: NP_001362987   ⟸   NM_001376058
RefSeq Acc Id: NP_001362989   ⟸   NM_001376060
RefSeq Acc Id: NP_001362990   ⟸   NM_001376061
RefSeq Acc Id: ENSP00000295934   ⟸   ENST00000295934
RefSeq Acc Id: ENSP00000419615   ⟸   ENST00000495160
RefSeq Acc Id: ENSP00000418918   ⟸   ENST00000473921
RefSeq Acc Id: ENSP00000498190   ⟸   ENST00000647958
Protein Domains
Homeobox

Promoters
RGD ID:6864786
Promoter ID:EPDNEW_H5558
Type:initiation region
Name:HESX1_2
Description:HESX homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5559  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,199,978 - 57,200,038EPDNEW
RGD ID:6864788
Promoter ID:EPDNEW_H5559
Type:initiation region
Name:HESX1_1
Description:HESX homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5558  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,227,606 - 57,227,666EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003865.3(HESX1):c.478C>T (p.Arg160Cys) single nucleotide variant Septo-optic dysplasia sequence [RCV000008130] Chr3:57198277 [GRCh38]
Chr3:57232305 [GRCh37]
Chr3:3p14.3
pathogenic
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) single nucleotide variant Septooptic dysplasia, mild [RCV000008131]|not provided [RCV000729620] Chr3:57198246 [GRCh38]
Chr3:57232274 [GRCh37]
Chr3:3p14.3
pathogenic|uncertain significance
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) single nucleotide variant Growth hormone deficiency with pituitary anomalies [RCV000008132]|Septo-optic dysplasia sequence [RCV001147431]|not provided [RCV000592959] Chr3:57198214 [GRCh38]
Chr3:57232242 [GRCh37]
Chr3:3p14.3
pathogenic|uncertain significance
NM_003865.3(HESX1):c.301_302AG[4] (p.Leu103fs) microsatellite Septo-optic dysplasia sequence [RCV000008133] Chr3:57198803..57198804 [GRCh38]
Chr3:57232831..57232832 [GRCh37]
Chr3:3p14.3
pathogenic
NM_003865.3(HESX1):c.77T>C (p.Ile26Thr) single nucleotide variant Pituitary hormone deficiency, combined 5 [RCV000008134] Chr3:57199842 [GRCh38]
Chr3:57233870 [GRCh37]
Chr3:3p14.3
pathogenic
HESX1, 1-BP DEL, 1684G deletion Septo-optic dysplasia sequence [RCV000008135] Chr3:3p21.2-p21.1 pathogenic
NM_003865.3(HESX1):c.450_451del (p.Asp150fs) deletion Pituitary hormone deficiency, combined 5 [RCV000008136] Chr3:57198399..57198400 [GRCh38]
Chr3:57232427..57232428 [GRCh37]
Chr3:3p14.3
pathogenic
NM_003865.3(HESX1):c.357+2T>C single nucleotide variant Pituitary hormone deficiency, combined 5 [RCV000008137] Chr3:57198751 [GRCh38]
Chr3:57232779 [GRCh37]
Chr3:3p14.3
pathogenic
NM_003865.3(HESX1):c.445G>A (p.Glu149Lys) single nucleotide variant Growth hormone deficiency with pituitary anomalies [RCV000008138] Chr3:57198405 [GRCh38]
Chr3:57232433 [GRCh37]
Chr3:3p14.3
pathogenic
NM_003865.3(HESX1):c.18G>C (p.Gln6His) single nucleotide variant Pituitary hormone deficiency, combined 5 [RCV000008139] Chr3:57199901 [GRCh38]
Chr3:57233929 [GRCh37]
Chr3:3p14.3
pathogenic
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1
pathogenic
NM_003865.3(HESX1):c.124C>T (p.His42Tyr) single nucleotide variant Septo-optic dysplasia sequence [RCV001332341] Chr3:57199795 [GRCh38]
Chr3:57233823 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_003865.3(HESX1):c.509_510CA[1] (p.Gln171fs) microsatellite not provided [RCV000178201]|not specified [RCV000825935] Chr3:57198243..57198244 [GRCh38]
Chr3:57232271..57232272 [GRCh37]
Chr3:3p14.3
pathogenic|uncertain significance
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1
pathogenic
NM_003865.3(HESX1):c.525G>A (p.Ala175=) single nucleotide variant Septo-optic dysplasia sequence [RCV001087290]|Septo-optic dysplasia sequence [RCV001147432]|not provided [RCV000724721]|not specified [RCV000203047] Chr3:57198230 [GRCh38]
Chr3:57232258 [GRCh37]
Chr3:3p14.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001376058.1(HESX1):c.-110-166T>G single nucleotide variant Combined Pituitary Hormone Deficiency, Dominant/Recessive [RCV000263151]|Septo-optic dysplasia sequence [RCV000298744] Chr3:57200194 [GRCh38]
Chr3:57234222 [GRCh37]
Chr3:3p14.3
conflicting interpretations of pathogenicity|uncertain significance
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) single nucleotide variant Pituitary hormone deficiency, combined, 1 [RCV000583982]|Septo-optic dysplasia sequence [RCV000258196]|Septo-optic dysplasia sequence [RCV001317207]|not provided [RCV000584901] Chr3:57198465 [GRCh38]
Chr3:57232493 [GRCh37]
Chr3:3p14.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2
pathogenic
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) single nucleotide variant Combined Pituitary Hormone Deficiency, Dominant/Recessive [RCV000385780]|Septo-optic dysplasia sequence [RCV000349887]|Septo-optic dysplasia sequence [RCV000538449]|not specified [RCV000331830] Chr3:57198476 [GRCh38]
Chr3:57232504 [GRCh37]
Chr3:3p14.3
benign|likely benign
NM_003865.3(HESX1):c.220G>A (p.Val74Met) single nucleotide variant Combined Pituitary Hormone Deficiency, Dominant/Recessive [RCV000290957]|Septo-optic dysplasia sequence [RCV000346460] Chr3:57198890 [GRCh38]
Chr3:57232918 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_001376058.1(HESX1):c.-110-120T>A single nucleotide variant Combined Pituitary Hormone Deficiency, Dominant/Recessive [RCV000394503]|Septo-optic dysplasia sequence [RCV000342901] Chr3:57200148 [GRCh38]
Chr3:57234176 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_003865.3(HESX1):c.200G>C (p.Ser67Thr) single nucleotide variant Septo-optic dysplasia sequence [RCV001316330]|not provided [RCV000405558] Chr3:57198910 [GRCh38]
Chr3:57232938 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_001376058.1(HESX1):c.-110-135del deletion Combined Pituitary Hormone Deficiency, Dominant/Recessive [RCV000302998]|Septo-optic dysplasia sequence [RCV000357899] Chr3:57200163 [GRCh38]
Chr3:57234191 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_003865.3(HESX1):c.*192T>A single nucleotide variant Combined Pituitary Hormone Deficiency, Dominant/Recessive [RCV000294938]|Septo-optic dysplasia sequence [RCV000389168] Chr3:57198005 [GRCh38]
Chr3:57232033 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_001376058.1(HESX1):c.-110-91_-110-88del deletion Combined Pituitary Hormone Deficiency, Dominant/Recessive [RCV000306699]|Septo-optic dysplasia sequence [RCV000394501] Chr3:57200116..57200119 [GRCh38]
Chr3:57234144..57234147 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_003865.3(HESX1):c.240del (p.Glu81fs) deletion Pituitary hormone deficiency, combined, 1 [RCV000583488]|Septo-optic dysplasia sequence [RCV000582234] Chr3:57198870 [GRCh38]
Chr3:57232898 [GRCh37]
Chr3:3p14.3
pathogenic
NM_003865.3(HESX1):c.104_105GT[1] (p.Val36fs) microsatellite not provided [RCV000599117] Chr3:57199812..57199813 [GRCh38]
Chr3:57233840..57233841 [GRCh37]
Chr3:3p14.3
likely pathogenic
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter) single nucleotide variant Pituitary hormone deficiency, combined, 1 [RCV000582144]|Septo-optic dysplasia sequence [RCV000581553]|not provided [RCV000627251] Chr3:57198802 [GRCh38]
Chr3:57232830 [GRCh37]
Chr3:3p14.3
pathogenic|likely pathogenic
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn) single nucleotide variant Pituitary hormone deficiency, combined, 1 [RCV000584570]|Septo-optic dysplasia sequence [RCV000583330] Chr3:57198910 [GRCh38]
Chr3:57232938 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) single nucleotide variant Pituitary hormone deficiency, combined, 1 [RCV000581469]|Septo-optic dysplasia sequence [RCV000583407]|Septo-optic dysplasia sequence [RCV001298588] Chr3:57198797 [GRCh38]
Chr3:57232825 [GRCh37]
Chr3:3p14.3
pathogenic|uncertain significance
NM_003865.3(HESX1):c.90C>T (p.Asp30=) single nucleotide variant Septo-optic dysplasia sequence [RCV000946031]|not specified [RCV000733977] Chr3:57199829 [GRCh38]
Chr3:57233857 [GRCh37]
Chr3:3p14.3
benign|likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln) single nucleotide variant not provided [RCV000597373] Chr3:57198784 [GRCh38]
Chr3:57232812 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_003865.3(HESX1):c.158-1G>C single nucleotide variant Septo-optic dysplasia sequence [RCV000646790] Chr3:57198953 [GRCh38]
Chr3:57232981 [GRCh37]
Chr3:3p14.3
likely pathogenic
NM_003865.3(HESX1):c.254C>T (p.Ser85Leu) single nucleotide variant not provided [RCV000513417] Chr3:57198856 [GRCh38]
Chr3:57232884 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_003865.3(HESX1):c.-6G>A single nucleotide variant Septo-optic dysplasia sequence [RCV001148356] Chr3:57199924 [GRCh38]
Chr3:57233952 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_003865.3(HESX1):c.255G>A (p.Ser85=) single nucleotide variant not provided [RCV000917676] Chr3:57198855 [GRCh38]
Chr3:57232883 [GRCh37]
Chr3:3p14.3
likely benign
NM_003865.3(HESX1):c.171C>T (p.Asn57=) single nucleotide variant not provided [RCV000895378] Chr3:57198939 [GRCh38]
Chr3:57232967 [GRCh37]
Chr3:3p14.3
likely benign
NM_003865.3(HESX1):c.*48G>A single nucleotide variant Septo-optic dysplasia sequence [RCV001147430] Chr3:57198149 [GRCh38]
Chr3:57232177 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1 copy number loss not provided [RCV000846379] Chr3:57076136..65716956 [GRCh37]
Chr3:3p14.3-14.1
pathogenic
NM_003865.3(HESX1):c.460-7A>G single nucleotide variant Septo-optic dysplasia sequence [RCV000987281] Chr3:57198302 [GRCh38]
Chr3:57232330 [GRCh37]
Chr3:3p14.3
likely benign
NM_003865.3(HESX1):c.358-5C>T single nucleotide variant not provided [RCV000955318] Chr3:57198497 [GRCh38]
Chr3:57232525 [GRCh37]
Chr3:3p14.3
likely benign
NM_003865.3(HESX1):c.183T>C (p.His61=) single nucleotide variant Septo-optic dysplasia sequence [RCV001148355]|not provided [RCV000960662] Chr3:57198927 [GRCh38]
Chr3:57232955 [GRCh37]
Chr3:3p14.3
benign|uncertain significance
NM_003865.3(HESX1):c.325C>T (p.Arg109Ter) single nucleotide variant not provided [RCV001091096] Chr3:57198785 [GRCh38]
Chr3:57232813 [GRCh37]
Chr3:3p14.3
pathogenic
NM_003865.3(HESX1):c.479G>A (p.Arg160His) single nucleotide variant Inborn genetic diseases [RCV001266552] Chr3:57198276 [GRCh38]
Chr3:57232304 [GRCh37]
Chr3:3p14.3
pathogenic
NM_003865.3(HESX1):c.137C>T (p.Ala46Val) single nucleotide variant Septo-optic dysplasia sequence [RCV001349140] Chr3:57199782 [GRCh38]
Chr3:57233810 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_003865.3(HESX1):c.163G>T (p.Asp55Tyr) single nucleotide variant Septo-optic dysplasia sequence [RCV001323893] Chr3:57198947 [GRCh38]
Chr3:57232975 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_003865.3(HESX1):c.450C>G (p.Asp150Glu) single nucleotide variant Septo-optic dysplasia sequence [RCV001269030] Chr3:57198400 [GRCh38]
Chr3:57232428 [GRCh37]
Chr3:3p14.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4877 AgrOrtholog
COSMIC HESX1 COSMIC
Ensembl Genes ENSG00000163666 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000295934 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418918 UniProtKB/TrEMBL
  ENSP00000419615 UniProtKB/TrEMBL
  ENSP00000498190 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000295934 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000473921 UniProtKB/TrEMBL
  ENST00000495160 UniProtKB/TrEMBL
  ENST00000647958 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000163666 GTEx
HGNC ID HGNC:4877 ENTREZGENE
Human Proteome Map HESX1 Human Proteome Map
InterPro Hesx1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8820 ENTREZGENE
OMIM 182230 OMIM
  601802 OMIM
PANTHER PTHR46966 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29255 PharmGKB
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 A0A024R364 ENTREZGENE
  A1LQR0_HUMAN UniProtKB/TrEMBL
  C9J0A9_HUMAN UniProtKB/TrEMBL
  HESX1_HUMAN UniProtKB/Swiss-Prot
  J3KR67_HUMAN UniProtKB/TrEMBL
  Q9UBX0 ENTREZGENE
UniProt Secondary Q52LC5 UniProtKB/Swiss-Prot
  Q99667 UniProtKB/Swiss-Prot