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:4877
Description: Enables 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. Located in nucleus. Implicated in septooptic dysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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; Rathke's pouch homeobox; RPX
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38357,197,838 - 57,227,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl357,197,838 - 57,227,606 (-)EnsemblGRCh38hg38GRCh38
GRCh37357,231,866 - 57,261,643 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,207,265 - 57,209,320 (-)NCBINCBI36Build 36hg18NCBI36
Build 34357,207,264 - 57,209,320NCBI
Celera357,197,508 - 57,199,842 (-)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef357,280,999 - 57,283,330 (-)NCBIHuRef
CHM1_1357,182,092 - 57,184,428 (-)NCBICHM1_1
T2T-CHM13v2.0357,238,106 - 57,267,938 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal circulating thyroglobulin concentration  (IAGP)
Abnormal digit morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal prolactin level  (IAGP)
Abnormality of secondary sexual hair  (IAGP)
Abnormality of the eye  (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)
Bradycardia  (IAGP)
Breast hypoplasia  (IAGP)
Cleft palate  (IAGP)
Color vision defect  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Decreased cervical spine mobility  (IAGP)
Decreased circulating ACTH concentration  (IAGP)
Decreased circulating follicle stimulating hormone concentration  (IAGP)
Decreased circulating luteinizing hormone level  (IAGP)
Decreased circulating T4 concentration  (IAGP)
Decreased fertility  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Decreased testicular size  (IAGP)
Decreased thyroid-stimulating hormone level  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed proximal femoral epiphyseal ossification  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (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)
Facial edema  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Gynecomastia  (IAGP)
Hand polydactyly  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Holoprosencephaly  (IAGP)
Hypoglycemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypohidrosis  (IAGP)
Hypopituitarism  (IAGP)
Hypoplasia of penis  (IAGP)
Hyporeflexia  (IAGP)
Hyposmia  (IAGP)
Hypotension  (IAGP)
Hypothalamic gonadotropin-releasing hormone deficiency  (IAGP)
Hypothermia  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Inappropriate antidiuretic hormone secretion  (IAGP)
Infertility  (IAGP)
Intellectual disability  (IAGP)
Large posterior fontanelle  (IAGP)
Lethargy  (IAGP)
Macroglossia  (IAGP)
Maternal autoimmune disease  (IAGP)
Maternal diabetes  (IAGP)
Median cleft palate  (IAGP)
Micropenis  (IAGP)
Midface retrusion  (IAGP)
Muscle weakness  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Optic disc hypoplasia  (IAGP)
Optic nerve hypoplasia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis of vertebrae  (IAGP)
Overweight  (IAGP)
Panhypopituitarism  (IAGP)
Paraplegia  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Pituitary dwarfism  (IAGP)
Pituitary hypothyroidism  (IAGP)
Polydactyly  (IAGP)
Polydipsia  (IAGP)
Primary amenorrhea  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Prominent forehead  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced circulating prolactin concentration  (IAGP)
Reduced radioactive iodine uptake  (IAGP)
Renal agenesis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Septo-optic dysplasia  (IAGP)
Severe global developmental delay  (IAGP)
Short finger  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Sleep abnormality  (IAGP)
Strabismus  (IAGP)
Thyroid hypoplasia  (IAGP)
Tooth agenesis  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tremor  (IAGP)
Umbilical hernia  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Dattani MT, etal., Nat Genet. 1998 Jun;19(2):125-33.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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  
PMID:33961781  


Genomics

Comparative Map Data
HESX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38357,197,838 - 57,227,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl357,197,838 - 57,227,606 (-)EnsemblGRCh38hg38GRCh38
GRCh37357,231,866 - 57,261,643 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,207,265 - 57,209,320 (-)NCBINCBI36Build 36hg18NCBI36
Build 34357,207,264 - 57,209,320NCBI
Celera357,197,508 - 57,199,842 (-)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef357,280,999 - 57,283,330 (-)NCBIHuRef
CHM1_1357,182,092 - 57,184,428 (-)NCBICHM1_1
T2T-CHM13v2.0357,238,106 - 57,267,938 (-)NCBIT2T-CHM13v2.0
Hesx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391426,716,322 - 26,724,286 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1426,716,373 - 26,724,286 (+)EnsemblGRCm39 Ensembl
GRCm381426,994,419 - 27,002,329 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1426,994,416 - 27,002,329 (+)EnsemblGRCm38mm10GRCm38
MGSCv371427,813,548 - 27,815,512 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361425,827,246 - 25,829,210 (+)NCBIMGSCv36mm8
Celera1423,240,571 - 23,242,535 (+)NCBICelera
Cytogenetic Map14A3NCBI
cM Map1416.09NCBI
Hesx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8162,198,589 - 2,200,694 (+)NCBIGRCr8
mRatBN7.2162,191,852 - 2,193,957 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl162,191,852 - 2,193,957 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx162,198,290 - 2,200,403 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0163,343,968 - 3,346,081 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0162,204,885 - 2,206,997 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0162,616,538 - 2,636,708 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl162,634,603 - 2,636,708 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0162,607,470 - 2,609,575 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4162,255,128 - 2,257,233 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2257,177,672 - 57,196,280 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1357,182,366 - 57,201,048 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0357,131,419 - 57,161,205 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1358,341,955 - 58,370,338 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl358,341,965 - 58,370,347 (-)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02033,466,082 - 33,469,492 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2033,467,392 - 33,468,870 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12032,914,836 - 32,918,246 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02033,273,435 - 33,276,845 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02033,445,045 - 33,448,455 (+)NCBIUU_Cfam_GSD_1.0
Hesx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118174,407,622 - 174,433,673 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364737,545,839 - 7,548,013 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12218,517,067 - 18,546,882 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041148,324,605 - 148,352,750 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hesx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462482274,373 - 101,828 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462482274,344 - 102,484 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HESX1
93 total Variants

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]|Septo-optic dysplasia sequence [RCV002512890]|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]|Inborn genetic diseases [RCV002512891]|Septo-optic dysplasia sequence [RCV001147431]|Septo-optic dysplasia sequence [RCV001851729]|not provided [RCV000592959] Chr3:57198214 [GRCh38]
Chr3:57232242 [GRCh37]
Chr3:3p14.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003865.3(HESX1):c.305_306dup (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
NM_003865.3(HESX1):c.525del (p.Asn178fs) deletion Septo-optic dysplasia sequence [RCV000008135] Chr3:57198230 [GRCh38]
Chr3:57232258 [GRCh37]
Chr3:3p14.3		 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]|Septo-optic dysplasia sequence [RCV002512892]|not provided [RCV001753409] Chr3:57199901 [GRCh38]
Chr3:57233929 [GRCh37]
Chr3:3p14.3		 pathogenic|uncertain significance
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 Inborn genetic diseases [RCV002546550]|Septo-optic dysplasia sequence [RCV001332341]|Septo-optic dysplasia sequence [RCV001865751] Chr3:57199795 [GRCh38]
Chr3:57233823 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.511_512del (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_003865.2(HESX1):c.-276T>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 Amenorrhea [RCV001849354]|HESX1-related disorder [RCV003947822]|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		 likely benign|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 provided [RCV001573812]|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]|Septo-optic dysplasia sequence [RCV001850835] Chr3:57198890 [GRCh38]
Chr3:57232918 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.2(HESX1):c.-230T>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_003865.2(HESX1):c.-245delT 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_003865.2(HESX1):c.-203_-200delAATT 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.106_107del (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]|Septo-optic dysplasia sequence [RCV003767318] 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]|not specified [RCV002248803] 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 Male infertility with spermatogenesis disorder [RCV003991580]|Septo-optic dysplasia sequence [RCV001867923]|Septo-optic dysplasia sequence [RCV003388589]|not provided [RCV000597373] Chr3:57198784 [GRCh38]
Chr3:57232812 [GRCh37]
Chr3:3p14.3		 likely pathogenic|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 Septo-optic dysplasia sequence [RCV002542153] 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
NC_000003.11:g.(?_57130421)_(58520833_?)del deletion Pyruvate dehydrogenase E1-beta deficiency [RCV003105375] Chr3:57130421..58520833 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57130421)_(57303715_?)dup duplication Septo-optic dysplasia sequence [RCV003107767] Chr3:57130421..57303715 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.545A>T (p.Asn182Ile) single nucleotide variant Inborn genetic diseases [RCV003240385] Chr3:57198210 [GRCh38]
Chr3:57232238 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.157+106_157+110del microsatellite not provided [RCV001716473] Chr3:57199652..57199656 [GRCh38]
Chr3:57233680..57233684 [GRCh37]
Chr3:3p14.3		 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]|Septo-optic dysplasia sequence [RCV002066371] Chr3:57198927 [GRCh38]
Chr3:57232955 [GRCh37]
Chr3:3p14.3		 benign|uncertain significance
NM_003865.3(HESX1):c.357+1G>A single nucleotide variant not provided [RCV001552059] Chr3:57198752 [GRCh38]
Chr3:57232780 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_003865.3(HESX1):c.157+129T>A single nucleotide variant not provided [RCV001654905] Chr3:57199633 [GRCh38]
Chr3:57233661 [GRCh37]
Chr3:3p14.3		 benign
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.475C>T (p.Arg159Trp) single nucleotide variant Septo-optic dysplasia sequence [RCV002506683]|Septo-optic dysplasia sequence [RCV002573229]|not provided [RCV001574554] Chr3:57198280 [GRCh38]
Chr3:57232308 [GRCh37]
Chr3:3p14.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003865.3(HESX1):c.479G>A (p.Arg160His) single nucleotide variant Inborn genetic diseases [RCV001266552]|Septo-optic dysplasia sequence [RCV003770389]|not provided [RCV002291741] Chr3:57198276 [GRCh38]
Chr3:57232304 [GRCh37]
Chr3:3p14.3		 pathogenic|uncertain significance
NM_003865.3(HESX1):c.137C>T (p.Ala46Val) single nucleotide variant Inborn genetic diseases [RCV002545603]|Septo-optic dysplasia sequence [RCV001349140]|not provided [RCV004692612] 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
NM_003865.3(HESX1):c.33C>T (p.Leu11=) single nucleotide variant Septo-optic dysplasia sequence [RCV001484690] Chr3:57199886 [GRCh38]
Chr3:57233914 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.517C>T (p.Leu173=) single nucleotide variant Septo-optic dysplasia sequence [RCV001493273] Chr3:57198238 [GRCh38]
Chr3:57232266 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.157+140del deletion not provided [RCV001670924] Chr3:57199622 [GRCh38]
Chr3:57233650 [GRCh37]
Chr3:3p14.3		 benign
NM_003865.3(HESX1):c.3G>A (p.Met1Ile) single nucleotide variant Septo-optic dysplasia sequence [RCV001782248]|Septo-optic dysplasia sequence [RCV002541198] Chr3:57199916 [GRCh38]
Chr3:57233944 [GRCh37]
Chr3:3p14.3		 likely pathogenic|uncertain significance
NM_003865.3(HESX1):c.244G>C (p.Glu82Gln) single nucleotide variant not provided [RCV001771041]|not specified [RCV003987899] Chr3:57198866 [GRCh38]
Chr3:57232894 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.398_403delinsTTGGTT (p.Pro133_Ile135delinsLeuGlyPhe) indel not provided [RCV001771503] Chr3:57198447..57198452 [GRCh38]
Chr3:57232475..57232480 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.59C>G (p.Ser20Cys) single nucleotide variant Pituitary hormone deficiency, combined, 1 [RCV001797025] Chr3:57199860 [GRCh38]
Chr3:57233888 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.373_374delinsGG (p.Asn125Gly) indel Septo-optic dysplasia sequence [RCV002023160]|not provided [RCV003234163] Chr3:57198476..57198477 [GRCh38]
Chr3:57232504..57232505 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.405C>G (p.Ile135Met) single nucleotide variant Septo-optic dysplasia sequence [RCV001988531] Chr3:57198445 [GRCh38]
Chr3:57232473 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.460-3T>C single nucleotide variant Inborn genetic diseases [RCV002554272]|Septo-optic dysplasia sequence [RCV001893410] Chr3:57198298 [GRCh38]
Chr3:57232326 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.400G>C (p.Gly134Arg) single nucleotide variant Septo-optic dysplasia sequence [RCV002039705] Chr3:57198450 [GRCh38]
Chr3:57232478 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.11G>A (p.Ser4Asn) single nucleotide variant Septo-optic dysplasia sequence [RCV001891768]|Septo-optic dysplasia sequence [RCV003134208] Chr3:57199908 [GRCh38]
Chr3:57233936 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.34G>A (p.Gly12Arg) single nucleotide variant Septo-optic dysplasia sequence [RCV002038896] Chr3:57199885 [GRCh38]
Chr3:57233913 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.350A>C (p.Gln117Pro) single nucleotide variant Inborn genetic diseases [RCV002557773]|Septo-optic dysplasia sequence [RCV001938667] Chr3:57198760 [GRCh38]
Chr3:57232788 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.163G>A (p.Asp55Asn) single nucleotide variant Septo-optic dysplasia sequence [RCV001976916] Chr3:57198947 [GRCh38]
Chr3:57232975 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.158G>A (p.Gly53Glu) single nucleotide variant Septo-optic dysplasia sequence [RCV001976995] Chr3:57198952 [GRCh38]
Chr3:57232980 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.173del (p.Leu58fs) deletion Septo-optic dysplasia sequence [RCV001906782] Chr3:57198937 [GRCh38]
Chr3:57232965 [GRCh37]
Chr3:3p14.3		 pathogenic|uncertain significance
NM_003865.3(HESX1):c.135G>A (p.Trp45Ter) single nucleotide variant Septo-optic dysplasia sequence [RCV001973376] Chr3:57199784 [GRCh38]
Chr3:57233812 [GRCh37]
Chr3:3p14.3		 pathogenic|uncertain significance
NM_003865.3(HESX1):c.150C>T (p.Ser50=) single nucleotide variant Septo-optic dysplasia sequence [RCV002192786] Chr3:57199769 [GRCh38]
Chr3:57233797 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.316T>G (p.Tyr106Asp) single nucleotide variant Septo-optic dysplasia sequence [RCV003118704] Chr3:57198794 [GRCh38]
Chr3:57232822 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.354C>G (p.Asn118Lys) single nucleotide variant Septo-optic dysplasia sequence [RCV003131125] Chr3:57198756 [GRCh38]
Chr3:57232784 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.309G>C (p.Leu103Phe) single nucleotide variant Inborn genetic diseases [RCV003101665]|Septo-optic dysplasia sequence [RCV002289119]|Septo-optic dysplasia sequence [RCV003774960] Chr3:57198801 [GRCh38]
Chr3:57232829 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter) single nucleotide variant Septo-optic dysplasia sequence [RCV003153172] Chr3:57198761 [GRCh38]
Chr3:57232789 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_003865.3(HESX1):c.501T>G (p.His167Gln) single nucleotide variant not provided [RCV002306225] Chr3:57198254 [GRCh38]
Chr3:57232282 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.47C>T (p.Pro16Leu) single nucleotide variant Septo-optic dysplasia sequence [RCV002904809] Chr3:57199872 [GRCh38]
Chr3:57233900 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.75A>G (p.Arg25=) single nucleotide variant Septo-optic dysplasia sequence [RCV002948079] Chr3:57199844 [GRCh38]
Chr3:57233872 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.459+15T>C single nucleotide variant Septo-optic dysplasia sequence [RCV002842369] Chr3:57198376 [GRCh38]
Chr3:57232404 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.254C>A (p.Ser85Ter) single nucleotide variant Inborn genetic diseases [RCV002864975] Chr3:57198856 [GRCh38]
Chr3:57232884 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_003865.3(HESX1):c.389del (p.Asn130fs) deletion Septo-optic dysplasia sequence [RCV002953019] Chr3:57198461 [GRCh38]
Chr3:57232489 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_003865.3(HESX1):c.358-6dup duplication Septo-optic dysplasia sequence [RCV002953771] Chr3:57198497..57198498 [GRCh38]
Chr3:57232525..57232526 [GRCh37]
Chr3:3p14.3		 benign
NM_003865.3(HESX1):c.318T>C (p.Tyr106=) single nucleotide variant Septo-optic dysplasia sequence [RCV003078713] Chr3:57198792 [GRCh38]
Chr3:57232820 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.332C>T (p.Pro111Leu) single nucleotide variant Septo-optic dysplasia sequence [RCV003035606] Chr3:57198778 [GRCh38]
Chr3:57232806 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.241G>T (p.Glu81Ter) single nucleotide variant Septo-optic dysplasia sequence [RCV003021421] Chr3:57198869 [GRCh38]
Chr3:57232897 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_003865.3(HESX1):c.157+5G>A single nucleotide variant Septo-optic dysplasia sequence [RCV002886459] Chr3:57199757 [GRCh38]
Chr3:57233785 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.460-10T>A single nucleotide variant Septo-optic dysplasia sequence [RCV002620691] Chr3:57198305 [GRCh38]
Chr3:57232333 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.157+19G>T single nucleotide variant Septo-optic dysplasia sequence [RCV003040837] Chr3:57199743 [GRCh38]
Chr3:57233771 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.358-6del deletion Septo-optic dysplasia sequence [RCV002891154] Chr3:57198498 [GRCh38]
Chr3:57232526 [GRCh37]
Chr3:3p14.3		 benign
NM_003865.3(HESX1):c.35G>A (p.Gly12Glu) single nucleotide variant Septo-optic dysplasia sequence [RCV002595092] Chr3:57199884 [GRCh38]
Chr3:57233912 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.305A>T (p.Glu102Val) single nucleotide variant Septo-optic dysplasia sequence [RCV003083658] Chr3:57198805 [GRCh38]
Chr3:57232833 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.335G>C (p.Arg112Thr) single nucleotide variant Septo-optic dysplasia sequence [RCV003056131] Chr3:57198775 [GRCh38]
Chr3:57232803 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.288A>C (p.Arg96Ser) single nucleotide variant Septo-optic dysplasia sequence [RCV003043077] Chr3:57198822 [GRCh38]
Chr3:57232850 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.459+18T>C single nucleotide variant Septo-optic dysplasia sequence [RCV002958721] Chr3:57198373 [GRCh38]
Chr3:57232401 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.105T>C (p.Cys35=) single nucleotide variant Septo-optic dysplasia sequence [RCV002711720] Chr3:57199814 [GRCh38]
Chr3:57233842 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.303A>G (p.Arg101=) single nucleotide variant Septo-optic dysplasia sequence [RCV003056132] Chr3:57198807 [GRCh38]
Chr3:57232835 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.25G>A (p.Ala9Thr) single nucleotide variant Septo-optic dysplasia sequence [RCV002700335] Chr3:57199894 [GRCh38]
Chr3:57233922 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.50C>T (p.Ser17Leu) single nucleotide variant Septo-optic dysplasia sequence [RCV003006460] Chr3:57199869 [GRCh38]
Chr3:57233897 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.219C>T (p.Ser73=) single nucleotide variant Septo-optic dysplasia sequence [RCV002963013] Chr3:57198891 [GRCh38]
Chr3:57232919 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.498C>T (p.Ser166=) single nucleotide variant Septo-optic dysplasia sequence [RCV003088416] Chr3:57198257 [GRCh38]
Chr3:57232285 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.305_306del (p.Glu102fs) microsatellite Septo-optic dysplasia sequence [RCV003073231] Chr3:57198804..57198805 [GRCh38]
Chr3:57232832..57232833 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_003865.3(HESX1):c.68T>C (p.Ile23Thr) single nucleotide variant Septo-optic dysplasia sequence [RCV003071140] Chr3:57199851 [GRCh38]
Chr3:57233879 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.218G>A (p.Ser73Asn) single nucleotide variant Inborn genetic diseases [RCV003192667]|Septo-optic dysplasia sequence [RCV003779668] Chr3:57198892 [GRCh38]
Chr3:57232920 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.99del (p.Asp34fs) deletion not provided [RCV003328966] Chr3:57199820 [GRCh38]
Chr3:57233848 [GRCh37]
Chr3:3p14.3		 pathogenic
GRCh37/hg19 3p14.3(chr3:56258725-57386154)x1 copy number loss not provided [RCV003485388] Chr3:56258725..57386154 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.147C>T (p.Cys49=) single nucleotide variant not provided [RCV003433635] Chr3:57199772 [GRCh38]
Chr3:57233800 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.-7C>A single nucleotide variant HESX1-related disorder [RCV003980956]|not specified [RCV003479823] Chr3:57199925 [GRCh38]
Chr3:57233953 [GRCh37]
Chr3:3p14.3		 likely benign|uncertain significance
NM_003865.3(HESX1):c.316T>A (p.Tyr106Asn) single nucleotide variant Septo-optic dysplasia sequence [RCV003791889] Chr3:57198794 [GRCh38]
Chr3:57232822 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.421_422del (p.Leu141fs) deletion HESX1-related disorder [RCV003402250] Chr3:57198428..57198429 [GRCh38]
Chr3:57232456..57232457 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.102C>T (p.Asp34=) single nucleotide variant Septo-optic dysplasia sequence [RCV003780571] Chr3:57199817 [GRCh38]
Chr3:57233845 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.439C>A (p.Leu147Ile) single nucleotide variant Septo-optic dysplasia sequence [RCV003793089] Chr3:57198411 [GRCh38]
Chr3:57232439 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.131C>T (p.Pro44Leu) single nucleotide variant Septo-optic dysplasia sequence [RCV003781523] Chr3:57199788 [GRCh38]
Chr3:57233816 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.224T>G (p.Val75Gly) single nucleotide variant Septo-optic dysplasia sequence [RCV003813109] Chr3:57198886 [GRCh38]
Chr3:57232914 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.431A>C (p.Lys144Thr) single nucleotide variant Septo-optic dysplasia sequence [RCV003801889] Chr3:57198419 [GRCh38]
Chr3:57232447 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.358-20T>C single nucleotide variant Septo-optic dysplasia sequence [RCV003803096] Chr3:57198512 [GRCh38]
Chr3:57232540 [GRCh37]
Chr3:3p14.3		 likely benign
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
GRCh37/hg19 3p14.3(chr3:57186580-57384870)x1 copy number loss not specified [RCV003986464] Chr3:57186580..57384870 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.*1A>G single nucleotide variant HESX1-related disorder [RCV003974280] Chr3:57198196 [GRCh38]
Chr3:57232224 [GRCh37]
Chr3:3p14.3		 likely benign
NM_003865.3(HESX1):c.152C>T (p.Ser51Leu) single nucleotide variant not specified [RCV003995074] Chr3:57199767 [GRCh38]
Chr3:57233795 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.169A>C (p.Asn57His) single nucleotide variant Inborn genetic diseases [RCV004404361] Chr3:57198941 [GRCh38]
Chr3:57232969 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_003865.3(HESX1):c.395A>G (p.Tyr132Cys) single nucleotide variant Inborn genetic diseases [RCV004630498] Chr3:57198455 [GRCh38]
Chr3:57232483 [GRCh37]
Chr3:3p14.3		 uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human
1331643COPD16_HChronic obstructive pulmonary disease QTL 16 (human)1.07Chronic airflow obstructionpost-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 10034938065175380651Human

Markers in Region
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


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
  XM_047449142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348271 (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
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000295934   ⟹   ENSP00000295934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,197,838 - 57,199,978 (-)Ensembl
Ensembl Acc Id: ENST00000473921   ⟹   ENSP00000418918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,197,916 - 57,199,938 (-)Ensembl
Ensembl Acc Id: ENST00000495160   ⟹   ENSP00000419615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,198,789 - 57,226,521 (-)Ensembl
Ensembl Acc Id: ENST00000647958   ⟹   ENSP00000498190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0357,238,106 - 57,267,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376059   ⟹   NP_001362988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
T2T-CHM13v2.0357,238,106 - 57,267,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376060   ⟹   NP_001362989
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
T2T-CHM13v2.0357,238,106 - 57,267,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376061   ⟹   NP_001362990
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
T2T-CHM13v2.0357,238,106 - 57,267,883 (-)NCBI
Sequence:
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
T2T-CHM13v2.0357,238,106 - 57,240,246 (-)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
T2T-CHM13v2.0357,238,106 - 57,267,883 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005265526   ⟹   XP_005265583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
GRCh37357,231,866 - 57,261,656 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047449142   ⟹   XP_047305098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
RefSeq Acc Id: XM_047449143   ⟹   XP_047305099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,197,838 - 57,227,615 (-)NCBI
RefSeq Acc Id: XM_054348269   ⟹   XP_054204244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,238,106 - 57,267,938 (-)NCBI
RefSeq Acc Id: XM_054348270   ⟹   XP_054204245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,238,106 - 57,267,917 (-)NCBI
RefSeq Acc Id: XM_054348271   ⟹   XP_054204246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,238,106 - 57,267,883 (-)NCBI
RefSeq Acc Id: NP_003856   ⟸   NM_003865
- UniProtKB: Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   Q9UBX0 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265583   ⟸   XM_005265526
- Peptide Label: isoform X1
- UniProtKB: Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   Q9UBX0 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001362988   ⟸   NM_001376059
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362987   ⟸   NM_001376058
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362989   ⟸   NM_001376060
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362990   ⟸   NM_001376061
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000295934   ⟸   ENST00000295934
Ensembl Acc Id: ENSP00000419615   ⟸   ENST00000495160
Ensembl Acc Id: ENSP00000418918   ⟸   ENST00000473921
Ensembl Acc Id: ENSP00000498190   ⟸   ENST00000647958
RefSeq Acc Id: XP_047305099   ⟸   XM_047449143
- Peptide Label: isoform X1
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305098   ⟸   XM_047449142
- Peptide Label: isoform X1
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204244   ⟸   XM_054348269
- Peptide Label: isoform X1
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204245   ⟸   XM_054348270
- Peptide Label: isoform X1
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204246   ⟸   XM_054348271
- Peptide Label: isoform X1
- UniProtKB: Q9UBX0 (UniProtKB/Swiss-Prot),   Q52LC5 (UniProtKB/Swiss-Prot),   Q99667 (UniProtKB/Swiss-Prot),   C9J0A9 (UniProtKB/TrEMBL)
Protein Domains
Homeobox

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UBX0-F1-model_v2 AlphaFold Q9UBX0 1-185 view protein structure

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

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 Transcript ENST00000295934 ENTREZGENE
  ENST00000295934.8 UniProtKB/Swiss-Prot
  ENST00000473921.2 UniProtKB/TrEMBL
  ENST00000495160.2 UniProtKB/TrEMBL
  ENST00000647958 ENTREZGENE
  ENST00000647958.1 UniProtKB/Swiss-Prot
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8820 UniProtKB/Swiss-Prot
NCBI Gene 8820 ENTREZGENE
OMIM 601802 OMIM
PANTHER HOMEOBOX EXPRESSED IN ES CELLS 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46966 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot
PharmGKB PA29255 PharmGKB
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt C9J0A9 ENTREZGENE, UniProtKB/TrEMBL
  HESX1_HUMAN UniProtKB/Swiss-Prot
  J3KR67_HUMAN UniProtKB/TrEMBL
  Q52LC5 ENTREZGENE
  Q99667 ENTREZGENE
  Q9UBX0 ENTREZGENE
UniProt Secondary Q52LC5 UniProtKB/Swiss-Prot
  Q99667 UniProtKB/Swiss-Prot