ERF (ETS2 repressor factor) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ERF (ETS2 repressor factor) Homo sapiens
Analyze
Symbol: ERF
Name: ETS2 repressor factor
RGD ID: 1323738
HGNC Page HGNC:3444
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in craniosynostosis 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CHYTS; CRS4; ETS domain-containing transcription factor ERF; PE-2; PE2
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
GRCh381942,247,569 - 42,255,128 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1942,247,569 - 42,255,128 (-)EnsemblGRCh38hg38GRCh38
GRCh371942,751,721 - 42,759,280 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361947,443,557 - 47,451,149 (-)NCBINCBI36Build 36hg18NCBI36
Build 341947,443,561 - 47,451,113NCBI
Celera1939,552,513 - 39,560,105 (-)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1939,182,130 - 39,189,922 (-)NCBIHuRef
CHM1_11942,753,399 - 42,760,960 (-)NCBICHM1_1
T2T-CHM13v2.01945,066,943 - 45,074,502 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytosol  (IDA,TAS)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IEA)
plasma membrane  (IDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal pulmonary interstitial morphology  (IAGP)
Abnormal sacrum morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Acanthosis nigricans  (IAGP)
Amblyopia  (IAGP)
Anteverted nares  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicoronal synostosis  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Bronchomalacia  (IAGP)
Cerebellar hypoplasia  (IAGP)
Chiari malformation  (IAGP)
Chiari type I malformation  (IAGP)
Childhood onset  (IAGP)
Choanal atresia  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital hypoplastic anemia  (IAGP)
Congenital onset  (IAGP)
Conjunctivitis  (IAGP)
Convex nasal ridge  (IAGP)
Coronal craniosynostosis  (IAGP)
Craniosynostosis  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diaphragmatic eventration  (IAGP)
Diminished ability to concentrate  (IAGP)
Dolichocephaly  (IAGP)
Ectopic posterior pituitary  (IAGP)
Finger hyperphalangy  (IAGP)
Flat occiput  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal obstruction  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hallux valgus  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypotonia  (IAGP)
Increased intracranial pressure  (IAGP)
Infantile onset  (IAGP)
Interstitial emphysema  (IAGP)
Intestinal obstruction  (IAGP)
Iris coloboma  (IAGP)
Lambdoidal craniosynostosis  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Melanocytic nevus  (IAGP)
Metopic synostosis  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Multiple myeloma  (IAGP)
Multiple suture craniosynostosis  (IAGP)
Narrow forehead  (IAGP)
Narrow internal auditory canal  (IAGP)
Narrow palate  (IAGP)
Neonatal onset  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Overfolded helix  (IAGP)
Pansynostosis  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Polyhydramnios  (IAGP)
Primary microcephaly  (IAGP)
Prominent forehead  (IAGP)
Prominent occiput  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Recurrent respiratory infections  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory failure requiring assisted ventilation  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Sagittal craniosynostosis  (IAGP)
Schizophrenia  (IAGP)
Short 2nd finger  (IAGP)
Short columella  (IAGP)
Short middle phalanx of the 2nd finger  (IAGP)
Short middle phalanx of the 5th finger  (IAGP)
Short proximal phalanx of hallux  (IAGP)
Short stature  (IAGP)
Strabismus  (IAGP)
Thick vermilion border  (IAGP)
Third trimester onset  (IAGP)
Tracheomalacia  (IAGP)
Turricephaly  (IAGP)
Ventricular septal defect  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7588608   PMID:9136988   PMID:9192842   PMID:10330152   PMID:11748221   PMID:12062430   PMID:12477932   PMID:12533699   PMID:14611815   PMID:14678752   PMID:14729966   PMID:15057824  
PMID:15489334   PMID:16344560   PMID:16964243   PMID:17081983   PMID:17525531   PMID:17699159   PMID:19274049   PMID:21873635   PMID:22198386   PMID:22990118   PMID:23332764   PMID:23354439  
PMID:26097063   PMID:26186194   PMID:26344095   PMID:26496610   PMID:26598620   PMID:26673895   PMID:26760575   PMID:27173435   PMID:27738187   PMID:28514442   PMID:28515055   PMID:28614298  
PMID:28750683   PMID:29215649   PMID:30758909   PMID:30804502   PMID:31753913   PMID:31980649   PMID:32152128   PMID:32296183   PMID:32370745   PMID:32592542   PMID:32707033   PMID:32986930  
PMID:33961781   PMID:33993607   PMID:34117072   PMID:35016035   PMID:35140242   PMID:35271311   PMID:35761471   PMID:35819319   PMID:35844135   PMID:35944360   PMID:36383412   PMID:37689310  
PMID:38218889   PMID:38297188   PMID:38334954   PMID:38777146   PMID:38824261   PMID:39617063  


Genomics

Comparative Map Data
ERF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381942,247,569 - 42,255,128 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1942,247,569 - 42,255,128 (-)EnsemblGRCh38hg38GRCh38
GRCh371942,751,721 - 42,759,280 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361947,443,557 - 47,451,149 (-)NCBINCBI36Build 36hg18NCBI36
Build 341947,443,561 - 47,451,113NCBI
Celera1939,552,513 - 39,560,105 (-)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1939,182,130 - 39,189,922 (-)NCBIHuRef
CHM1_11942,753,399 - 42,760,960 (-)NCBICHM1_1
T2T-CHM13v2.01945,066,943 - 45,074,502 (-)NCBIT2T-CHM13v2.0
Erf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39724,941,985 - 24,950,522 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl724,941,986 - 24,950,186 (-)EnsemblGRCm39 Ensembl
GRCm38725,242,560 - 25,251,104 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl725,242,561 - 25,250,761 (-)EnsemblGRCm38mm10GRCm38
MGSCv37726,027,579 - 26,035,777 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36724,951,320 - 24,959,425 (-)NCBIMGSCv36mm8
Celera719,858,364 - 19,866,638 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map713.73NCBI
Erf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8189,957,760 - 89,966,213 (-)NCBIGRCr8
mRatBN7.2180,829,935 - 80,838,388 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl180,829,935 - 80,838,388 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx186,222,152 - 86,230,605 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0194,773,296 - 94,781,750 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0187,977,929 - 87,986,382 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0182,112,449 - 82,120,902 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl182,112,449 - 82,120,902 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0183,378,953 - 83,382,937 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4180,518,385 - 80,527,142 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1180,597,483 - 80,605,113 (-)NCBI
Celera175,273,608 - 75,281,418 (-)NCBICelera
Cytogenetic Map1q21NCBI
Erf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955555654,414 - 665,277 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955555654,945 - 661,097 (+)NCBIChiLan1.0ChiLan1.0
ERF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22048,353,012 - 48,360,570 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11950,221,637 - 50,229,198 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01939,135,757 - 39,143,343 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11947,728,192 - 47,735,808 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1947,728,192 - 47,735,808 (-)Ensemblpanpan1.1panPan2
ERF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11112,117,338 - 112,124,464 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1112,117,141 - 112,124,077 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1111,539,322 - 111,550,990 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01112,725,792 - 112,737,462 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1112,729,426 - 112,736,627 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11112,279,998 - 112,291,665 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01111,915,949 - 111,927,016 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01112,842,484 - 112,854,156 (+)NCBIUU_Cfam_GSD_1.0
Erf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934915,908,148 - 15,915,806 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936706255,407 - 263,179 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936706255,479 - 263,154 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl649,678,888 - 49,685,538 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1649,678,858 - 49,686,422 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2645,597,124 - 45,604,058 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ERF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1636,452,604 - 36,460,188 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl636,452,577 - 36,460,122 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607314,696,845 - 14,704,450 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Erf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624907499,883 - 507,629 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624907499,913 - 506,719 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ERF
217 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006494.4(ERF):c.1244C>T (p.Ala415Val) single nucleotide variant TWIST1-related craniosynostosis [RCV000546427]|not provided [RCV001571681] Chr19:42248868 [GRCh38]
Chr19:42753020 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_006494.4(ERF):c.1263G>C (p.Pro421=) single nucleotide variant TWIST1-related craniosynostosis [RCV000558684]|not provided [RCV003222040] Chr19:42248849 [GRCh38]
Chr19:42753001 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1636C>T (p.Arg546Ter) single nucleotide variant Atrial septal defect [RCV000735402]|Inborn genetic diseases [RCV002536539] Chr19:42248476 [GRCh38]
Chr19:42752628 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1104T>C (p.Ser368=) single nucleotide variant TWIST1-related craniosynostosis [RCV000559615]|not provided [RCV001619795] Chr19:42249008 [GRCh38]
Chr19:42753160 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.547C>T (p.Arg183Ter) single nucleotide variant Craniosynostosis 4 [RCV000049336]|Craniosynostosis 4 [RCV000763434]|TWIST1-related craniosynostosis [RCV000534904] Chr19:42249565 [GRCh38]
Chr19:42753717 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.891_892del (p.Gly299fs) deletion Chitayat syndrome [RCV004562233]|Craniosynostosis 4 [RCV000049337]|Craniosynostosis 4 [RCV004795990]|Inborn genetic diseases [RCV001267114]|See cases [RCV001420279]|TWIST1-related craniosynostosis [RCV000794846]|not provided [RCV002281897] Chr19:42249220..42249221 [GRCh38]
Chr19:42753372..42753373 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) single nucleotide variant Craniosynostosis 4 [RCV000049338]|ERF-related disorder [RCV004549479]|TWIST1-related craniosynostosis [RCV001060076]|not provided [RCV000305113] Chr19:42250332 [GRCh38]
Chr19:42754484 [GRCh37]
Chr19:19q13.2		 pathogenic|conflicting interpretations of pathogenicity
NM_006494.4(ERF):c.194G>A (p.Arg65Gln) single nucleotide variant Craniosynostosis 4 [RCV000049339]|TWIST1-related craniosynostosis [RCV003509484]|not provided [RCV003326341] Chr19:42250394 [GRCh38]
Chr19:42754546 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006494.4(ERF):c.1270C>T (p.Gln424Ter) single nucleotide variant Craniosynostosis 4 [RCV000049340] Chr19:42248842 [GRCh38]
Chr19:42752994 [GRCh37]
Chr19:19q13.2		 pathogenic
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2		 pathogenic
GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1 copy number loss See cases [RCV000053975] Chr19:41930894..43141456 [GRCh38]
Chr19:42514712..43645608 [GRCh37]
Chr19:47126886..48337448 [NCBI36]
Chr19:19q13.2-13.31		 pathogenic
NM_006494.4(ERF):c.41G>A (p.Trp14Ter) single nucleotide variant Craniosynostosis 4 [RCV001332776]|ERF-related disorder [RCV005225382] Chr19:42250547 [GRCh38]
Chr19:42754699 [GRCh37]
Chr19:19q13.2		 likely pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
NM_006494.4(ERF):c.1551del (p.Pro518fs) deletion Noonan syndrome [RCV004720411] Chr19:42248561 [GRCh38]
Chr19:42752713 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic|uncertain significance
NM_006494.4(ERF):c.619C>T (p.Arg207Ter) single nucleotide variant Inborn genetic diseases [RCV001265995]|Noonan Syndrome-like developmental disorder [RCV004586794]|TWIST1-related craniosynostosis [RCV000547799]|not provided [RCV003227791] Chr19:42249493 [GRCh38]
Chr19:42753645 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys) single nucleotide variant Chitayat syndrome [RCV000258152]|Inborn genetic diseases [RCV002518789]|not provided [RCV000481720] Chr19:42249934 [GRCh38]
Chr19:42754086 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic|not provided
NM_006494.4(ERF):c.23-2A>G single nucleotide variant Craniosynostosis 4 [RCV000203301] Chr19:42250567 [GRCh38]
Chr19:42754719 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.1A>G (p.Met1Val) single nucleotide variant Craniosynostosis 4 [RCV000203306]|not provided [RCV004719750] Chr19:42254999 [GRCh38]
Chr19:42759151 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.1569del (p.Leu525fs) deletion not provided [RCV000521416] Chr19:42248543 [GRCh38]
Chr19:42752695 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.397_407del (p.Pro133fs) deletion not provided [RCV000728882] Chr19:42249705..42249715 [GRCh38]
Chr19:42753857..42753867 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.840G>A (p.Ser280=) single nucleotide variant ERF-related disorder [RCV004553252]|TWIST1-related craniosynostosis [RCV001519398] Chr19:42249272 [GRCh38]
Chr19:42753424 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_006494.4(ERF):c.1072_1073del (p.Pro358fs) deletion TWIST1-related craniosynostosis [RCV001371425]|not provided [RCV000483897] Chr19:42249039..42249040 [GRCh38]
Chr19:42753191..42753192 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic|uncertain significance
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) deletion Chitayat syndrome [RCV003313081]|Craniosynostosis 4 [RCV001263207]|ERF-related disorder [RCV003317236]|Neurodevelopmental disorder [RCV001374966]|Noonan Syndrome-like developmental disorder [RCV004586731]|TWIST1-related craniosynostosis [RCV001865446]|not provided [RCV000485362] Chr19:42248910..42248911 [GRCh38]
Chr19:42753062..42753063 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic
NM_006494.4(ERF):c.247C>T (p.Arg83Trp) single nucleotide variant Craniosynostosis 4 [RCV003126771]|not provided [RCV001553132]|not specified [RCV000501328] Chr19:42250341 [GRCh38]
Chr19:42754493 [GRCh37]
Chr19:19q13.2		 likely pathogenic|uncertain significance
NM_006494.4(ERF):c.885C>T (p.Ser295=) single nucleotide variant TWIST1-related craniosynostosis [RCV002060114]|not specified [RCV000504381] Chr19:42249227 [GRCh38]
Chr19:42753379 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.733del (p.Leu245fs) deletion TWIST1-related craniosynostosis [RCV000528500] Chr19:42249379 [GRCh38]
Chr19:42753531 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.1104TTC[3] (p.Ser373del) microsatellite TWIST1-related craniosynostosis [RCV000533809]|not provided [RCV001555365] Chr19:42248997..42248999 [GRCh38]
Chr19:42753149..42753151 [GRCh37]
Chr19:19q13.2		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_006494.4(ERF):c.785del (p.Pro262fs) deletion Inborn genetic diseases [RCV000624075] Chr19:42249327 [GRCh38]
Chr19:42753479 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.208C>T (p.Arg70Cys) single nucleotide variant TWIST1-related craniosynostosis [RCV000653726] Chr19:42250380 [GRCh38]
Chr19:42754532 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1243_1245del (p.Ala415del) deletion TWIST1-related craniosynostosis [RCV000653727] Chr19:42248867..42248869 [GRCh38]
Chr19:42753019..42753021 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.405G>A (p.Val135=) single nucleotide variant TWIST1-related craniosynostosis [RCV002060778] Chr19:42249707 [GRCh38]
Chr19:42753859 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.264C>T (p.Tyr88=) single nucleotide variant TWIST1-related craniosynostosis [RCV000653729] Chr19:42249936 [GRCh38]
Chr19:42754088 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer) deletion Craniosynostosis 4 [RCV001254074]|TWIST1-related craniosynostosis [RCV000653728] Chr19:42249545..42249546 [GRCh38]
Chr19:42753697..42753698 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.879del (p.Ser295fs) deletion not provided [RCV000514123] Chr19:42249233 [GRCh38]
Chr19:42753385 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.223C>T (p.Gln75Ter) single nucleotide variant TWIST1-related craniosynostosis [RCV000706049] Chr19:42250365 [GRCh38]
Chr19:42754517 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.-44_22+11del deletion TWIST1-related craniosynostosis [RCV000695296] Chr19:42254967..42255043 [GRCh38]
Chr19:42759119..42759195 [GRCh37]
Chr19:19q13.2		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele duplication Schizophrenia [RCV000754211] Chr19:41608672..44315856 [GRCh38]
Chr19:19q13.2-13.31		 likely pathogenic
NM_006494.4(ERF):c.813G>A (p.Thr271=) single nucleotide variant TWIST1-related craniosynostosis [RCV002544541] Chr19:42249299 [GRCh38]
Chr19:42753451 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.257+8C>T single nucleotide variant TWIST1-related craniosynostosis [RCV000878792] Chr19:42250323 [GRCh38]
Chr19:42754475 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.24G>A (p.Gly8=) single nucleotide variant TWIST1-related craniosynostosis [RCV000878791] Chr19:42250564 [GRCh38]
Chr19:42754716 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.673C>T (p.Leu225=) single nucleotide variant TWIST1-related craniosynostosis [RCV002536802]|not provided [RCV004717726] Chr19:42249439 [GRCh38]
Chr19:42753591 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.276C>T (p.Arg92=) single nucleotide variant not provided [RCV000950566] Chr19:42249924 [GRCh38]
Chr19:42754076 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1046C>T (p.Pro349Leu) single nucleotide variant Inborn genetic diseases [RCV002539079]|TWIST1-related craniosynostosis [RCV000870527] Chr19:42249066 [GRCh38]
Chr19:42753218 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_006494.4(ERF):c.1192G>A (p.Gly398Ser) single nucleotide variant TWIST1-related craniosynostosis [RCV000870883]|not provided [RCV001568871] Chr19:42248920 [GRCh38]
Chr19:42753072 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_006494.4(ERF):c.228G>A (p.Met76Ile) single nucleotide variant Multiple myeloma [RCV000984106]|not provided [RCV004794466] Chr19:42250360 [GRCh38]
Chr19:42754512 [GRCh37]
Chr19:19q13.2		 likely pathogenic|uncertain significance
NM_006494.4(ERF):c.150G>A (p.Gly50=) single nucleotide variant not provided [RCV000898447] Chr19:42250438 [GRCh38]
Chr19:42754590 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.659C>A (p.Pro220His) single nucleotide variant ERF-related disorder [RCV004553399]|TWIST1-related craniosynostosis [RCV000950889] Chr19:42249453 [GRCh38]
Chr19:42753605 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_006494.4(ERF):c.819C>T (p.Thr273=) single nucleotide variant TWIST1-related craniosynostosis [RCV001478598] Chr19:42249293 [GRCh38]
Chr19:42753445 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1262C>T (p.Pro421Leu) single nucleotide variant Inborn genetic diseases [RCV002549607]|TWIST1-related craniosynostosis [RCV000983822] Chr19:42248850 [GRCh38]
Chr19:42753002 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.285C>T (p.His95=) single nucleotide variant not provided [RCV000921819] Chr19:42249915 [GRCh38]
Chr19:42754067 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.450C>T (p.Ser150=) single nucleotide variant TWIST1-related craniosynostosis [RCV000900679] Chr19:42249662 [GRCh38]
Chr19:42753814 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.247C>A (p.Arg83=) single nucleotide variant TWIST1-related craniosynostosis [RCV001441325] Chr19:42250341 [GRCh38]
Chr19:42754493 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1404C>T (p.Pro468=) single nucleotide variant not provided [RCV000901769] Chr19:42248708 [GRCh38]
Chr19:42752860 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1614G>A (p.Thr538=) single nucleotide variant ERF-related disorder [RCV004726722]|TWIST1-related craniosynostosis [RCV000878677] Chr19:42248498 [GRCh38]
Chr19:42752650 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.1318G>A (p.Val440Met) single nucleotide variant not provided [RCV003314097] Chr19:42248794 [GRCh38]
Chr19:42752946 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1565G>C (p.Gly522Ala) single nucleotide variant Inborn genetic diseases [RCV003248628] Chr19:42248547 [GRCh38]
Chr19:42752699 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1527G>C (p.Glu509Asp) single nucleotide variant not provided [RCV000891552] Chr19:42248585 [GRCh38]
Chr19:42752737 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.1300G>A (p.Glu434Lys) single nucleotide variant Craniosynostosis syndrome [RCV000985270] Chr19:42248812 [GRCh38]
Chr19:42752964 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.286A>T (p.Lys96Ter) single nucleotide variant Craniosynostosis 4 [RCV000786998] Chr19:42249914 [GRCh38]
Chr19:42754066 [GRCh37]
Chr19:19q13.2		 likely pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_006494.4(ERF):c.1177del (p.Glu393fs) deletion not provided [RCV001008368] Chr19:42248935 [GRCh38]
Chr19:42753087 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.383T>G (p.Val128Gly) single nucleotide variant Craniosynostosis syndrome [RCV000985266]|Inborn genetic diseases [RCV002538872] Chr19:42249729 [GRCh38]
Chr19:42753881 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1201A>G (p.Lys401Glu) single nucleotide variant TWIST1-related craniosynostosis [RCV001211073] Chr19:42248911 [GRCh38]
Chr19:42753063 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.748G>C (p.Val250Leu) single nucleotide variant TWIST1-related craniosynostosis [RCV001222060] Chr19:42249364 [GRCh38]
Chr19:42753516 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.427del (p.Arg143fs) deletion TWIST1-related craniosynostosis [RCV001238393] Chr19:42249685 [GRCh38]
Chr19:42753837 [GRCh37]
Chr19:19q13.2		 pathogenic
NC_000019.9:g.(?_39904727)_(42931301_?)dup duplication Diamond-Blackfan anemia [RCV003122291]|MEGF8-related Carpenter syndrome [RCV003105286]|Maple syrup urine disease [RCV003105287]|TWIST1-related craniosynostosis [RCV003105285] Chr19:39904727..42931301 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.517_521dup (p.Ala175fs) duplication Craniosynostosis 4 [RCV001564050] Chr19:42249590..42249591 [GRCh38]
Chr19:42753742..42753743 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NC_000019.10:g.42255136C>T single nucleotide variant not provided [RCV001658958] Chr19:42255136 [GRCh38]
Chr19:42759288 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.23-221T>C single nucleotide variant not provided [RCV001659212] Chr19:42250786 [GRCh38]
Chr19:42754938 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.1080C>T (p.Val360=) single nucleotide variant not provided [RCV000896302] Chr19:42249032 [GRCh38]
Chr19:42753184 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.942G>A (p.Leu314=) single nucleotide variant not provided [RCV000954340] Chr19:42249170 [GRCh38]
Chr19:42753322 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.280C>T (p.Leu94=) single nucleotide variant not provided [RCV000897778] Chr19:42249920 [GRCh38]
Chr19:42754072 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1263G>A (p.Pro421=) single nucleotide variant not provided [RCV000895843] Chr19:42248849 [GRCh38]
Chr19:42753001 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1478G>A (p.Arg493His) single nucleotide variant Inborn genetic diseases [RCV003346404]|TWIST1-related craniosynostosis [RCV001239113] Chr19:42248634 [GRCh38]
Chr19:42752786 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.257G>A (p.Arg86His) single nucleotide variant TWIST1-related craniosynostosis [RCV001217172] Chr19:42250331 [GRCh38]
Chr19:42754483 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.328A>G (p.Lys110Glu) single nucleotide variant not provided [RCV002464711] Chr19:42249872 [GRCh38]
Chr19:42754024 [GRCh37]
Chr19:19q13.2		 uncertain significance
NC_000019.10:g.42255478T>A single nucleotide variant not provided [RCV001639626] Chr19:42255478 [GRCh38]
Chr19:42759630 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.23-154A>G single nucleotide variant not provided [RCV001567815] Chr19:42250719 [GRCh38]
Chr19:42754871 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.257+80C>T single nucleotide variant not provided [RCV001611127] Chr19:42250251 [GRCh38]
Chr19:42754403 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.22+2T>G single nucleotide variant Craniosynostosis 4 [RCV001596843] Chr19:42254976 [GRCh38]
Chr19:42759128 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.144G>A (p.Trp48Ter) single nucleotide variant TWIST1-related craniosynostosis [RCV001205291] Chr19:42250444 [GRCh38]
Chr19:42754596 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.532G>C (p.Ala178Pro) single nucleotide variant TWIST1-related craniosynostosis [RCV001061649] Chr19:42249580 [GRCh38]
Chr19:42753732 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1049del (p.Leu350fs) deletion Craniosynostosis 4 [RCV001254631] Chr19:42249063 [GRCh38]
Chr19:42753215 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.1057A>G (p.Met353Val) single nucleotide variant TWIST1-related craniosynostosis [RCV001412573] Chr19:42249055 [GRCh38]
Chr19:42753207 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.697C>T (p.Arg233Ter) single nucleotide variant Craniosynostosis 4 [RCV004762040]|Inborn genetic diseases [RCV001266260]|Noonan Syndrome-like developmental disorder [RCV004587095]|not provided [RCV002254342] Chr19:42249415 [GRCh38]
Chr19:42753567 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.248G>A (p.Arg83Gln) single nucleotide variant Craniosynostosis 4 [RCV004789502]|Inborn genetic diseases [RCV001266171]|See cases [RCV002252352]|TWIST1-related craniosynostosis [RCV005094269] Chr19:42250340 [GRCh38]
Chr19:42754492 [GRCh37]
Chr19:19q13.2		 likely pathogenic|uncertain significance
NM_006494.4(ERF):c.1030C>G (p.Arg344Gly) single nucleotide variant Craniosynostosis 4 [RCV001332775] Chr19:42249082 [GRCh38]
Chr19:42753234 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1 copy number loss Syndromic intellectual disability [RCV001374690] Chr19:41987984..42252574 [GRCh38]
Chr19:19q13.2		 pathogenic
NC_000019.9:g.(?_42759120)_42759196del deletion TWIST1-related craniosynostosis [RCV001382636]   pathogenic
NC_000019.10:g.42032860_42297536del deletion Syndromic craniosynostosis [RCV001374689] Chr19:42032860..42297536 [GRCh38]
Chr19:19q13.2		 pathogenic
GRCh38/hg38 19q13.2(chr19:42198610-42249880)x1 copy number loss Syndromic intellectual disability [RCV001374691] Chr19:42198610..42249880 [GRCh38]
Chr19:19q13.2		 pathogenic
NC_000019.10:g.41952441_42266625del deletion Syndromic craniosynostosis [RCV001374686] Chr19:41952441..42266625 [GRCh38]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.824T>C (p.Leu275Pro) single nucleotide variant Inborn genetic diseases [RCV002547081]|TWIST1-related craniosynostosis [RCV001347560] Chr19:42249288 [GRCh38]
Chr19:42753440 [GRCh37]
Chr19:19q13.2		 likely benign|uncertain significance
NM_006494.4(ERF):c.830A>G (p.Tyr277Cys) single nucleotide variant TWIST1-related craniosynostosis [RCV001370692] Chr19:42249282 [GRCh38]
Chr19:42753434 [GRCh37]
Chr19:19q13.2		 uncertain significance
NC_000019.10:g.42227530_42259211del deletion Macrocephaly [RCV001374688] Chr19:42227530..42259211 [GRCh38]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.157G>A (p.Gly53Arg) single nucleotide variant See cases [RCV001420302] Chr19:42250431 [GRCh38]
Chr19:42754583 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.110T>C (p.Leu37Pro) single nucleotide variant TWIST1-related craniosynostosis [RCV001317285] Chr19:42250478 [GRCh38]
Chr19:42754630 [GRCh37]
Chr19:19q13.2		 likely pathogenic|uncertain significance
NM_006494.4(ERF):c.597G>A (p.Pro199=) single nucleotide variant TWIST1-related craniosynostosis [RCV001441268] Chr19:42249515 [GRCh38]
Chr19:42753667 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.514C>T (p.Leu172Phe) single nucleotide variant TWIST1-related craniosynostosis [RCV001516439] Chr19:42249598 [GRCh38]
Chr19:42753750 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.1230T>C (p.Ala410=) single nucleotide variant TWIST1-related craniosynostosis [RCV001521298]|not provided [RCV001527957] Chr19:42248882 [GRCh38]
Chr19:42248882..42248883 [GRCh38]
Chr19:42753034 [GRCh37]
Chr19:42753034..42753035 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.981C>T (p.Ser327=) single nucleotide variant TWIST1-related craniosynostosis [RCV001521299]|not provided [RCV001692424] Chr19:42249131 [GRCh38]
Chr19:42753283 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.615C>G (p.Arg205=) single nucleotide variant TWIST1-related craniosynostosis [RCV001521300]|not provided [RCV001685407] Chr19:42249497 [GRCh38]
Chr19:42753649 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.1052C>T (p.Pro351Leu) single nucleotide variant TWIST1-related craniosynostosis [RCV001435103] Chr19:42249060 [GRCh38]
Chr19:42753212 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.205G>A (p.Val69Ile) single nucleotide variant not provided [RCV002254428] Chr19:42250383 [GRCh38]
Chr19:42754535 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.64C>T (p.Pro22Ser) single nucleotide variant not provided [RCV001756988] Chr19:42250524 [GRCh38]
Chr19:42754676 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.193C>T (p.Arg65Trp) single nucleotide variant not specified [RCV005238280] Chr19:42250395 [GRCh38]
Chr19:42754547 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.739C>A (p.Pro247Thr) single nucleotide variant not provided [RCV001758857] Chr19:42249373 [GRCh38]
Chr19:42753525 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1326_1327insCA (p.Ile443fs) insertion not provided [RCV001772590] Chr19:42248785..42248786 [GRCh38]
Chr19:42752937..42752938 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.433C>T (p.Pro145Ser) single nucleotide variant not provided [RCV001771137] Chr19:42249679 [GRCh38]
Chr19:42753831 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.94T>C (p.Phe32Leu) single nucleotide variant not provided [RCV001771473] Chr19:42250494 [GRCh38]
Chr19:42754646 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.626C>G (p.Pro209Arg) single nucleotide variant not provided [RCV001771500] Chr19:42249486 [GRCh38]
Chr19:42753638 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.109C>G (p.Leu37Val) single nucleotide variant not provided [RCV001767274] Chr19:42250479 [GRCh38]
Chr19:42754631 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.652C>T (p.Arg218Ter) single nucleotide variant Noonan Syndrome-like developmental disorder [RCV004587206]|TWIST1-related craniosynostosis [RCV001868477]|not provided [RCV001767422] Chr19:42249460 [GRCh38]
Chr19:42753612 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006494.4(ERF):c.523G>A (p.Ala175Thr) single nucleotide variant not provided [RCV001765211] Chr19:42249589 [GRCh38]
Chr19:42753741 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter) single nucleotide variant Craniosynostosis 4 [RCV001814691] Chr19:42249173 [GRCh38]
Chr19:42753325 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.911_913del (p.Ser304del) deletion TWIST1-related craniosynostosis [RCV002022536] Chr19:42249199..42249201 [GRCh38]
Chr19:42753351..42753353 [GRCh37]
Chr19:19q13.2		 pathogenic|uncertain significance
NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs) duplication TWIST1-related craniosynostosis [RCV002024725] Chr19:42248802..42248803 [GRCh38]
Chr19:42752954..42752955 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.1372C>G (p.Arg458Gly) single nucleotide variant Inborn genetic diseases [RCV002555644]|TWIST1-related craniosynostosis [RCV001925268] Chr19:42248740 [GRCh38]
Chr19:42752892 [GRCh37]
Chr19:19q13.2		 uncertain significance
NC_000019.9:g.(?_42703590)_(42778729_?)del deletion TWIST1-related craniosynostosis [RCV001956084] Chr19:42703590..42778729 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.199T>G (p.Trp67Gly) single nucleotide variant TWIST1-related craniosynostosis [RCV002016001] Chr19:42250389 [GRCh38]
Chr19:42754541 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1222G>A (p.Gly408Arg) single nucleotide variant TWIST1-related craniosynostosis [RCV001906409] Chr19:42248890 [GRCh38]
Chr19:42753042 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.71C>G (p.Ser24Ter) single nucleotide variant TWIST1-related craniosynostosis [RCV001950877] Chr19:42250517 [GRCh38]
Chr19:42754669 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.36G>A (p.Pro12=) single nucleotide variant TWIST1-related craniosynostosis [RCV002033522] Chr19:42250552 [GRCh38]
Chr19:42754704 [GRCh37]
Chr19:19q13.2		 likely benign|uncertain significance
NM_006494.4(ERF):c.132C>T (p.Gly44=) single nucleotide variant TWIST1-related craniosynostosis [RCV002127404] Chr19:42250456 [GRCh38]
Chr19:42754608 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.1602C>T (p.Leu534=) single nucleotide variant TWIST1-related craniosynostosis [RCV002152126] Chr19:42248510 [GRCh38]
Chr19:42752662 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1152C>T (p.Leu384=) single nucleotide variant TWIST1-related craniosynostosis [RCV002111806] Chr19:42248960 [GRCh38]
Chr19:42753112 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1461C>T (p.Arg487=) single nucleotide variant TWIST1-related craniosynostosis [RCV002139378] Chr19:42248651 [GRCh38]
Chr19:42752803 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.21A>G (p.Thr7=) single nucleotide variant not provided [RCV004777322] Chr19:42254979 [GRCh38]
Chr19:42759131 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.86T>C (p.Leu29Pro) single nucleotide variant not provided [RCV004784724] Chr19:42250502 [GRCh38]
Chr19:42754654 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.985C>T (p.Arg329Cys) single nucleotide variant not provided [RCV004777514] Chr19:42249127 [GRCh38]
Chr19:42753279 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.501ATCTTC[1] (p.Ser170_Ser171del) microsatellite not provided [RCV003129034] Chr19:42249600..42249605 [GRCh38]
Chr19:42753752..42753757 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.934C>T (p.Arg312Trp) single nucleotide variant Inborn genetic diseases [RCV003254803] Chr19:42249178 [GRCh38]
Chr19:42753330 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1432A>G (p.Met478Val) single nucleotide variant not provided [RCV003235906] Chr19:42248680 [GRCh38]
Chr19:42752832 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.538C>T (p.Arg180Cys) single nucleotide variant not provided [RCV002275427] Chr19:42249574 [GRCh38]
Chr19:42753726 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.398C>T (p.Pro133Leu) single nucleotide variant Craniosynostosis 4 [RCV002266750]|TWIST1-related craniosynostosis [RCV003096049] Chr19:42249714 [GRCh38]
Chr19:42753866 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.226A>G (p.Met76Val) single nucleotide variant Craniosynostosis 4 [RCV002286481] Chr19:42250362 [GRCh38]
Chr19:42754514 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.373+8C>T single nucleotide variant Craniosynostosis 4 [RCV002266670] Chr19:42249819 [GRCh38]
Chr19:42753971 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.479G>A (p.Arg160His) single nucleotide variant Inborn genetic diseases [RCV003258431] Chr19:42249633 [GRCh38]
Chr19:42753785 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1414C>T (p.Pro472Ser) single nucleotide variant Inborn genetic diseases [RCV002729701] Chr19:42248698 [GRCh38]
Chr19:42752850 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1088C>T (p.Ser363Leu) single nucleotide variant Inborn genetic diseases [RCV002882846] Chr19:42249024 [GRCh38]
Chr19:42753176 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.698G>A (p.Arg233Gln) single nucleotide variant Inborn genetic diseases [RCV002752847] Chr19:42249414 [GRCh38]
Chr19:42753566 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.221C>G (p.Pro74Arg) single nucleotide variant Inborn genetic diseases [RCV002732837] Chr19:42250367 [GRCh38]
Chr19:42754519 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.641T>C (p.Leu214Pro) single nucleotide variant not provided [RCV002461670] Chr19:42249471 [GRCh38]
Chr19:42753623 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.961G>A (p.Val321Ile) single nucleotide variant Inborn genetic diseases [RCV002704740] Chr19:42249151 [GRCh38]
Chr19:42753303 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.823C>T (p.Leu275=) single nucleotide variant TWIST1-related craniosynostosis [RCV003081340] Chr19:42249289 [GRCh38]
Chr19:42753441 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.17_22+10dup duplication Inborn genetic diseases [RCV002738347] Chr19:42254967..42254968 [GRCh38]
Chr19:42759119..42759120 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.212A>C (p.Lys71Thr) single nucleotide variant Inborn genetic diseases [RCV002925280] Chr19:42250376 [GRCh38]
Chr19:42754528 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.355A>C (p.Ile119Leu) single nucleotide variant TWIST1-related craniosynostosis [RCV002690888] Chr19:42249845 [GRCh38]
Chr19:42753997 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1643C>T (p.Ser548Phe) single nucleotide variant not provided [RCV002509927] Chr19:42248469 [GRCh38]
Chr19:42752621 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1060G>A (p.Ala354Thr) single nucleotide variant Inborn genetic diseases [RCV002738310] Chr19:42249052 [GRCh38]
Chr19:42753204 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1562C>G (p.Ala521Gly) single nucleotide variant Inborn genetic diseases [RCV002696980] Chr19:42248550 [GRCh38]
Chr19:42752702 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.787C>T (p.Gln263Ter) single nucleotide variant Inborn genetic diseases [RCV002854536]|not provided [RCV004820279] Chr19:42249325 [GRCh38]
Chr19:42753477 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic
NM_006494.4(ERF):c.1021del (p.Gln341fs) deletion TWIST1-related craniosynostosis [RCV003040782] Chr19:42249091 [GRCh38]
Chr19:42753243 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.762C>T (p.Ala254=) single nucleotide variant TWIST1-related craniosynostosis [RCV002852461] Chr19:42249350 [GRCh38]
Chr19:42753502 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1191C>T (p.Ala397=) single nucleotide variant TWIST1-related craniosynostosis [RCV002957731] Chr19:42248921 [GRCh38]
Chr19:42753073 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.272dup (p.Arg92fs) duplication TWIST1-related craniosynostosis [RCV003046928] Chr19:42249927..42249928 [GRCh38]
Chr19:42754079..42754080 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.1288A>G (p.Ile430Val) single nucleotide variant Inborn genetic diseases [RCV002897718] Chr19:42248824 [GRCh38]
Chr19:42752976 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1051C>G (p.Pro351Ala) single nucleotide variant Inborn genetic diseases [RCV002809163] Chr19:42249061 [GRCh38]
Chr19:42753213 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1536G>C (p.Lys512Asn) single nucleotide variant Inborn genetic diseases [RCV002936433] Chr19:42248576 [GRCh38]
Chr19:42752728 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.408G>A (p.Pro136=) single nucleotide variant ERF-related disorder [RCV004548347]|TWIST1-related craniosynostosis [RCV002653228] Chr19:42249704 [GRCh38]
Chr19:42753856 [GRCh37]
Chr19:19q13.2		 benign
NM_006494.4(ERF):c.289A>G (p.Thr97Ala) single nucleotide variant Inborn genetic diseases [RCV002944505] Chr19:42249911 [GRCh38]
Chr19:42754063 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.972C>G (p.Tyr324Ter) single nucleotide variant ERF-related disorder [RCV003155799] Chr19:42249140 [GRCh38]
Chr19:42753292 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.90G>A (p.Trp30Ter) single nucleotide variant Neonatal encephalopathy [RCV003154305] Chr19:42250498 [GRCh38]
Chr19:42754650 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.1029G>C (p.Gln343His) single nucleotide variant not provided [RCV004779777] Chr19:42249083 [GRCh38]
Chr19:42753235 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1613C>T (p.Thr538Met) single nucleotide variant not provided [RCV003328053] Chr19:42248499 [GRCh38]
Chr19:42752651 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.404T>G (p.Val135Gly) single nucleotide variant not provided [RCV004778164] Chr19:42249708 [GRCh38]
Chr19:42753860 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.785C>T (p.Pro262Leu) single nucleotide variant Inborn genetic diseases [RCV003215870] Chr19:42249327 [GRCh38]
Chr19:42753479 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.661C>G (p.Pro221Ala) single nucleotide variant Inborn genetic diseases [RCV003181464] Chr19:42249451 [GRCh38]
Chr19:42753603 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1031G>A (p.Arg344His) single nucleotide variant Inborn genetic diseases [RCV003302680] Chr19:42249081 [GRCh38]
Chr19:42753233 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1417G>A (p.Gly473Arg) single nucleotide variant not provided [RCV003318787] Chr19:42248695 [GRCh38]
Chr19:42752847 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.74G>A (p.Arg25Lys) single nucleotide variant not provided [RCV003332689] Chr19:42250514 [GRCh38]
Chr19:42754666 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.835C>T (p.Pro279Ser) single nucleotide variant not provided [RCV003332604] Chr19:42249277 [GRCh38]
Chr19:42753429 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.596C>T (p.Pro199Leu) single nucleotide variant Inborn genetic diseases [RCV003374991] Chr19:42249516 [GRCh38]
Chr19:42753668 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.709C>T (p.Arg237Trp) single nucleotide variant not provided [RCV003406992] Chr19:42249403 [GRCh38]
Chr19:42753555 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.202G>A (p.Gly68Ser) single nucleotide variant not provided [RCV003443680] Chr19:42250386 [GRCh38]
Chr19:42754538 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.814C>T (p.Pro272Ser) single nucleotide variant not provided [RCV003443616] Chr19:42249298 [GRCh38]
Chr19:42753450 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.145C>T (p.Gln49Ter) single nucleotide variant Craniosynostosis 4 [RCV004819031] Chr19:42250443 [GRCh38]
Chr19:42754595 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.986G>T (p.Arg329Leu) single nucleotide variant not provided [RCV003443983] Chr19:42249126 [GRCh38]
Chr19:42753278 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1444C>T (p.Leu482=) single nucleotide variant not provided [RCV003415261] Chr19:42248668 [GRCh38]
Chr19:42752820 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1442A>G (p.Lys481Arg) single nucleotide variant not provided [RCV003415262] Chr19:42248670 [GRCh38]
Chr19:42752822 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.70T>G (p.Ser24Ala) single nucleotide variant ERF-related disorder [RCV004552416] Chr19:42250518 [GRCh38]
Chr19:42754670 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.700G>A (p.Val234Ile) single nucleotide variant not provided [RCV003441323] Chr19:42249412 [GRCh38]
Chr19:42753564 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1443G>C (p.Lys481Asn) single nucleotide variant not provided [RCV004590615] Chr19:42248669 [GRCh38]
Chr19:42752821 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.281T>C (p.Leu94Pro) single nucleotide variant TWIST1-related craniosynostosis [RCV003509116] Chr19:42249919 [GRCh38]
Chr19:42754071 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.23-9C>T single nucleotide variant TWIST1-related craniosynostosis [RCV003510206] Chr19:42250574 [GRCh38]
Chr19:42754726 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.565T>G (p.Cys189Gly) single nucleotide variant TWIST1-related craniosynostosis [RCV003509339] Chr19:42249547 [GRCh38]
Chr19:42753699 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.234C>T (p.Tyr78=) single nucleotide variant TWIST1-related craniosynostosis [RCV003810952] Chr19:42250354 [GRCh38]
Chr19:42754506 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1143G>T (p.Pro381=) single nucleotide variant TWIST1-related craniosynostosis [RCV003620932] Chr19:42248969 [GRCh38]
Chr19:42753121 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.997_1034del (p.Leu332_His333insTer) deletion TWIST1-related craniosynostosis [RCV003620701] Chr19:42249078..42249115 [GRCh38]
Chr19:42753230..42753267 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.1372C>T (p.Arg458Cys) single nucleotide variant Inborn genetic diseases [RCV004621867]|TWIST1-related craniosynostosis [RCV003619529] Chr19:42248740 [GRCh38]
Chr19:42752892 [GRCh37]
Chr19:19q13.2		 likely benign|uncertain significance
NM_006494.4(ERF):c.1500del (p.Ala501fs) deletion TWIST1-related craniosynostosis [RCV003620717] Chr19:42248612 [GRCh38]
Chr19:42752764 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.477C>A (p.Pro159=) single nucleotide variant TWIST1-related craniosynostosis [RCV003619427] Chr19:42249635 [GRCh38]
Chr19:42753787 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1386A>G (p.Ala462=) single nucleotide variant TWIST1-related craniosynostosis [RCV003619496] Chr19:42248726 [GRCh38]
Chr19:42752878 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.374-16G>A single nucleotide variant TWIST1-related craniosynostosis [RCV003621272] Chr19:42249754 [GRCh38]
Chr19:42753906 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.810G>A (p.Met270Ile) single nucleotide variant TWIST1-related craniosynostosis [RCV003868375] Chr19:42249302 [GRCh38]
Chr19:42753454 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.40T>G (p.Trp14Gly) single nucleotide variant TWIST1-related craniosynostosis [RCV003620994] Chr19:42250548 [GRCh38]
Chr19:42754700 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1266A>G (p.Pro422=) single nucleotide variant not provided [RCV003884988] Chr19:42248846 [GRCh38]
Chr19:42752998 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.615C>T (p.Arg205=) single nucleotide variant ERF-related disorder [RCV004552720] Chr19:42249497 [GRCh38]
Chr19:42753649 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.535C>T (p.Arg179Cys) single nucleotide variant not provided [RCV003884282] Chr19:42249577 [GRCh38]
Chr19:42753729 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.536G>A (p.Arg179His) single nucleotide variant not provided [RCV003884296] Chr19:42249576 [GRCh38]
Chr19:42753728 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1535A>G (p.Lys512Arg) single nucleotide variant ERF-related disorder [RCV004554379] Chr19:42248577 [GRCh38]
Chr19:42752729 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1338G>C (p.Glu446Asp) single nucleotide variant Inborn genetic diseases [RCV004380560] Chr19:42248774 [GRCh38]
Chr19:42752926 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.635C>T (p.Pro212Leu) single nucleotide variant Inborn genetic diseases [RCV004380565] Chr19:42249477 [GRCh38]
Chr19:42753629 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.818C>G (p.Thr273Ser) single nucleotide variant Inborn genetic diseases [RCV004380567] Chr19:42249294 [GRCh38]
Chr19:42753446 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.596C>A (p.Pro199Gln) single nucleotide variant Inborn genetic diseases [RCV004380564] Chr19:42249516 [GRCh38]
Chr19:42753668 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.494G>T (p.Cys165Phe) single nucleotide variant not provided [RCV004590693] Chr19:42249618 [GRCh38]
Chr19:42753770 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1586G>C (p.Arg529Pro) single nucleotide variant Inborn genetic diseases [RCV004380562] Chr19:42248526 [GRCh38]
Chr19:42752678 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1190C>G (p.Ala397Gly) single nucleotide variant Inborn genetic diseases [RCV004380559] Chr19:42248922 [GRCh38]
Chr19:42753074 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1441A>G (p.Lys481Glu) single nucleotide variant Inborn genetic diseases [RCV004380561] Chr19:42248671 [GRCh38]
Chr19:42752823 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.136dup (p.Ile46fs) duplication Noonan Syndrome-like developmental disorder [RCV004587508] Chr19:42250451..42250452 [GRCh38]
Chr19:42754603..42754604 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.935G>A (p.Arg312Gln) single nucleotide variant Inborn genetic diseases [RCV004617951] Chr19:42249177 [GRCh38]
Chr19:42753329 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.301C>T (p.Arg101Trp) single nucleotide variant not provided [RCV004588706] Chr19:42249899 [GRCh38]
Chr19:42754051 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.227T>A (p.Met76Lys) single nucleotide variant Craniosynostosis 4 [RCV004595307] Chr19:42250361 [GRCh38]
Chr19:42754513 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.11del (p.Pro4fs) deletion Noonan Syndrome-like developmental disorder [RCV004587507] Chr19:42254989 [GRCh38]
Chr19:42759141 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.1509del (p.Phe504fs) deletion Noonan Syndrome-like developmental disorder [RCV004587509] Chr19:42248603 [GRCh38]
Chr19:42752755 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.1637G>A (p.Arg546Gln) single nucleotide variant Inborn genetic diseases [RCV004617948] Chr19:42248475 [GRCh38]
Chr19:42752627 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.631C>G (p.Pro211Ala) single nucleotide variant Inborn genetic diseases [RCV004617952] Chr19:42249481 [GRCh38]
Chr19:42753633 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.506C>A (p.Ser169Ter) single nucleotide variant ERF-related disorder [RCV004703011] Chr19:42249606 [GRCh38]
Chr19:42753758 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.84G>C (p.Gln28His) single nucleotide variant not provided [RCV004722177] Chr19:42250504 [GRCh38]
Chr19:42754656 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1165C>T (p.Arg389Trp) single nucleotide variant ERF-related disorder [RCV004736729] Chr19:42248947 [GRCh38]
Chr19:42753099 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.486dup (p.Pro163fs) duplication ERF-related disorder [RCV004737640] Chr19:42249625..42249626 [GRCh38]
Chr19:42753777..42753778 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.1459C>T (p.Arg487Cys) single nucleotide variant not provided [RCV004781151] Chr19:42248653 [GRCh38]
Chr19:42752805 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.118GAG[1] (p.Glu41del) microsatellite not provided [RCV004724136] Chr19:42250465..42250467 [GRCh38]
Chr19:42754617..42754619 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.349C>G (p.Pro117Ala) single nucleotide variant not provided [RCV004727387] Chr19:42249851 [GRCh38]
Chr19:42754003 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.357T>G (p.Ile119Met) single nucleotide variant not provided [RCV004763083]   uncertain significance
NM_006494.4(ERF):c.862C>T (p.Pro288Ser) single nucleotide variant not provided [RCV004769798] Chr19:42249250 [GRCh38]
Chr19:42753402 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1586G>A (p.Arg529Gln) single nucleotide variant Inborn genetic diseases [RCV004982233] Chr19:42248526 [GRCh38]
Chr19:42752678 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1395G>C (p.Lys465Asn) single nucleotide variant Inborn genetic diseases [RCV004982236] Chr19:42248717 [GRCh38]
Chr19:42752869 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1373G>A (p.Arg458His) single nucleotide variant Inborn genetic diseases [RCV004982234] Chr19:42248739 [GRCh38]
Chr19:42752891 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1049T>G (p.Leu350Arg) single nucleotide variant Inborn genetic diseases [RCV004982235] Chr19:42249063 [GRCh38]
Chr19:42753215 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1299C>T (p.Gly433=) single nucleotide variant Inborn genetic diseases [RCV004982237] Chr19:42248813 [GRCh38]
Chr19:42752965 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1403C>T (p.Pro468Leu) single nucleotide variant not provided [RCV005001897] Chr19:42248709 [GRCh38]
Chr19:42752861 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.35C>T (p.Pro12Leu) single nucleotide variant TWIST1-related craniosynostosis [RCV005176164] Chr19:42250553 [GRCh38]
Chr19:42754705 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.165C>A (p.Phe55Leu) single nucleotide variant not provided [RCV005063587] Chr19:42250423 [GRCh38]
Chr19:42754575 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.909C>G (p.Phe303Leu) single nucleotide variant not provided [RCV005065267] Chr19:42249203 [GRCh38]
Chr19:42753355 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.498_500del (p.Ser171del) deletion TWIST1-related craniosynostosis [RCV005157784] Chr19:42249612..42249614 [GRCh38]
Chr19:42753764..42753766 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.902C>T (p.Ser301Phe) single nucleotide variant not provided [RCV005250936] Chr19:42249210 [GRCh38]
Chr19:42753362 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.408G>T (p.Pro136=) single nucleotide variant TWIST1-related craniosynostosis [RCV005179573] Chr19:42249704 [GRCh38]
Chr19:42753856 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.453G>A (p.Glu151=) single nucleotide variant TWIST1-related craniosynostosis [RCV005077385] Chr19:42249659 [GRCh38]
Chr19:42753811 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1335T>C (p.Asp445=) single nucleotide variant TWIST1-related craniosynostosis [RCV005165826] Chr19:42248777 [GRCh38]
Chr19:42752929 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.227T>C (p.Met76Thr) single nucleotide variant TWIST1-related craniosynostosis [RCV005185608] Chr19:42250361 [GRCh38]
Chr19:42754513 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.373+5_373+6delinsCTGTACCCCAGTGGTGGCGGGGGGCCCAGCGGCTCAGGGGGAGGCTCCCACTTCTCCTTCAGCCCTGAGGACATGAAACGGTACCTGCAGGCCCACACCCAA indel TWIST1-related craniosynostosis [RCV005118456] Chr19:42249821..42249822 [GRCh38]
Chr19:42753973..42753974 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1245G>A (p.Ala415=) single nucleotide variant TWIST1-related craniosynostosis [RCV005191392] Chr19:42248867 [GRCh38]
Chr19:42753019 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1611C>A (p.Ala537=) single nucleotide variant TWIST1-related craniosynostosis [RCV005082561] Chr19:42248501 [GRCh38]
Chr19:42752653 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.794C>A (p.Ser265Tyr) single nucleotide variant not provided [RCV005234124] Chr19:42249318 [GRCh38]
Chr19:42753470 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.1143G>A (p.Pro381=) single nucleotide variant TWIST1-related craniosynostosis [RCV005192060] Chr19:42248969 [GRCh38]
Chr19:42753121 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.258-12C>G single nucleotide variant TWIST1-related craniosynostosis [RCV005117515] Chr19:42249954 [GRCh38]
Chr19:42754106 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.137T>C (p.Ile46Thr) single nucleotide variant TWIST1-related craniosynostosis [RCV005195002] Chr19:42250451 [GRCh38]
Chr19:42754603 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.253del (p.Leu85fs) deletion TWIST1-related craniosynostosis [RCV005162152] Chr19:42250335 [GRCh38]
Chr19:42754487 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.856dup (p.Met286fs) duplication TWIST1-related craniosynostosis [RCV005129000] Chr19:42249255..42249256 [GRCh38]
Chr19:42753407..42753408 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_006494.4(ERF):c.1401G>T (p.Glu467Asp) single nucleotide variant Inborn genetic diseases [RCV004617947] Chr19:42248711 [GRCh38]
Chr19:42752863 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_006494.4(ERF):c.158G>C (p.Gly53Ala) single nucleotide variant Craniosynostosis 4 [RCV003991351] Chr19:42250430 [GRCh38]
Chr19:42754582 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_006494.4(ERF):c.399G>A (p.Pro133=) single nucleotide variant ERF-related disorder [RCV004552801] Chr19:42249713 [GRCh38]
Chr19:42753865 [GRCh37]
Chr19:19q13.2		 likely benign
NM_006494.4(ERF):c.1063C>T (p.Pro355Ser) single nucleotide variant Inborn genetic diseases [RCV004617949] Chr19:42249049 [GRCh38]
Chr19:42753201 [GRCh37]
Chr19:19q13.2		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR7-2hsa-miR-7-5pOncomiRDBexternal_infoNANA20978205
MIR7-1hsa-miR-7-5pOncomiRDBexternal_infoNANA20978205

Predicted Target Of
Summary Value
Count of predictions:2724
Count of miRNA genes:803
Interacting mature miRNAs:962
Transcripts:ENST00000222329, ENST00000440177, ENST00000593944, ENST00000595448, ENST00000595941, ENST00000596818, ENST00000598965
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597098839GWAS1194913_Hmonocyte count QTL GWAS1194913 (human)1e-27monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)194224888242248883Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
597083314GWAS1179388_Hmonocyte count QTL GWAS1179388 (human)2e-26monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)194224888242248883Human
597589370GWAS1646230_Hmonocyte count QTL GWAS1646230 (human)3e-23monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)194225219342252194Human
597588539GWAS1645399_Hmonocyte count QTL GWAS1645399 (human)3e-21monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)194224913142249132Human
597610587GWAS1667447_Hmonocyte count QTL GWAS1667447 (human)1e-27monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)194224913142249132Human
597593225GWAS1650085_Hplatelet count QTL GWAS1650085 (human)8e-13platelet quantity (VT:0003179)platelet count (CMO:0000029)194225219342252194Human
597592950GWAS1649810_Hplatelet count QTL GWAS1649810 (human)2e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)194225219342252194Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
597304535GWAS1400609_Hmonocyte count QTL GWAS1400609 (human)2e-18monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)194224888242248883Human
407222426GWAS871402_Hmonocyte count QTL GWAS871402 (human)5e-10monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)194224888242248883Human

Markers in Region
RH79119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,751,749 - 42,751,877UniSTSGRCh37
Build 361947,443,589 - 47,443,717RGDNCBI36
Celera1939,552,545 - 39,552,673RGD
Cytogenetic Map19q13UniSTS
HuRef1939,182,162 - 39,182,290UniSTS
GeneMap99-GB4 RH Map19242.6UniSTS
NCBI RH Map19453.9UniSTS
RH80814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,752,380 - 42,752,626UniSTSGRCh37
Build 361947,444,220 - 47,444,466RGDNCBI36
Celera1939,553,176 - 39,553,422RGD
Cytogenetic Map19q13UniSTS
HuRef1939,182,793 - 39,183,039UniSTS
GeneMap99-GB4 RH Map19239.12UniSTS
ERF__7603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,751,593 - 42,752,411UniSTSGRCh37
Build 361947,443,433 - 47,444,251RGDNCBI36
Celera1939,552,389 - 39,553,207RGD
HuRef1939,182,006 - 39,182,824UniSTS
RH11603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,755,287 - 42,755,510UniSTSGRCh37
Build 361947,447,127 - 47,447,350RGDNCBI36
Celera1939,556,083 - 39,556,306RGD
Cytogenetic Map19q13UniSTS
HuRef1939,185,700 - 39,185,923UniSTS
GeneMap99-GB4 RH Map19239.84UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001312656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA961500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW005463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM905776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB246848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC299706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC371332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC407368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U15655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000222329   ⟹   ENSP00000222329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,247,569 - 42,255,128 (-)Ensembl
Ensembl Acc Id: ENST00000440177   ⟹   ENSP00000388173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,248,157 - 42,254,635 (-)Ensembl
Ensembl Acc Id: ENST00000593944   ⟹   ENSP00000469274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,249,593 - 42,253,899 (-)Ensembl
Ensembl Acc Id: ENST00000595448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,249,528 - 42,250,172 (-)Ensembl
Ensembl Acc Id: ENST00000595941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,250,444 - 42,253,894 (-)Ensembl
Ensembl Acc Id: ENST00000596818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,250,130 - 42,255,107 (-)Ensembl
Ensembl Acc Id: ENST00000598965   ⟹   ENSP00000468962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,249,622 - 42,250,441 (-)Ensembl
Ensembl Acc Id: ENST00000715593   ⟹   ENSP00000520487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,247,569 - 42,255,128 (-)Ensembl
RefSeq Acc Id: NM_001301035   ⟹   NP_001287964
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,247,569 - 42,254,635 (-)NCBI
CHM1_11942,753,395 - 42,760,438 (-)NCBI
T2T-CHM13v2.01945,066,943 - 45,074,009 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308402   ⟹   NP_001295331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,247,569 - 42,253,899 (-)NCBI
CHM1_11942,753,395 - 42,756,400 (-)NCBI
T2T-CHM13v2.01945,066,943 - 45,073,273 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001312656   ⟹   NP_001299585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,247,569 - 42,255,128 (-)NCBI
CHM1_11942,753,395 - 42,760,967 (-)NCBI
T2T-CHM13v2.01945,066,943 - 45,074,502 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006494   ⟹   NP_006485
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,247,569 - 42,255,128 (-)NCBI
GRCh371942,751,717 - 42,759,309 (-)ENTREZGENE
Build 361947,443,557 - 47,451,149 (-)NCBI Archive
HuRef1939,182,130 - 39,189,922 (-)ENTREZGENE
CHM1_11942,753,395 - 42,760,967 (-)NCBI
T2T-CHM13v2.01945,066,943 - 45,074,502 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047438394   ⟹   XP_047294350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,247,569 - 42,253,899 (-)NCBI
RefSeq Acc Id: XM_047438395   ⟹   XP_047294351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,247,569 - 42,253,899 (-)NCBI
RefSeq Acc Id: XM_047438396   ⟹   XP_047294352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,247,569 - 42,255,128 (-)NCBI
RefSeq Acc Id: XM_054320183   ⟹   XP_054176158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01945,066,943 - 45,073,273 (-)NCBI
RefSeq Acc Id: XM_054320184   ⟹   XP_054176159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01945,066,943 - 45,073,273 (-)NCBI
RefSeq Acc Id: XM_054320185   ⟹   XP_054176160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01945,066,943 - 45,070,289 (-)NCBI
RefSeq Acc Id: XM_054320186   ⟹   XP_054176161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01945,066,943 - 45,074,502 (-)NCBI
RefSeq Acc Id: NP_006485   ⟸   NM_006494
- Peptide Label: isoform 1
- UniProtKB: Q59G38 (UniProtKB/Swiss-Prot),   B7Z4R0 (UniProtKB/Swiss-Prot),   B2RAP1 (UniProtKB/Swiss-Prot),   Q9UPI7 (UniProtKB/Swiss-Prot),   P50548 (UniProtKB/Swiss-Prot),   B7Z6N1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287964   ⟸   NM_001301035
- Peptide Label: isoform 2
- UniProtKB: B7Z6N1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001299585   ⟸   NM_001312656
- Peptide Label: isoform 2
- UniProtKB: B7Z6N1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295331   ⟸   NM_001308402
- Peptide Label: isoform 2
- UniProtKB: B7Z6N1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000468962   ⟸   ENST00000598965
Ensembl Acc Id: ENSP00000388173   ⟸   ENST00000440177
Ensembl Acc Id: ENSP00000222329   ⟸   ENST00000222329
Ensembl Acc Id: ENSP00000469274   ⟸   ENST00000593944
RefSeq Acc Id: XP_047294352   ⟸   XM_047438396
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047294351   ⟸   XM_047438395
- Peptide Label: isoform X1
- UniProtKB: B7Z6N1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047294350   ⟸   XM_047438394
- Peptide Label: isoform X1
- UniProtKB: B7Z6N1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054176161   ⟸   XM_054320186
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054176159   ⟸   XM_054320184
- Peptide Label: isoform X1
- UniProtKB: B7Z6N1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054176158   ⟸   XM_054320183
- Peptide Label: isoform X1
- UniProtKB: B7Z6N1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054176160   ⟸   XM_054320185
- Peptide Label: isoform X1
- UniProtKB: B7Z6N1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000520487   ⟸   ENST00000715593
Protein Domains
ETS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P50548-F1-model_v2 AlphaFold P50548 1-548 view protein structure

Promoters
RGD ID:7240163
Promoter ID:EPDNEW_H25828
Type:initiation region
Name:ERF_3
Description:ETS2 repressor factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25829  EPDNEW_H25830  EPDNEW_H25831  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,248,204 - 42,248,264EPDNEW
RGD ID:7240165
Promoter ID:EPDNEW_H25829
Type:initiation region
Name:ERF_4
Description:ETS2 repressor factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25828  EPDNEW_H25830  EPDNEW_H25831  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,249,289 - 42,249,349EPDNEW
RGD ID:7240169
Promoter ID:EPDNEW_H25830
Type:multiple initiation site
Name:ERF_2
Description:ETS2 repressor factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25828  EPDNEW_H25829  EPDNEW_H25831  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,253,899 - 42,253,959EPDNEW
RGD ID:7240171
Promoter ID:EPDNEW_H25831
Type:initiation region
Name:ERF_1
Description:ETS2 repressor factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25828  EPDNEW_H25829  EPDNEW_H25830  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,255,128 - 42,255,188EPDNEW
RGD ID:6795532
Promoter ID:HG_KWN:30078
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002OTD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361947,445,646 - 47,446,146 (-)MPROMDB
RGD ID:6811566
Promoter ID:HG_ACW:41676
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ERFANDGSK3A.FAPR07,   ERFANDGSK3A.OAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361947,449,416 - 47,450,517 (-)MPROMDB
RGD ID:6795531
Promoter ID:HG_KWN:30079
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006494
Position:
Human AssemblyChrPosition (strand)Source
Build 361947,450,816 - 47,451,316 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3444 AgrOrtholog
COSMIC ERF COSMIC
Ensembl Genes ENSG00000105722 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000222329 ENTREZGENE
  ENST00000222329.9 UniProtKB/Swiss-Prot
  ENST00000440177 ENTREZGENE
  ENST00000440177.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000105722 GTEx
HGNC ID HGNC:3444 ENTREZGENE
Human Proteome Map ERF Human Proteome Map
InterPro Ets_dom UniProtKB/Swiss-Prot
  ETS_fam UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
  WH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:2077 UniProtKB/Swiss-Prot
NCBI Gene 2077 ENTREZGENE
OMIM 611888 OMIM
PANTHER PTHR11849 UniProtKB/Swiss-Prot
  PTHR11849:SF31 UniProtKB/Swiss-Prot
Pfam Ets UniProtKB/Swiss-Prot
PharmGKB PA27857 PharmGKB
PRINTS ETSDOMAIN UniProtKB/Swiss-Prot
PROSITE ETS_DOMAIN_1 UniProtKB/Swiss-Prot
  ETS_DOMAIN_2 UniProtKB/Swiss-Prot
  ETS_DOMAIN_3 UniProtKB/Swiss-Prot
SMART ETS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot
UniProt A0AAQ5BII5_HUMAN UniProtKB/TrEMBL
  B2RAP1 ENTREZGENE
  B7Z4R0 ENTREZGENE
  B7Z6N1 ENTREZGENE, UniProtKB/TrEMBL
  ERF_HUMAN UniProtKB/Swiss-Prot
  M0QX79_HUMAN UniProtKB/TrEMBL
  M0QXN0_HUMAN UniProtKB/TrEMBL
  P50548 ENTREZGENE
  Q59G38 ENTREZGENE
  Q9UPI7 ENTREZGENE
UniProt Secondary B2RAP1 UniProtKB/Swiss-Prot
  B7Z4R0 UniProtKB/Swiss-Prot
  Q59G38 UniProtKB/Swiss-Prot
  Q9UPI7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 ERF  ETS2 repressor factor  ERF  Ets2 repressor factor  Symbol and/or name change 5135510 APPROVED