GFER (growth factor, augmenter of liver regeneration) - Rat Genome Database

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Gene: GFER (growth factor, augmenter of liver regeneration) Homo sapiens
Analyze
Symbol: GFER
Name: growth factor, augmenter of liver regeneration
RGD ID: 736290
HGNC Page HGNC:4236
Description: Enables flavin adenine dinucleotide binding activity and protein-disulfide reductase activity. Predicted to be involved in liver development. Located in cytosol and mitochondrion. Implicated in kidney failure and renal fibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALR; ERV1; ERV1 homolog; erv1-like growth factor; FAD-linked sulfhydryl oxidase ALR; growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae); growth factor, erv1 -like; hepatic regenerative stimulation substance; hepatopoietin protein; HERV1; HPO; HPO1; HPO2; HSS; MMCHD; MPMCD; truncated augmenter of liver regeneration
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
GRCh38161,984,193 - 1,987,749 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,984,193 - 1,987,749 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,034,194 - 2,037,750 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,974,151 - 1,977,751 (+)NCBINCBI36Build 36hg18NCBI36
Build 34161,974,150 - 1,977,749NCBI
Celera162,246,329 - 2,249,928 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,958,203 - 1,961,803 (+)NCBIHuRef
CHM1_1162,034,076 - 2,037,676 (+)NCBICHM1_1
T2T-CHM13v2.0162,004,138 - 2,007,694 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. Augmenter of liver regeneration ameliorates renal fibrosis in rats with obstructive nephropathy. Chen GT, etal., Biosci Rep. 2014 Sep 5;34(5). pii: BSR20140038. doi: 10.1042/BSR20140038.
2. [Expression of augmenter of liver regeneration in cryptorchidism spermatogenic cells and its implication]. Chen X, etal., Zhonghua Nan Ke Xue. 2007 Aug;13(8):700-5.
3. Transient GFER knockdown in vivo impairs liver regeneration after partial hepatectomy. Francavilla A, etal., Int J Biochem Cell Biol. 2014 Aug;53:343-51. doi: 10.1016/j.biocel.2014.05.029. Epub 2014 May 28.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Augmenter of liver regeneration may be a candidate for prognosis of HBV related acute-on-chronic liver failure as a regenerative marker. Hongbo S, etal., Hepatogastroenterology. 2012 Sep;59(118):1933-8. doi: 10.5754/hge11679.
6. Correlation between augmenter of liver regeneration and IFN-gamma expression in graft after rat orthotopic liver transplantation. Liang S, etal., J Surg Res. 2012 Dec;178(2):968-73. doi: 10.1016/j.jss.2012.06.032. Epub 2012 Jul 5.
7. Augmenter of liver regeneration protects kidneys from ischaemia/reperfusion injury in rats. Liao XH, etal., Nephrol Dial Transplant. 2010 Sep;25(9):2921-9. doi: 10.1093/ndt/gfq151. Epub 2010 Mar 23.
8. Expression of augmenter of liver regeneration in rats with gentamicin-induced acute renal failure and its protective effect on kidney. Liao XH, etal., Ren Fail. 2009;31(10):946-55. doi: 10.3109/08860220903216154.
9. Augmentor of liver regeneration ameliorates renal tubular epithelial cell injury after rat liver transplantation. Long FW, etal., Transplant Proc. 2008 Oct;40(8):2696-9. doi: 10.1016/j.transproceed.2008.08.015.
10. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
11. The MIA pathway: a key regulator of mitochondrial oxidative protein folding and biogenesis. Mordas A and Tokatlidis K, Acc Chem Res. 2015 Aug 18;48(8):2191-9. doi: 10.1021/acs.accounts.5b00150. Epub 2015 Jul 27.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Augmenter of liver regeneration (ALR) gene therapy attenuates CCl(4)-induced liver injury and fibrosis in rats. Song M, etal., Biochem Biophys Res Commun. 2011 Nov 11;415(1):152-6. doi: 10.1016/j.bbrc.2011.10.039. Epub 2011 Oct 18.
17. Augmenter of liver regeneration (ALR) is a novel biomarker of hepatocellular stress/inflammation: in vitro, in vivo and in silico studies. Vodovotz Y, etal., Mol Med. 2013 Jan 22;18:1421-9. doi: 10.2119/molmed.2012.00183.
18. Augmenter of liver regeneration improves therapeutic effect of hepatocyte homotransplantation in acute liver failure rats. Wang N, etal., Int Immunopharmacol. 2013 Feb;15(2):325-32. doi: 10.1016/j.intimp.2013.01.002. Epub 2013 Jan 19.
19. Effect of naked eukaryotic expression plasmid encoding rat augmenter of liver regeneration on acute hepatic injury and hepatic failure in rats. Zhang LM, etal., World J Gastroenterol. 2005 Jun 28;11(24):3680-5.
Additional References at PubMed
PMID:1552903   PMID:3568764   PMID:6843662   PMID:8076931   PMID:8575761   PMID:8900538   PMID:9813496   PMID:10206950   PMID:10384986   PMID:10982794   PMID:11709497   PMID:11819575  
PMID:11879572   PMID:11925624   PMID:12180965   PMID:12477932   PMID:12681483   PMID:12681488   PMID:14500725   PMID:15304329   PMID:15489334   PMID:15894171   PMID:15982324   PMID:16169070  
PMID:16677602   PMID:16865786   PMID:16937489   PMID:17336303   PMID:18029348   PMID:18272248   PMID:18513187   PMID:19335987   PMID:19397338   PMID:19409522   PMID:19616613   PMID:19629817  
PMID:20066738   PMID:20382118   PMID:20393596   PMID:20593814   PMID:20690902   PMID:20816831   PMID:20877624   PMID:21152698   PMID:21383138   PMID:21636978   PMID:21873635   PMID:21988832  
PMID:22224850   PMID:22476097   PMID:22863717   PMID:22948913   PMID:23207295   PMID:23597483   PMID:23676665   PMID:23810409   PMID:23887691   PMID:23916837   PMID:24147449   PMID:24225952  
PMID:24284796   PMID:25269795   PMID:25416956   PMID:25467756   PMID:25467757   PMID:25476204   PMID:25476205   PMID:25476206   PMID:25487919   PMID:25491506   PMID:25633409   PMID:25778301  
PMID:25929436   PMID:25954098   PMID:26104008   PMID:26186194   PMID:26241672   PMID:26271971   PMID:26344197   PMID:26972000   PMID:27907036   PMID:28114269   PMID:28155230   PMID:28169360  
PMID:28183853   PMID:28380382   PMID:28466106   PMID:28506765   PMID:28514442   PMID:28548934   PMID:28646508   PMID:28704337   PMID:28815883   PMID:28825695   PMID:28947795   PMID:28964625  
PMID:28982981   PMID:29048676   PMID:29568061   PMID:30033366   PMID:30232004   PMID:30259216   PMID:30500391   PMID:31155927   PMID:31166951   PMID:31180521   PMID:31754973   PMID:31822044  
PMID:32031683   PMID:32353859   PMID:33060197   PMID:33110216   PMID:33729478   PMID:33835027   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34800366   PMID:34845387   PMID:35352250  
PMID:35563538   PMID:35831314   PMID:36181326   PMID:36217030   PMID:37666068  


Genomics

Comparative Map Data
GFER
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,984,193 - 1,987,749 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,984,193 - 1,987,749 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,034,194 - 2,037,750 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,974,151 - 1,977,751 (+)NCBINCBI36Build 36hg18NCBI36
Build 34161,974,150 - 1,977,749NCBI
Celera162,246,329 - 2,249,928 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,958,203 - 1,961,803 (+)NCBIHuRef
CHM1_1162,034,076 - 2,037,676 (+)NCBICHM1_1
T2T-CHM13v2.0162,004,138 - 2,007,694 (+)NCBIT2T-CHM13v2.0
Gfer
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391724,912,164 - 24,915,065 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1724,912,161 - 24,915,503 (-)EnsemblGRCm39 Ensembl
GRCm381724,693,190 - 24,696,156 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,693,187 - 24,696,156 (-)EnsemblGRCm38mm10GRCm38
MGSCv371724,830,136 - 24,833,101 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,420,790 - 24,423,748 (-)NCBIMGSCv36mm8
Celera1725,216,107 - 25,219,071 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.48NCBI
Gfer
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,223,023 - 14,225,736 (-)NCBIGRCr8
mRatBN7.21013,718,489 - 13,721,782 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1013,718,489 - 13,720,869 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1018,465,172 - 18,467,528 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01017,954,025 - 17,956,381 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01013,453,227 - 13,455,583 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01014,059,347 - 14,061,703 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1014,059,347 - 14,061,703 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01013,876,328 - 13,878,685 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41013,946,311 - 13,948,665 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11013,946,310 - 13,948,665 (-)NCBI
Celera1013,398,231 - 13,400,587 (-)NCBICelera
Cytogenetic Map10q12NCBI
Gfer
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,281,419 - 15,283,266 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,280,753 - 15,283,405 (-)NCBIChiLan1.0ChiLan1.0
GFER
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2182,359,690 - 2,363,217 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1166,141,337 - 6,144,864 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v016716,640 - 720,196 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1162,073,064 - 2,076,592 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl162,073,064 - 2,076,592 (+)Ensemblpanpan1.1panPan2
GFER
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1638,948,927 - 38,951,300 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl638,949,484 - 38,951,703 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,188,617 - 40,190,946 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,265,945 - 39,268,274 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl639,266,502 - 39,268,893 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1638,942,725 - 38,945,054 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0638,915,028 - 38,917,357 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,393,915 - 39,396,244 (-)NCBIUU_Cfam_GSD_1.0
Gfer
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,655,651 - 104,658,098 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366942,051,325 - 2,053,818 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366942,051,362 - 2,053,812 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GFER
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl339,981,940 - 39,984,991 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1339,981,938 - 39,984,451 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2342,197,274 - 42,199,315 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GFER
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,880,025 - 1,886,829 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl51,879,968 - 1,883,696 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606829,184,259 - 29,187,914 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gfer
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624913273,705 - 275,693 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624913273,126 - 276,353 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GFER
131 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005262.3(GFER):c.581G>A (p.Arg194His) single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV000009228]|Inborn genetic diseases [RCV000624237]|not provided [RCV000199876] Chr16:1985991 [GRCh38]
Chr16:2035992 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3 copy number gain See cases [RCV000052377] Chr16:1816283..2020966 [GRCh38]
Chr16:1866284..2070967 [GRCh37]
Chr16:1806285..2010968 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.269A>G (p.Lys90Arg) single nucleotide variant not provided [RCV002514672]|not specified [RCV000125221] Chr16:1984757 [GRCh38]
Chr16:2034758 [GRCh37]
Chr16:16p13.3		 benign|likely benign
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3 copy number gain See cases [RCV000135695] Chr16:1850978..2116369 [GRCh38]
Chr16:1900979..2166370 [GRCh37]
Chr16:1840980..2106371 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
NM_005262.3(GFER):c.199del (p.Arg67fs) deletion Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV001270124]|Mitochondrial disease [RCV000508880]|not provided [RCV000200750] Chr16:1984415 [GRCh38]
Chr16:2034416 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005262.3(GFER):c.514C>A (p.His172Asn) single nucleotide variant not specified [RCV000197739] Chr16:1985924 [GRCh38]
Chr16:2035925 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.189G>C (p.Glu63Asp) single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV003619661]|GFER-related disorder [RCV003937733]|Inborn genetic diseases [RCV002517217]|not provided [RCV000676336] Chr16:1984407 [GRCh38]
Chr16:2034408 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005262.3(GFER):c.245G>A (p.Arg82Gln) single nucleotide variant not provided [RCV000198190] Chr16:1984463 [GRCh38]
Chr16:2034464 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.550C>A (p.Pro184Thr) single nucleotide variant Inborn genetic diseases [RCV004629164]|not provided [RCV000198653] Chr16:1985960 [GRCh38]
Chr16:2035961 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005262.3(GFER):c.270G>C (p.Lys90Asn) single nucleotide variant not specified [RCV000195835] Chr16:1984758 [GRCh38]
Chr16:2034759 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.14G>C (p.Gly5Ala) single nucleotide variant not provided [RCV002515403]|not specified [RCV000199610] Chr16:1984232 [GRCh38]
Chr16:2034233 [GRCh37]
Chr16:16p13.3		 likely pathogenic|likely benign|uncertain significance
NM_005262.3(GFER):c.57G>C (p.Pro19=) single nucleotide variant not provided [RCV000907861]|not specified [RCV000196063] Chr16:1984275 [GRCh38]
Chr16:2034276 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.454A>G (p.Arg152Gly) single nucleotide variant not provided [RCV000196104] Chr16:1984942 [GRCh38]
Chr16:2034943 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.373C>T (p.Gln125Ter) single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV001254645]|not provided [RCV000199819] Chr16:1984861 [GRCh38]
Chr16:2034862 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.592G>A (p.Gly198Ser) single nucleotide variant Inborn genetic diseases [RCV002517218]|not provided [RCV000196297] Chr16:1986002 [GRCh38]
Chr16:2036003 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1860861-2070554)x3 copy number gain See cases [RCV000240428] Chr16:1860861..2070554 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.25del (p.Arg9fs) deletion not provided [RCV000487913] Chr16:1984242 [GRCh38]
Chr16:2034243 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
NM_005262.3(GFER):c.*3G>T single nucleotide variant GFER-related disorder [RCV003970146]|not provided [RCV001703638] Chr16:1986031 [GRCh38]
Chr16:2036032 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.586C>T (p.Arg196Cys) single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV000709773]|Mitochondrial disease [RCV000508691] Chr16:1985996 [GRCh38]
Chr16:2035997 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance|not provided
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
NM_005262.2(GFER):c.-55_-44delGACCTGGAGGCT deletion not specified [RCV000610288] Chr16:1984154..1984165 [GRCh38]
Chr16:2034155..2034166 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.12C>T (p.Pro4=) single nucleotide variant not provided [RCV002528685]|not specified [RCV000610908] Chr16:1984230 [GRCh38]
Chr16:2034231 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
NM_005262.3(GFER):c.456-9C>T single nucleotide variant not provided [RCV000924966]|not specified [RCV000603882] Chr16:1985857 [GRCh38]
Chr16:2035858 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.566C>G (p.Ser189Ter) single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV003479177]|Inborn genetic diseases [RCV000622535] Chr16:1985976 [GRCh38]
Chr16:2035977 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.496T>C (p.Phe166Leu) single nucleotide variant not provided [RCV000676339] Chr16:1985906 [GRCh38]
Chr16:2035907 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.217del (p.Ala73fs) deletion Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV000679993]|not provided [RCV000676337] Chr16:1984433 [GRCh38]
Chr16:2034434 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_005262.3(GFER):c.457C>T (p.Leu153=) single nucleotide variant not provided [RCV000676338] Chr16:1985867 [GRCh38]
Chr16:2035868 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.588C>T (p.Arg196=) single nucleotide variant not provided [RCV000676340] Chr16:1985998 [GRCh38]
Chr16:2035999 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1 copy number loss not provided [RCV000683746] Chr16:1734363..2285561 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1807896-2311160)x3 copy number gain not provided [RCV000738986] Chr16:1807896..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1813658-2319717)x3 copy number gain not provided [RCV000738989] Chr16:1813658..2319717 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2018777-2087562)x3 copy number gain not provided [RCV000751513] Chr16:2018777..2087562 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2022074-2081503)x3 copy number gain not provided [RCV000751514] Chr16:2022074..2081503 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2024204-2087562)x3 copy number gain not provided [RCV000751515] Chr16:2024204..2087562 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2024205-2070582)x3 copy number gain not provided [RCV000751516] Chr16:2024205..2070582 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2024205-2087547)x3 copy number gain not provided [RCV000751517] Chr16:2024205..2087547 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2026891-2043980)x3 copy number gain not provided [RCV000751518] Chr16:2026891..2043980 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2026891-2048437)x3 copy number gain not provided [RCV000751519] Chr16:2026891..2048437 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2026891-2081503)x3 copy number gain not provided [RCV000751520] Chr16:2026891..2081503 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2027115-2087562)x3 copy number gain not provided [RCV000751521] Chr16:2027115..2087562 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2036937-2093576)x1 copy number loss not provided [RCV000751522] Chr16:2036937..2093576 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.*187T>A single nucleotide variant not provided [RCV001678971] Chr16:1986215 [GRCh38]
Chr16:2036216 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.601G>A (p.Asp201Asn) single nucleotide variant not provided [RCV001566691] Chr16:1986011 [GRCh38]
Chr16:2036012 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.129C>T (p.Asp43=) single nucleotide variant not provided [RCV000941915] Chr16:1984347 [GRCh38]
Chr16:2034348 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.259-25_259-24del deletion Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV000824905] Chr16:1984721..1984722 [GRCh38]
Chr16:2034722..2034723 [GRCh37]
Chr16:16p13.3		 likely pathogenic
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.2(GFER):c.-83C>T single nucleotide variant not provided [RCV000830818] Chr16:1984136 [GRCh38]
Chr16:2034137 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.456-105T>C single nucleotide variant not provided [RCV000835524] Chr16:1985761 [GRCh38]
Chr16:2035762 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.456-83C>T single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV001544255]|not provided [RCV000835525] Chr16:1985783 [GRCh38]
Chr16:2035784 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.219del (p.Cys74fs) deletion Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV000824904] Chr16:1984436 [GRCh38]
Chr16:2034437 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_005262.2(GFER):c.-75C>G single nucleotide variant not provided [RCV000832936] Chr16:1984144 [GRCh38]
Chr16:2034145 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.2(GFER):c.-150G>A single nucleotide variant not provided [RCV000832987] Chr16:1984069 [GRCh38]
Chr16:2034070 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.10:g.(?_1523498)_(2064447_?)del deletion Tuberous sclerosis 2 [RCV001032344] Chr16:1573499..2114448 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.2(GFER):c.-279C>A single nucleotide variant not provided [RCV000830970] Chr16:1983940 [GRCh38]
Chr16:1983940..1983941 [GRCh38]
Chr16:2033941 [GRCh37]
Chr16:2033941..2033942 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.2(GFER):c.-250C>G single nucleotide variant not provided [RCV000830817] Chr16:1983969 [GRCh38]
Chr16:2033970 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.559G>T (p.Asp187Tyr) single nucleotide variant not provided [RCV001171575] Chr16:1985969 [GRCh38]
Chr16:2035970 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_005262.3(GFER):c.502C>T (p.Gln168Ter) single nucleotide variant not provided [RCV000995469] Chr16:1985912 [GRCh38]
Chr16:2035913 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_005262.3(GFER):c.421C>T (p.Pro141Ser) single nucleotide variant Inborn genetic diseases [RCV002550679]|not provided [RCV000995468] Chr16:1984909 [GRCh38]
Chr16:2034910 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.136G>C (p.Ala46Pro) single nucleotide variant Inborn genetic diseases [RCV003290491] Chr16:1984354 [GRCh38]
Chr16:2034355 [GRCh37]
Chr16:16p13.3		 uncertain significance
Single allele inversion Hereditary cancer-predisposing syndrome [RCV000850149] Chr16:1566500..2119769 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2034220)_(2152787_?)del deletion Tuberous sclerosis 2 [RCV003105244] Chr16:2034220..2152787 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.68G>C (p.Arg23Pro) single nucleotide variant not provided [RCV003126986] Chr16:1984286 [GRCh38]
Chr16:2034287 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.541C>G (p.Leu181Val) single nucleotide variant Inborn genetic diseases [RCV003273022] Chr16:1985951 [GRCh38]
Chr16:2035952 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.*19T>C single nucleotide variant not provided [RCV001637791] Chr16:1986047 [GRCh38]
Chr16:2036048 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.259-87T>C single nucleotide variant not provided [RCV001666696] Chr16:1984660 [GRCh38]
Chr16:2034661 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.456-253G>C single nucleotide variant not provided [RCV001685284] Chr16:1985613 [GRCh38]
Chr16:2035614 [GRCh37]
Chr16:16p13.3		 benign
NM_005262.3(GFER):c.90G>A (p.Leu30=) single nucleotide variant not provided [RCV000928129] Chr16:1984308 [GRCh38]
Chr16:2034309 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.477C>T (p.Asp159=) single nucleotide variant not provided [RCV000909289] Chr16:1985887 [GRCh38]
Chr16:2035888 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.534C>T (p.Asn178=) single nucleotide variant not provided [RCV000909389] Chr16:1985944 [GRCh38]
Chr16:2035945 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.541C>T (p.Leu181=) single nucleotide variant not provided [RCV000935783] Chr16:1985951 [GRCh38]
Chr16:2035952 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.*88C>T single nucleotide variant not provided [RCV001553310] Chr16:1986116 [GRCh38]
Chr16:2036117 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.258+1G>A single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV002471905]|not provided [RCV002573620] Chr16:1984477 [GRCh38]
Chr16:2034478 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.575A>G (p.Asp192Gly) single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV001542783] Chr16:1985985 [GRCh38]
Chr16:2035986 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.280G>A (p.Asp94Asn) single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV001195755]|not provided [RCV001355569] Chr16:1984768 [GRCh38]
Chr16:2034769 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_1203718)_(2185710_?)del deletion Tuberous sclerosis 2 [RCV001033886] Chr16:1203718..2185710 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2011148-2161281)x3 copy number gain not provided [RCV001259758] Chr16:2011148..2161281 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.1984018_1984019insCCGCCCCGGCC insertion not provided [RCV001537041] Chr16:1984011..1984012 [GRCh38]
Chr16:2034012..2034013 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.10:g.1851807_2093151del deletion Tuberous sclerosis 2 [RCV001257345] Chr16:1851807..2093151 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.580C>T (p.Arg194Cys) single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV002272990]|not provided [RCV003101546] Chr16:1985990 [GRCh38]
Chr16:2035991 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_005262.3(GFER):c.617AG[3] (p.Ter206=) microsatellite not provided [RCV001733140] Chr16:1986026..1986027 [GRCh38]
Chr16:2036027..2036028 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.496T>G (p.Phe166Val) single nucleotide variant not provided [RCV001754351] Chr16:1985906 [GRCh38]
Chr16:2035907 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.409T>C (p.Ser137Pro) single nucleotide variant Inborn genetic diseases [RCV003298965]|not provided [RCV001766922] Chr16:1984897 [GRCh38]
Chr16:2034898 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2003468)_(2126543_?)del deletion Tuberous sclerosis 2 [RCV001949704] Chr16:2003468..2126543 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.34G>A (p.Gly12Ser) single nucleotide variant Inborn genetic diseases [RCV002550414]|not provided [RCV001874341] Chr16:1984252 [GRCh38]
Chr16:2034253 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.434G>A (p.Cys145Tyr) single nucleotide variant not provided [RCV001971779] Chr16:1984922 [GRCh38]
Chr16:2034923 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.216G>A (p.Arg72=) single nucleotide variant not provided [RCV001824539] Chr16:1984434 [GRCh38]
Chr16:2034435 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3 copy number gain not provided [RCV001827737] Chr16:1830141..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1847662-2653144) copy number gain not specified [RCV002052502] Chr16:1847662..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.610T>C (p.Cys204Arg) single nucleotide variant Inborn genetic diseases [RCV002550463]|not provided [RCV002034079] Chr16:1986020 [GRCh38]
Chr16:2036021 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.199C>T (p.Arg67Trp) single nucleotide variant not provided [RCV002038484] Chr16:1984417 [GRCh38]
Chr16:2034418 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2034220)_(2136892_?)del deletion Tuberous sclerosis 2 [RCV001939677] Chr16:2034220..2136892 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2029297)_(2096295_?)del deletion not provided [RCV001958665] Chr16:2029297..2096295 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.236C>A (p.Thr79Lys) single nucleotide variant not provided [RCV001923752] Chr16:1984454 [GRCh38]
Chr16:2034455 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.429G>T (p.Glu143Asp) single nucleotide variant not provided [RCV002029419] Chr16:1984917 [GRCh38]
Chr16:2034918 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.591C>G (p.Asp197Glu) single nucleotide variant not provided [RCV002165255] Chr16:1986001 [GRCh38]
Chr16:2036002 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity
NM_005262.3(GFER):c.138C>T (p.Ala46=) single nucleotide variant not provided [RCV002145982] Chr16:1984356 [GRCh38]
Chr16:2034357 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.536G>A (p.Arg179His) single nucleotide variant Inborn genetic diseases [RCV003015320]|not provided [RCV002111861] Chr16:1985946 [GRCh38]
Chr16:2035947 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_005262.3(GFER):c.600G>A (p.Lys200=) single nucleotide variant not provided [RCV002117241] Chr16:1986010 [GRCh38]
Chr16:2036011 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.205C>A (p.Arg69=) single nucleotide variant not provided [RCV003112354] Chr16:1984423 [GRCh38]
Chr16:2034424 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.36C>T (p.Gly12=) single nucleotide variant not provided [RCV003121193] Chr16:1984254 [GRCh38]
Chr16:2034255 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.10:g.1903155_2093402del deletion Tuberous sclerosis 2 [RCV002267197] Chr16:1903155..2093402 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.173A>G (p.Asp58Gly) single nucleotide variant not provided [RCV002291891] Chr16:1984391 [GRCh38]
Chr16:2034392 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3 copy number gain not provided [RCV002473837] Chr16:1942430..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2021144-2146432)x1 copy number loss not provided [RCV002472911] Chr16:2021144..2146432 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.127G>T (p.Asp43Tyr) single nucleotide variant Inborn genetic diseases [RCV002622026]|not provided [RCV002614339] Chr16:1984345 [GRCh38]
Chr16:2034346 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1 copy number loss not provided [RCV002472534] Chr16:2021144..2266791 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.72C>T (p.Ser24=) single nucleotide variant not provided [RCV002681943] Chr16:1984290 [GRCh38]
Chr16:2034291 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.258+17G>C single nucleotide variant not provided [RCV002880894] Chr16:1984493 [GRCh38]
Chr16:2034494 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.259-26C>T single nucleotide variant not provided [RCV002815387] Chr16:1984721 [GRCh38]
Chr16:2034722 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.56C>T (p.Pro19Leu) single nucleotide variant not provided [RCV002681510] Chr16:1984274 [GRCh38]
Chr16:2034275 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.456-17C>G single nucleotide variant not provided [RCV002617441] Chr16:1985849 [GRCh38]
Chr16:2035850 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.279G>A (p.Glu93=) single nucleotide variant not provided [RCV002863848] Chr16:1984767 [GRCh38]
Chr16:2034768 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.420C>A (p.Tyr140Ter) single nucleotide variant not provided [RCV002839313] Chr16:1984908 [GRCh38]
Chr16:2034909 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.209C>G (p.Pro70Arg) single nucleotide variant Inborn genetic diseases [RCV002978158] Chr16:1984427 [GRCh38]
Chr16:2034428 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.288G>A (p.Pro96=) single nucleotide variant not provided [RCV002760672] Chr16:1984776 [GRCh38]
Chr16:2034777 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.6G>C (p.Ala2=) single nucleotide variant not provided [RCV002846902] Chr16:1984224 [GRCh38]
Chr16:2034225 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.390C>T (p.Ala130=) single nucleotide variant not provided [RCV002948321] Chr16:1984878 [GRCh38]
Chr16:2034879 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.374A>G (p.Gln125Arg) single nucleotide variant not provided [RCV002760990] Chr16:1984862 [GRCh38]
Chr16:2034863 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.258+20T>C single nucleotide variant not provided [RCV002913831] Chr16:1984496 [GRCh38]
Chr16:2034497 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.393G>A (p.Gln131=) single nucleotide variant not provided [RCV002637915] Chr16:1984881 [GRCh38]
Chr16:2034882 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.45C>G (p.Leu15=) single nucleotide variant not provided [RCV002848398] Chr16:1984263 [GRCh38]
Chr16:2034264 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.258+17G>T single nucleotide variant not provided [RCV002932205] Chr16:1984493 [GRCh38]
Chr16:2034494 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.571G>A (p.Val191Met) single nucleotide variant not provided [RCV002667947] Chr16:1985981 [GRCh38]
Chr16:2035982 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.501A>G (p.Thr167=) single nucleotide variant not provided [RCV003082702] Chr16:1985911 [GRCh38]
Chr16:2035912 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.181G>C (p.Val61Leu) single nucleotide variant not provided [RCV003040113] Chr16:1984399 [GRCh38]
Chr16:2034400 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.129C>A (p.Asp43Glu) single nucleotide variant not provided [RCV002626887] Chr16:1984347 [GRCh38]
Chr16:2034348 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.146C>G (p.Ser49Trp) single nucleotide variant Inborn genetic diseases [RCV002713759] Chr16:1984364 [GRCh38]
Chr16:2034365 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.116C>T (p.Ala39Val) single nucleotide variant not provided [RCV002918678] Chr16:1984334 [GRCh38]
Chr16:2034335 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.133G>A (p.Ala45Thr) single nucleotide variant Inborn genetic diseases [RCV004064394]|not provided [RCV002576299] Chr16:1984351 [GRCh38]
Chr16:2034352 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.387G>A (p.Met129Ile) single nucleotide variant not provided [RCV003006480] Chr16:1984875 [GRCh38]
Chr16:2034876 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.37G>C (p.Gly13Arg) single nucleotide variant not provided [RCV002871792] Chr16:1984255 [GRCh38]
Chr16:2034256 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.444C>G (p.Asp148Glu) single nucleotide variant not provided [RCV003023871] Chr16:1984932 [GRCh38]
Chr16:2034933 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.456-5C>T single nucleotide variant not provided [RCV002594272] Chr16:1985861 [GRCh38]
Chr16:2035862 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.137C>T (p.Ala46Val) single nucleotide variant not provided [RCV002745665] Chr16:1984355 [GRCh38]
Chr16:2034356 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.35G>C (p.Gly12Ala) single nucleotide variant not provided [RCV002627057] Chr16:1984253 [GRCh38]
Chr16:2034254 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.51C>T (p.Phe17=) single nucleotide variant not provided [RCV002642416] Chr16:1984269 [GRCh38]
Chr16:2034270 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.510G>C (p.Leu170=) single nucleotide variant not provided [RCV002765716] Chr16:1985920 [GRCh38]
Chr16:2035921 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.61G>A (p.Gly21Ser) single nucleotide variant Inborn genetic diseases [RCV002893672] Chr16:1984279 [GRCh38]
Chr16:2034280 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.312C>G (p.Arg104=) single nucleotide variant not provided [RCV002786368] Chr16:1984800 [GRCh38]
Chr16:2034801 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.363C>A (p.Pro121=) single nucleotide variant not provided [RCV002829581] Chr16:1984851 [GRCh38]
Chr16:2034852 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.193G>A (p.Ala65Thr) single nucleotide variant not provided [RCV002852868] Chr16:1984411 [GRCh38]
Chr16:2034412 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.579G>A (p.Glu193=) single nucleotide variant not provided [RCV002663572] Chr16:1985989 [GRCh38]
Chr16:2035990 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.168C>T (p.Thr56=) single nucleotide variant not provided [RCV002663675] Chr16:1984386 [GRCh38]
Chr16:2034387 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.284G>A (p.Cys95Tyr) single nucleotide variant Inborn genetic diseases [RCV002767012] Chr16:1984772 [GRCh38]
Chr16:2034773 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.18G>C (p.Glu6Asp) single nucleotide variant not provided [RCV002631902] Chr16:1984236 [GRCh38]
Chr16:2034237 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.112G>A (p.Gly38Ser) single nucleotide variant not provided [RCV002937807] Chr16:1984330 [GRCh38]
Chr16:2034331 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.63C>T (p.Gly21=) single nucleotide variant not provided [RCV002627459] Chr16:1984281 [GRCh38]
Chr16:2034282 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.42C>G (p.Asn14Lys) single nucleotide variant Inborn genetic diseases [RCV004064555]|not provided [RCV002581317] Chr16:1984260 [GRCh38]
Chr16:2034261 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.277G>A (p.Glu93Lys) single nucleotide variant not provided [RCV002627699] Chr16:1984765 [GRCh38]
Chr16:2034766 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.259-16C>T single nucleotide variant not provided [RCV002630330] Chr16:1984731 [GRCh38]
Chr16:2034732 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.576T>C (p.Asp192=) single nucleotide variant not provided [RCV002898752] Chr16:1985986 [GRCh38]
Chr16:2035987 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.254A>G (p.Gln85Arg) single nucleotide variant Inborn genetic diseases [RCV002934090] Chr16:1984472 [GRCh38]
Chr16:2034473 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.324T>C (p.Ala108=) single nucleotide variant not provided [RCV003047455] Chr16:1984812 [GRCh38]
Chr16:2034813 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.259-6C>A single nucleotide variant not provided [RCV002811310] Chr16:1984741 [GRCh38]
Chr16:2034742 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.352C>G (p.Pro118Ala) single nucleotide variant not provided [RCV002604146] Chr16:1984840 [GRCh38]
Chr16:2034841 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.337C>G (p.Leu113Val) single nucleotide variant not provided [RCV002725718] Chr16:1984825 [GRCh38]
Chr16:2034826 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.368C>T (p.Pro123Leu) single nucleotide variant not provided [RCV003071496] Chr16:1984856 [GRCh38]
Chr16:2034857 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.591C>T (p.Asp197=) single nucleotide variant not provided [RCV002608710] Chr16:1986001 [GRCh38]
Chr16:2036002 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.55C>T (p.Pro19Ser) single nucleotide variant not provided [RCV003071856]|not specified [RCV003317645] Chr16:1984273 [GRCh38]
Chr16:2034274 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.53T>G (p.Leu18Arg) single nucleotide variant not provided [RCV002608151] Chr16:1984271 [GRCh38]
Chr16:2034272 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.558C>T (p.Phe186=) single nucleotide variant GFER-related disorder [RCV003963688]|not provided [RCV002606571] Chr16:1985968 [GRCh38]
Chr16:2035969 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.335C>T (p.Thr112Ile) single nucleotide variant not provided [RCV003072691] Chr16:1984823 [GRCh38]
Chr16:2034824 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 copy number loss not provided [RCV003222891] Chr16:811896..2130379 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_005262.3(GFER):c.535C>T (p.Arg179Cys) single nucleotide variant not provided [RCV003228551] Chr16:1985945 [GRCh38]
Chr16:2035946 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.445C>T (p.Leu149=) single nucleotide variant not provided [RCV003570658] Chr16:1984933 [GRCh38]
Chr16:2034934 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 copy number gain not provided [RCV003485080] Chr16:1054247..2592737 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_005262.3(GFER):c.555C>T (p.Asp185=) single nucleotide variant not provided [RCV003831219] Chr16:1985965 [GRCh38]
Chr16:2035966 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.522C>T (p.His174=) single nucleotide variant not provided [RCV003662577] Chr16:1985932 [GRCh38]
Chr16:2035933 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.456-4A>G single nucleotide variant not provided [RCV003882383] Chr16:1985862 [GRCh38]
Chr16:2035863 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.399A>T (p.Ile133=) single nucleotide variant not provided [RCV003575941] Chr16:1984887 [GRCh38]
Chr16:2034888 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.153A>T (p.Pro51=) single nucleotide variant not provided [RCV003662778] Chr16:1984371 [GRCh38]
Chr16:2034372 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.456-12C>G single nucleotide variant not provided [RCV003692851] Chr16:1985854 [GRCh38]
Chr16:2035855 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.455+12T>C single nucleotide variant not provided [RCV003834894] Chr16:1984955 [GRCh38]
Chr16:2034956 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.186C>G (p.Ala62=) single nucleotide variant not provided [RCV003717017] Chr16:1984404 [GRCh38]
Chr16:2034405 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.456-14C>T single nucleotide variant not provided [RCV003813851] Chr16:1985852 [GRCh38]
Chr16:2035853 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.42C>T (p.Asn14=) single nucleotide variant not provided [RCV003817039] Chr16:1984260 [GRCh38]
Chr16:2034261 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.315C>T (p.His105=) single nucleotide variant not provided [RCV003811327] Chr16:1984803 [GRCh38]
Chr16:2034804 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.9G>A (p.Ala3=) single nucleotide variant not provided [RCV003725547] Chr16:1984227 [GRCh38]
Chr16:2034228 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.258+10C>T single nucleotide variant not provided [RCV003840715] Chr16:1984486 [GRCh38]
Chr16:2034487 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.449del (p.Arg150fs) deletion not provided [RCV003684396] Chr16:1984937 [GRCh38]
Chr16:2034938 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.259-3C>T single nucleotide variant GFER-related disorder [RCV003934624] Chr16:1984744 [GRCh38]
Chr16:2034745 [GRCh37]
Chr16:16p13.3		 likely benign
NM_005262.3(GFER):c.352C>A (p.Pro118Thr) single nucleotide variant Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [RCV003991175] Chr16:1984840 [GRCh38]
Chr16:2034841 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.41A>C (p.Asn14Thr) single nucleotide variant Inborn genetic diseases [RCV004387782] Chr16:1984259 [GRCh38]
Chr16:2034260 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_005262.3(GFER):c.378G>T (p.Gln126His) single nucleotide variant Inborn genetic diseases [RCV004387781] Chr16:1984866 [GRCh38]
Chr16:2034867 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_1607916)_(2130398_?)dup duplication Tuberous sclerosis 2 [RCV004582694] Chr16:1607916..2130398 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_1822222)_(2550959_?)dup duplication Developmental and epileptic encephalopathy, 1 [RCV004582753] Chr16:1822222..2550959 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2027
Count of miRNA genes:870
Interacting mature miRNAs:1053
Transcripts:ENST00000248114, ENST00000561710, ENST00000565658, ENST00000567719, ENST00000569451
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
407385881GWAS1034857_Hobsolete_red blood cell distribution width QTL GWAS1034857 (human)3e-11obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)1619860471986048Human

Markers in Region
RH98312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37162,037,479 - 2,037,660UniSTSGRCh37
Build 36161,977,480 - 1,977,661RGDNCBI36
Celera162,249,658 - 2,249,839RGD
Cytogenetic Map16p13.3-p13.12UniSTS
HuRef161,961,532 - 1,961,713UniSTS
GeneMap99-GB4 RH Map1665.21UniSTS
RH80826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37162,036,512 - 2,036,747UniSTSGRCh37
Build 36161,976,513 - 1,976,748RGDNCBI36
Celera162,248,691 - 2,248,926RGD
Cytogenetic Map16p13.3-p13.12UniSTS
HuRef161,960,565 - 1,960,800UniSTS
GeneMap99-GB4 RH Map1664.4UniSTS
RH70597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37162,036,544 - 2,036,669UniSTSGRCh37
Build 36161,976,545 - 1,976,670RGDNCBI36
Celera162,248,723 - 2,248,848RGD
Cytogenetic Map16p13.3-p13.12UniSTS
HuRef161,960,597 - 1,960,722UniSTS
GeneMap99-GB4 RH Map1626.13UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF124603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF124604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF183892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF184243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF208342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF306863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY550027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG705583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U31176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000248114   ⟹   ENSP00000248114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,984,193 - 1,987,749 (+)Ensembl
Ensembl Acc Id: ENST00000561710   ⟹   ENSP00000456189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,984,258 - 1,985,009 (+)Ensembl
Ensembl Acc Id: ENST00000565658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,984,332 - 1,986,618 (+)Ensembl
Ensembl Acc Id: ENST00000567719   ⟹   ENSP00000455885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,984,658 - 1,987,749 (+)Ensembl
Ensembl Acc Id: ENST00000569451   ⟹   ENSP00000456432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,984,207 - 1,986,112 (+)Ensembl
RefSeq Acc Id: NM_005262   ⟹   NP_005253
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,984,193 - 1,987,749 (+)NCBI
GRCh37162,034,150 - 2,037,750 (+)NCBI
Build 36161,974,151 - 1,977,751 (+)NCBI Archive
HuRef161,958,203 - 1,961,803 (+)NCBI
CHM1_1162,034,076 - 2,037,676 (+)NCBI
T2T-CHM13v2.0162,004,138 - 2,007,694 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005253   ⟸   NM_005262
- UniProtKB: Q9H290 (UniProtKB/Swiss-Prot),   Q8TAH6 (UniProtKB/Swiss-Prot),   Q53YM6 (UniProtKB/Swiss-Prot),   Q9UK40 (UniProtKB/Swiss-Prot),   P55789 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000456432   ⟸   ENST00000569451
Ensembl Acc Id: ENSP00000456189   ⟸   ENST00000561710
Ensembl Acc Id: ENSP00000248114   ⟸   ENST00000248114
Ensembl Acc Id: ENSP00000455885   ⟸   ENST00000567719
Protein Domains
ERV/ALR sulfhydryl oxidase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55789-F1-model_v2 AlphaFold P55789 1-205 view protein structure

Promoters
RGD ID:6793153
Promoter ID:HG_KWN:22751
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005262,   UC002COC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,973,396 - 1,974,887 (+)MPROMDB
RGD ID:7230973
Promoter ID:EPDNEW_H21232
Type:multiple initiation site
Name:GFER_1
Description:growth factor, augmenter of liver regeneration
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21233  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,984,205 - 1,984,265EPDNEW
RGD ID:7230975
Promoter ID:EPDNEW_H21233
Type:initiation region
Name:GFER_2
Description:growth factor, augmenter of liver regeneration
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21232  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,984,639 - 1,984,699EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4236 AgrOrtholog
COSMIC GFER COSMIC
Ensembl Genes ENSG00000127554 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291944 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000248114 ENTREZGENE
  ENST00000248114.7 UniProtKB/Swiss-Prot
  ENST00000561710.1 UniProtKB/TrEMBL
  ENST00000567719.2 UniProtKB/TrEMBL
  ENST00000569451.1 UniProtKB/TrEMBL
  ENST00000709288.1 UniProtKB/Swiss-Prot
  ENST00000709289.1 UniProtKB/TrEMBL
  ENST00000709290.1 UniProtKB/TrEMBL
  ENST00000709292.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.310 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000127554 GTEx
  ENSG00000291944 GTEx
HGNC ID HGNC:4236 ENTREZGENE
Human Proteome Map GFER Human Proteome Map
InterPro ALR/ERV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERV/ALR_sulphydryl_oxid_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERV/ALR_sulphydryl_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2671 UniProtKB/Swiss-Prot
NCBI Gene 2671 ENTREZGENE
OMIM 600924 OMIM
PANTHER FAD-LINKED SULFHYDRYL OXIDASE ALR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12645 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Evr1_Alr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28648 PharmGKB
PROSITE ERV_ALR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF69000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ALR_HUMAN UniProtKB/Swiss-Prot
  H3BQQ4_HUMAN UniProtKB/TrEMBL
  H3BRD2_HUMAN UniProtKB/TrEMBL
  H3BRW3_HUMAN UniProtKB/TrEMBL
  P55789 ENTREZGENE
  Q53YM6 ENTREZGENE
  Q8TAH6 ENTREZGENE
  Q9H290 ENTREZGENE
  Q9UK40 ENTREZGENE
UniProt Secondary Q53YM6 UniProtKB/Swiss-Prot
  Q8TAH6 UniProtKB/Swiss-Prot
  Q9H290 UniProtKB/Swiss-Prot
  Q9UK40 UniProtKB/Swiss-Prot