HMBS (hydroxymethylbilane synthase) - Rat Genome Database

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Gene: HMBS (hydroxymethylbilane synthase) Homo sapiens
Analyze
Symbol: HMBS
Name: hydroxymethylbilane synthase
RGD ID: 733095
HGNC Page HGNC
Description: Enables hydroxymethylbilane synthase activity. Involved in heme biosynthetic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Implicated in acute intermittent porphyria and sickle cell anemia. Biomarker of prostate carcinoma; seminoma; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Chester type; PBG-D; PBGD; PORC; porphobilinogen deaminase; porphyria, acute; porphyria, acute, Chester type; porphyria, acute; Chester type; pre-uroporphyrinogen synthase; UPS; uroporphyrinogen I synthase; uroporphyrinogen I synthetase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11119,084,866 - 119,093,549 (+)EnsemblGRCh38hg38GRCh38
GRCh3811119,084,864 - 119,093,549 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711118,955,591 - 118,964,259 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,460,797 - 118,469,469 (+)NCBINCBI36hg18NCBI36
Build 3411118,460,802 - 118,469,467NCBI
Celera11116,113,008 - 116,121,673 (+)NCBI
Cytogenetic Map11q23.3NCBI
HuRef11114,895,043 - 114,903,707 (+)NCBIHuRef
CHM1_111118,841,878 - 118,850,561 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
aclacinomycin A  (EXP)
aconitine  (ISO)
acrolein  (EXP)
alpha-pinene  (EXP)
aluminium ion  (ISO)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
arsenous acid  (EXP)
barium ion  (ISO)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP)
butyric acid  (EXP)
calcium ion  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
catechol  (EXP)
Chebulinic acid  (EXP)
chloroquine  (EXP)
chromium ion  (ISO)
clothianidin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dihydrofolic acid  (ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethyl methanesulfonate  (EXP)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
gallic acid  (EXP)
hemin  (EXP)
hexachlorobenzene  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
hydroquinone  (EXP)
imipramine  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
lead ion  (ISO)
lead(II) chloride  (EXP,ISO)
magnesium ion  (ISO)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
N-acetyl-L-cysteine  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nickel ion  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
phenol  (EXP)
pirinixic acid  (ISO)
preuroporphyrinogen  (EXP)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
S-adenosyl-L-homocysteine  (EXP)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
selenium atom  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sulfacetamide  (ISO)
sulfadiazine  (ISO)
sulfamerazine  (ISO)
sulfamoxole  (ISO)
sulfanilamide  (ISO)
sulfapyridine  (ISO)
sulfisomidine  (ISO)
sulfisoxazole  (ISO)
tamoxifen  (EXP)
Tellimagrandin I  (EXP)
thapsigargin  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
urethane  (EXP)
vinclozolin  (ISO)
zinc ion  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal enzyme/coenzyme activity  (IAGP)
Acute episodes of neuropathic symptoms  (IAGP)
Anxiety  (IAGP)
Autosomal dominant inheritance  (IAGP)
Back pain  (IAGP)
Brain imaging abnormality  (IAGP)
Coma  (IAGP)
Confusion  (IAGP)
Constipation  (IAGP)
Cranial nerve paralysis  (IAGP)
Dark urine  (IAGP)
Depression  (IAGP)
Diarrhea  (IAGP)
Distal muscle weakness  (IAGP)
Dysuria  (IAGP)
Elevated urinary delta-aminolevulinic acid  (IAGP)
Emotional lability  (IAGP)
Excessive daytime somnolence  (IAGP)
Fever  (IAGP)
Hallucinations  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hyperhidrosis  (IAGP)
Hypertension  (IAGP)
Hyponatremia  (IAGP)
Ileus  (IAGP)
Increased urinary porphobilinogen  (IAGP)
Insomnia  (IAGP)
Limb pain  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Motor axonal neuropathy  (IAGP)
Motor polyneuropathy  (IAGP)
Muscle weakness  (IAGP)
Nausea  (IAGP)
Nausea and vomiting  (IAGP)
Neck pain  (IAGP)
obsolete Mood changes  (IAGP)
Paralytic ileus  (IAGP)
Paranoia  (IAGP)
Paresthesia  (IAGP)
Porphyrinuria  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Pseudobulbar paralysis  (IAGP)
Psychotic episodes  (IAGP)
Renal insufficiency  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory paralysis  (IAGP)
Restlessness  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Somatic sensory dysfunction  (IAGP)
Tachycardia  (IAGP)
Tremor  (IAGP)
Urinary incontinence  (IAGP)
Urinary retention  (IAGP)
Visual loss  (IAGP)
Vomiting  (IAGP)
References

References - curated
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5. Christenson WR, etal., Life Sci. 1986 May 5;38(18):1679-84.
6. de Rooij FW, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):64-9.
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18. Loskove Y, etal., Mol Genet Metab. 2019 Nov;128(3):352-357. doi: 10.1016/j.ymgme.2018.10.008. Epub 2018 Oct 26.
19. Lundin G, etal., Hum Genet. 1994 Jan;93(1):59-62. doi: 10.1007/bf00218914.
20. Maeda N, etal., Clin Biochem. 1999 Aug;32(6):411-7. doi: 10.1016/s0009-9120(99)00043-0.
21. Mazzetti MB and Tomio JM, Biochim Biophys Acta. 1988 Nov 2;957(1):97-104.
22. Méndez M, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):55-63.
23. Neuvians TP, etal., J Biotechnol. 2005 May 4;117(2):163-71.
24. Ohl F, etal., J Mol Med. 2005 Dec;83(12):1014-24. Epub 2005 Oct 7.
25. Ohl F, etal., J Urol. 2006 May;175(5):1915-20.
26. OMIM Disease Annotation Pipeline
27. Peters PG, etal., Arch Biochem Biophys. 1980 Apr 15;201(1):88-94. doi: 10.1016/0003-9861(80)90490-7.
28. Pipeline to import KEGG annotations from KEGG into RGD
29. Pipeline to import SMPDB annotations from SMPDB into RGD
30. Piper WN and Van Lier BL, Mol Pharmacol. 1977 Nov;13(6):1126-35.
31. Piper WN and Van Lier RB, Life Sci. 1976 Oct 15;19(8):1225-34. doi: 10.1016/0024-3205(76)90258-7.
32. Piper WN, etal., Arch Biochem Biophys. 1986 Apr;246(1):143-8.
33. Puy H, etal., Hum Genet. 1998 Nov;103(5):570-5.
34. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. RGD automated import pipeline for gene-chemical interactions
36. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
37. Serrano-Mendioroz I, etal., Hum Gene Ther. 2018 Apr;29(4):480-491. doi: 10.1089/hum.2017.056. Epub 2018 Jan 2.
38. Shiue JW, etal., Taiwan Yi Xue Hui Za Zhi. 1989 Jul;88(7):729-31.
39. Tjensvoll K, etal., Dis Markers. 2003-2004;19(1):41-6. doi: 10.1155/2003/384971.
40. Tomie Y, etal., Res Commun Mol Pathol Pharmacol. 1998 Jan;99(1):5-15.
41. Ulbrichova D, etal., Blood Cells Mol Dis. 2009 Mar-Apr;42(2):167-73. doi: 10.1016/j.bcmd.2008.11.001. Epub 2009 Jan 12.
42. Ulbrichova-Douderova D and Martasek P, Anal Biochem. 2009 Dec 1;395(1):41-8. doi: 10.1016/j.ab.2009.07.050. Epub 2009 Aug 5.
43. Van Hillegersberg R, etal., Gastroenterology. 1992 Aug;103(2):647-51. doi: 10.1016/0016-5085(92)90860-2.
44. Wainstok de Calmanovici R, etal., Biochem J. 1984 Mar 15;218(3):753-63.
45. Wainstok de Calmanovici R, etal., Tumori. 1991 Oct 31;77(5):379-84.
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48. Yasuda M, etal., Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003.
Additional References at PubMed
PMID:1301948   PMID:1427766   PMID:1496994   PMID:1714233   PMID:1914516   PMID:1961762   PMID:1981047   PMID:2025226   PMID:2227955   PMID:2243128   PMID:2609111   PMID:2789372  
PMID:2864531   PMID:2875434   PMID:2915972   PMID:3422427   PMID:3816774   PMID:6930671   PMID:7592566   PMID:7757070   PMID:7821789   PMID:7866402   PMID:7916736   PMID:7962538  
PMID:8081367   PMID:8103755   PMID:8262514   PMID:8262523   PMID:8268934   PMID:8270254   PMID:8340112   PMID:8401516   PMID:8825929   PMID:9199558   PMID:9225970   PMID:9463797  
PMID:9654202   PMID:10494093   PMID:10502788   PMID:10602775   PMID:10657149   PMID:10782018   PMID:10790212   PMID:11013452   PMID:11030413   PMID:11071386   PMID:11157504   PMID:11202057  
PMID:11399210   PMID:11831862   PMID:11857754   PMID:12372055   PMID:12406973   PMID:12477932   PMID:12555854   PMID:12773194   PMID:12917623   PMID:14669009   PMID:14970743   PMID:14995910  
PMID:15003823   PMID:15489334   PMID:15643298   PMID:15669678   PMID:16211556   PMID:16390615   PMID:16712791   PMID:16817012   PMID:16935474   PMID:17207965   PMID:17298216   PMID:17298217  
PMID:17459418   PMID:18004775   PMID:18029348   PMID:18070416   PMID:18405488   PMID:18406650   PMID:18554962   PMID:18627369   PMID:18936296   PMID:19021769   PMID:19207107   PMID:19292878  
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Genomics

Comparative Map Data
HMBS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11119,084,866 - 119,093,549 (+)EnsemblGRCh38hg38GRCh38
GRCh3811119,084,864 - 119,093,549 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711118,955,591 - 118,964,259 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,460,797 - 118,469,469 (+)NCBINCBI36hg18NCBI36
Build 3411118,460,802 - 118,469,467NCBI
Celera11116,113,008 - 116,121,673 (+)NCBI
Cytogenetic Map11q23.3NCBI
HuRef11114,895,043 - 114,903,707 (+)NCBIHuRef
CHM1_111118,841,878 - 118,850,561 (+)NCBICHM1_1
Hmbs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,247,645 - 44,255,525 (-)NCBIGRCm39mm39
GRCm39 Ensembl944,247,636 - 44,255,525 (-)Ensembl
GRCm38944,336,348 - 44,344,228 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,336,339 - 44,344,228 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,144,431 - 44,152,311 (-)NCBIGRCm37mm9NCBIm37
MGSCv36944,087,343 - 44,095,170 (-)NCBImm8
Celera941,591,069 - 41,599,175 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
Hmbs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2844,673,554 - 44,680,950 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl844,673,554 - 44,680,957 (-)Ensembl
Rnor_6.0848,667,278 - 48,674,673 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl848,667,275 - 48,674,748 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,286,249 - 47,293,618 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,314,235 - 47,321,604 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1847,323,010 - 47,328,455 (-)NCBI
Celera844,259,787 - 44,267,156 (-)NCBICelera
RH 3.4 Map8428.0RGD
Cytogenetic Map8q22NCBI
Hmbs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541220,192,522 - 20,202,635 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541220,192,519 - 20,202,635 (+)NCBIChiLan1.0ChiLan1.0
HMBS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111117,852,295 - 117,860,757 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,852,295 - 117,860,757 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011113,923,004 - 113,931,732 (+)NCBIMhudiblu_PPA_v0panPan3
HMBS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1514,767,306 - 14,775,205 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl514,767,666 - 14,775,082 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha514,820,660 - 14,828,175 (-)NCBI
ROS_Cfam_1.0514,710,999 - 14,718,527 (-)NCBI
UMICH_Zoey_3.1514,849,036 - 14,856,511 (-)NCBI
UNSW_CanFamBas_1.0514,753,058 - 14,760,536 (-)NCBI
UU_Cfam_GSD_1.0514,793,431 - 14,800,910 (-)NCBI
Hmbs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947101,116,546 - 101,124,682 (+)NCBI
SpeTri2.0NW_0049365424,037,888 - 4,046,089 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HMBS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl946,300,050 - 46,313,936 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1946,300,039 - 46,308,681 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2951,335,231 - 51,343,641 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HMBS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11110,457,799 - 110,466,361 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1110,457,537 - 110,466,095 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604315,567,851 - 15,576,221 (-)NCBIVero_WHO_p1.0
Hmbs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478414,467,515 - 14,474,954 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
STS-M95623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,964,406 - 118,964,654UniSTSGRCh37
Build 3611118,469,616 - 118,469,864RGDNCBI36
Celera11116,121,820 - 116,122,068RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,854 - 114,904,102UniSTS
GeneMap99-GB4 RH Map11385.48UniSTS
G59319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,959,261 - 118,959,387UniSTSGRCh37
Build 3611118,464,471 - 118,464,597RGDNCBI36
Celera11116,116,676 - 116,116,802RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,898,709 - 114,898,835UniSTS
TNG Radiation Hybrid Map1155118.0UniSTS
GDB:176383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,955,746 - 118,955,834UniSTSGRCh37
Build 3611118,460,956 - 118,461,044RGDNCBI36
Celera11116,113,167 - 116,113,255RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,895,202 - 114,895,290UniSTS
GDB:179873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,962,091 - 118,962,350UniSTSGRCh37
Build 3611118,467,301 - 118,467,560RGDNCBI36
Celera11116,119,506 - 116,119,765RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,901,539 - 114,901,798UniSTS
GDB:181636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,955,658 - 118,955,822UniSTSGRCh37
Build 3611118,460,868 - 118,461,032RGDNCBI36
Celera11116,113,079 - 116,113,243RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,895,114 - 114,895,278UniSTS
GDB:185078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,962,091 - 118,962,911UniSTSGRCh37
Build 3611118,467,301 - 118,468,121RGDNCBI36
Celera11116,119,506 - 116,120,325RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,901,539 - 114,902,359UniSTS
GDB:196345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,957,743 - 118,958,635UniSTSGRCh37
Build 3611118,462,953 - 118,463,845RGDNCBI36
Celera11116,115,158 - 116,116,050RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,897,190 - 114,898,083UniSTS
GDB:196348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,961,924 - 118,962,360UniSTSGRCh37
Build 3611118,467,134 - 118,467,570RGDNCBI36
Celera11116,119,339 - 116,119,775RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,901,372 - 114,901,808UniSTS
GDB:197909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,955,452 - 118,955,857UniSTSGRCh37
Build 3611118,460,662 - 118,461,067RGDNCBI36
Celera11116,112,873 - 116,113,278RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,894,908 - 114,895,313UniSTS
GDB:198121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,958,520 - 118,958,837UniSTSGRCh37
Build 3611118,463,730 - 118,464,047RGDNCBI36
Celera11116,115,935 - 116,116,252RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,897,968 - 114,898,285UniSTS
GDB:371404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,955,460 - 118,955,834UniSTSGRCh37
Build 3611118,460,670 - 118,461,044RGDNCBI36
Celera11116,112,881 - 116,113,255RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,894,916 - 114,895,290UniSTS
GDB:371408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,958,546 - 118,958,855UniSTSGRCh37
Build 3611118,463,756 - 118,464,065RGDNCBI36
Celera11116,115,961 - 116,116,270RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,897,994 - 114,898,303UniSTS
GDB:371412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,958,827 - 118,959,058UniSTSGRCh37
Build 3611118,464,037 - 118,464,268RGDNCBI36
Celera11116,116,242 - 116,116,473RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,898,275 - 114,898,506UniSTS
GDB:371415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,959,286 - 118,959,460UniSTSGRCh37
Build 3611118,464,496 - 118,464,670RGDNCBI36
Celera11116,116,701 - 116,116,875RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,898,734 - 114,898,908UniSTS
GDB:371419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,959,733 - 118,960,039UniSTSGRCh37
Build 3611118,464,943 - 118,465,249RGDNCBI36
Celera11116,117,148 - 116,117,454RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,899,181 - 114,899,487UniSTS
GDB:371425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,960,339 - 118,960,515UniSTSGRCh37
Build 3611118,465,549 - 118,465,725RGDNCBI36
Celera11116,117,754 - 116,117,930RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,899,787 - 114,899,963UniSTS
GDB:371431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,960,849 - 118,961,031UniSTSGRCh37
Build 3611118,466,059 - 118,466,241RGDNCBI36
Celera11116,118,264 - 116,118,446RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,900,297 - 114,900,479UniSTS
GDB:371437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,962,773 - 118,962,912UniSTSGRCh37
Build 3611118,467,983 - 118,468,122RGDNCBI36
Celera11116,120,187 - 116,120,326RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,902,221 - 114,902,360UniSTS
GDB:371443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,963,427 - 118,963,572UniSTSGRCh37
Build 3611118,468,637 - 118,468,782RGDNCBI36
Celera11116,120,841 - 116,120,986RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,902,875 - 114,903,020UniSTS
GDB:371447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,963,585 - 118,963,803UniSTSGRCh37
Build 3611118,468,795 - 118,469,013RGDNCBI36
Celera11116,120,999 - 116,121,217RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,033 - 114,903,251UniSTS
GDB:371450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,963,787 - 118,964,025UniSTSGRCh37
Build 3611118,468,997 - 118,469,235RGDNCBI36
Celera11116,121,201 - 116,121,439RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,235 - 114,903,473UniSTS
G02272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37645,138,767 - 45,140,394UniSTSGRCh37
GRCh3711118,957,526 - 118,957,634UniSTSGRCh37
Build 3611118,462,736 - 118,462,844RGDNCBI36
Celera11116,114,941 - 116,115,049RGD
Celera646,691,501 - 46,693,126UniSTS
Cytogenetic Map6p21.1-p21.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef644,861,075 - 44,862,700UniSTS
HuRef11114,896,972 - 114,897,081UniSTS
PMC136706P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,960,339 - 118,960,604UniSTSGRCh37
Build 3611118,465,549 - 118,465,814RGDNCBI36
Celera11116,117,754 - 116,118,019RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,899,787 - 114,900,052UniSTS
PMC165384P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,959,400 - 118,959,518UniSTSGRCh37
Build 3611118,464,610 - 118,464,728RGDNCBI36
Celera11116,116,815 - 116,116,933RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,898,848 - 114,898,966UniSTS
D11S4628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,964,074 - 118,964,215UniSTSGRCh37
Build 3611118,469,284 - 118,469,425RGDNCBI36
Celera11116,121,488 - 116,121,629RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,522 - 114,903,663UniSTS
Stanford-G3 RH Map115331.0UniSTS
NCBI RH Map111024.0UniSTS
GeneMap99-G3 RH Map115331.0UniSTS
HMBS  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,963,989 - 118,964,256UniSTSGRCh37
Build 3611118,469,199 - 118,469,466RGDNCBI36
Celera11116,121,403 - 116,121,670RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,437 - 114,903,704UniSTS
GeneMap99-GB4 RH Map11382.38UniSTS
HMBS_8406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,963,859 - 118,964,399UniSTSGRCh37
Build 3611118,469,069 - 118,469,609RGDNCBI36
Celera11116,121,273 - 116,121,813RGD
HuRef11114,903,307 - 114,903,847UniSTS
MARC_4999-5000:996679654:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,958,976 - 118,959,820UniSTSGRCh37
Build 3611118,464,186 - 118,465,030RGDNCBI36
Celera11116,116,391 - 116,117,235RGD
HuRef11114,898,424 - 114,899,268UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6625
Count of miRNA genes:1069
Interacting mature miRNAs:1333
Transcripts:ENST00000278715, ENST00000392841, ENST00000442944, ENST00000534956, ENST00000535253, ENST00000535793, ENST00000536185, ENST00000536813, ENST00000537841, ENST00000539045, ENST00000539986, ENST00000542044, ENST00000542345, ENST00000542729, ENST00000542822, ENST00000543090, ENST00000543543, ENST00000543821, ENST00000544182, ENST00000544360, ENST00000544387, ENST00000545621, ENST00000545901, ENST00000546226, ENST00000546302
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 882 849 1167 246 1494 191 1881 760 1053 208 700 1139 69 380 1125 4 1
Low 1556 2137 559 378 457 274 2476 1432 2681 211 760 474 106 1 824 1663 2 1
Below cutoff 1 5 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA724756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB162702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB429500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW139390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF210364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ020524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB128006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D12722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ915447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM856802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ731552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ372706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S60381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000392841   ⟹   ENSP00000376584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,087,987 - 119,093,549 (+)Ensembl
RefSeq Acc Id: ENST00000442944   ⟹   ENSP00000392041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,883 - 119,093,512 (+)Ensembl
RefSeq Acc Id: ENST00000534956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,085,031 - 119,091,993 (+)Ensembl
RefSeq Acc Id: ENST00000535253   ⟹   ENSP00000442079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,087,983 - 119,091,526 (+)Ensembl
RefSeq Acc Id: ENST00000535793   ⟹   ENSP00000439904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,915 - 119,091,540 (+)Ensembl
RefSeq Acc Id: ENST00000536185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,866 - 119,089,739 (+)Ensembl
RefSeq Acc Id: ENST00000536813   ⟹   ENSP00000438726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,911 - 119,092,487 (+)Ensembl
RefSeq Acc Id: ENST00000537841   ⟹   ENSP00000444730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,885 - 119,093,516 (+)Ensembl
RefSeq Acc Id: ENST00000539045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,092,611 - 119,093,543 (+)Ensembl
RefSeq Acc Id: ENST00000542044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,909 - 119,093,296 (+)Ensembl
RefSeq Acc Id: ENST00000542345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,087,984 - 119,092,256 (+)Ensembl
RefSeq Acc Id: ENST00000542729   ⟹   ENSP00000443058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,885 - 119,093,546 (+)Ensembl
RefSeq Acc Id: ENST00000542822   ⟹   ENSP00000444817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,907 - 119,091,541 (+)Ensembl
RefSeq Acc Id: ENST00000543090   ⟹   ENSP00000445429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,930 - 119,093,533 (+)Ensembl
RefSeq Acc Id: ENST00000543543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,087,987 - 119,093,518 (+)Ensembl
RefSeq Acc Id: ENST00000543821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,888 - 119,090,046 (+)Ensembl
RefSeq Acc Id: ENST00000544182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,091,538 - 119,093,290 (+)Ensembl
RefSeq Acc Id: ENST00000544360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,088,254 - 119,091,641 (+)Ensembl
RefSeq Acc Id: ENST00000544387   ⟹   ENSP00000438424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,914 - 119,093,548 (+)Ensembl
RefSeq Acc Id: ENST00000545621   ⟹   ENSP00000444849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,881 - 119,092,500 (+)Ensembl
RefSeq Acc Id: ENST00000545901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,881 - 119,088,975 (+)Ensembl
RefSeq Acc Id: ENST00000546226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,087,987 - 119,093,547 (+)Ensembl
RefSeq Acc Id: ENST00000546302   ⟹   ENSP00000445599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,900 - 119,092,163 (+)Ensembl
RefSeq Acc Id: ENST00000640813   ⟹   ENSP00000491061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,898 - 119,093,483 (+)Ensembl
RefSeq Acc Id: ENST00000648026   ⟹   ENSP00000498044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,085,040 - 119,093,483 (+)Ensembl
RefSeq Acc Id: ENST00000648374   ⟹   ENSP00000497255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,087,995 - 119,093,547 (+)Ensembl
RefSeq Acc Id: ENST00000648488   ⟹   ENSP00000498079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,087,987 - 119,092,163 (+)Ensembl
RefSeq Acc Id: ENST00000649823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,085,290 - 119,092,950 (+)Ensembl
RefSeq Acc Id: ENST00000649868   ⟹   ENSP00000497548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,999 - 119,092,001 (+)Ensembl
RefSeq Acc Id: ENST00000650101   ⟹   ENSP00000496970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,085,222 - 119,093,512 (+)Ensembl
RefSeq Acc Id: ENST00000650307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,085,244 - 119,093,501 (+)Ensembl
RefSeq Acc Id: ENST00000652429   ⟹   ENSP00000498786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,084,881 - 119,093,549 (+)Ensembl
RefSeq Acc Id: NM_000190   ⟹   NP_000181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,549 (+)NCBI
GRCh3711118,955,587 - 118,964,259 (+)ENTREZGENE
GRCh3711118,955,587 - 118,964,259 (+)NCBI
Build 3611118,460,797 - 118,469,469 (+)NCBI Archive
HuRef11114,895,043 - 114,903,707 (+)ENTREZGENE
CHM1_111118,841,878 - 118,850,561 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001024382   ⟹   NP_001019553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,087,987 - 119,093,549 (+)NCBI
GRCh3711118,955,587 - 118,964,259 (+)ENTREZGENE
GRCh3711118,955,587 - 118,964,259 (+)NCBI
Build 3611118,463,907 - 118,469,469 (+)NCBI Archive
HuRef11114,895,043 - 114,903,707 (+)ENTREZGENE
CHM1_111118,844,999 - 118,850,561 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258208   ⟹   NP_001245137
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,549 (+)NCBI
GRCh3711118,955,587 - 118,964,259 (+)NCBI
HuRef11114,895,043 - 114,903,707 (+)NCBI
CHM1_111118,841,878 - 118,850,561 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258209   ⟹   NP_001245138
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,549 (+)NCBI
GRCh3711118,955,587 - 118,964,259 (+)NCBI
HuRef11114,895,043 - 114,903,707 (+)NCBI
CHM1_111118,841,878 - 118,850,561 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271531   ⟹   XP_005271588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,890 - 119,093,549 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271532   ⟹   XP_005271589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,888 - 119,093,549 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271533   ⟹   XP_005271590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,871 - 119,093,549 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542796   ⟹   XP_011541098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,087,503 - 119,093,549 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017629   ⟹   XP_016873118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,087,503 - 119,093,549 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448460   ⟹   XP_024304228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,864 - 119,093,549 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000181 (Get FASTA)   NCBI Sequence Viewer  
  NP_001019553 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245137 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245138 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271588 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271589 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271590 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541098 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873118 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304228 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60028 (Get FASTA)   NCBI Sequence Viewer  
  AAA60029 (Get FASTA)   NCBI Sequence Viewer  
  AAA60030 (Get FASTA)   NCBI Sequence Viewer  
  AAC60602 (Get FASTA)   NCBI Sequence Viewer  
  AAH00520 (Get FASTA)   NCBI Sequence Viewer  
  AAH08149 (Get FASTA)   NCBI Sequence Viewer  
  AAH19323 (Get FASTA)   NCBI Sequence Viewer  
  ABI36594 (Get FASTA)   NCBI Sequence Viewer  
  ADX60069 (Get FASTA)   NCBI Sequence Viewer  
  AHW82961 (Get FASTA)   NCBI Sequence Viewer  
  BAA01463 (Get FASTA)   NCBI Sequence Viewer  
  BAA02216 (Get FASTA)   NCBI Sequence Viewer  
  BAA05785 (Get FASTA)   NCBI Sequence Viewer  
  BAD36778 (Get FASTA)   NCBI Sequence Viewer  
  BAF82964 (Get FASTA)   NCBI Sequence Viewer  
  BAG71787 (Get FASTA)   NCBI Sequence Viewer  
  CAA27801 (Get FASTA)   NCBI Sequence Viewer  
  CAA28499 (Get FASTA)   NCBI Sequence Viewer  
  CAA48156 (Get FASTA)   NCBI Sequence Viewer  
  EAW67447 (Get FASTA)   NCBI Sequence Viewer  
  EAW67448 (Get FASTA)   NCBI Sequence Viewer  
  EAW67449 (Get FASTA)   NCBI Sequence Viewer  
  EAW67450 (Get FASTA)   NCBI Sequence Viewer  
  P08397 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000181   ⟸   NM_000190
- Peptide Label: isoform 1
- UniProtKB: P08397 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001019553   ⟸   NM_001024382
- Peptide Label: isoform 2
- UniProtKB: P08397 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001245138   ⟸   NM_001258209
- Peptide Label: isoform 4
- UniProtKB: P08397 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001245137   ⟸   NM_001258208
- Peptide Label: isoform 3
- UniProtKB: P08397 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005271590   ⟸   XM_005271533
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005271589   ⟸   XM_005271532
- Peptide Label: isoform X1
- UniProtKB: P08397 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005271588   ⟸   XM_005271531
- Peptide Label: isoform X1
- UniProtKB: P08397 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011541098   ⟸   XM_011542796
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016873118   ⟸   XM_017017629
- Peptide Label: isoform X1
- UniProtKB: P08397 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024304228   ⟸   XM_024448460
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000498044   ⟸   ENST00000648026
RefSeq Acc Id: ENSP00000498079   ⟸   ENST00000648488
RefSeq Acc Id: ENSP00000497255   ⟸   ENST00000648374
RefSeq Acc Id: ENSP00000443058   ⟸   ENST00000542729
RefSeq Acc Id: ENSP00000497548   ⟸   ENST00000649868
RefSeq Acc Id: ENSP00000444817   ⟸   ENST00000542822
RefSeq Acc Id: ENSP00000445429   ⟸   ENST00000543090
RefSeq Acc Id: ENSP00000438424   ⟸   ENST00000544387
RefSeq Acc Id: ENSP00000444849   ⟸   ENST00000545621
RefSeq Acc Id: ENSP00000445599   ⟸   ENST00000546302
RefSeq Acc Id: ENSP00000496970   ⟸   ENST00000650101
RefSeq Acc Id: ENSP00000498786   ⟸   ENST00000652429
RefSeq Acc Id: ENSP00000442079   ⟸   ENST00000535253
RefSeq Acc Id: ENSP00000439904   ⟸   ENST00000535793
RefSeq Acc Id: ENSP00000392041   ⟸   ENST00000442944
RefSeq Acc Id: ENSP00000438726   ⟸   ENST00000536813
RefSeq Acc Id: ENSP00000491061   ⟸   ENST00000640813
RefSeq Acc Id: ENSP00000444730   ⟸   ENST00000537841
RefSeq Acc Id: ENSP00000376584   ⟸   ENST00000392841
Protein Domains
Porphobil_deam   Porphobil_deamC

Promoters
RGD ID:6789232
Promoter ID:HG_KWN:14361
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_000190,   UC001PVA.1,   UC001PVB.1,   UC001PVC.1,   UC001PVD.1,   UC001PVE.1,   UC009ZAO.1,   UC009ZAP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,460,609 - 118,461,109 (+)MPROMDB
RGD ID:6849788
Promoter ID:EP26007
Type:initiation region
Name:HS_HMBS_1
Description:Porphobilinogen deaminase housekeeping-type promoter.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP26008  
Tissues & Cell Lines:ubiquitous
Experiment Methods:Nuclease protection; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,460,810 - 118,460,870EPD
RGD ID:6788984
Promoter ID:HG_KWN:14362
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001024382
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,463,591 - 118,464,091 (+)MPROMDB
RGD ID:6849790
Promoter ID:EP26008
Type:single initiation site
Name:HS_HMBS_2
Description:Porphobilinogen deaminase erythroid cell-specific.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 2; site 1.; see alsoEP26007  
Tissues & Cell Lines:erythroid cells
Experiment Methods:Nuclease protection; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,463,906 - 118,463,966EPD
RGD ID:7222375
Promoter ID:EPDNEW_H16933
Type:initiation region
Name:HMBS_1
Description:hydroxymethylbilane synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16934  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,893 - 119,084,953EPDNEW
RGD ID:7222377
Promoter ID:EPDNEW_H16934
Type:initiation region
Name:HMBS_2
Description:hydroxymethylbilane synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16933  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,087,987 - 119,088,047EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) single nucleotide variant Acute intermittent porphyria [RCV001254080]|not provided [RCV000522139] Chr11:119088651 [GRCh38]
Chr11:118959361 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) single nucleotide variant Acute intermittent porphyria [RCV001104610]|not provided [RCV000520884] Chr11:119088707 [GRCh38]
Chr11:118959417 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.33+1G>A single nucleotide variant Porphyria, acute intermittent, nonerythroid variant [RCV000001506] Chr11:119085067 [GRCh38]
Chr11:118955777 [GRCh37]
Chr11:11q23.3
pathogenic
HMBS, EX12DEL deletion Acute intermittent porphyria [RCV000001507] Chr11:11q23.3 pathogenic
NM_000190.4(HMBS):c.77G>A (p.Arg26His) single nucleotide variant Acute intermittent porphyria [RCV000001508]|not provided [RCV000798844] Chr11:119088298 [GRCh38]
Chr11:118959008 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.33+1G>T single nucleotide variant Porphyria, acute intermittent, nonerythroid variant [RCV000001509] Chr11:119085067 [GRCh38]
Chr11:118955777 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) single nucleotide variant Acute intermittent porphyria [RCV000001510]|not provided [RCV001212053] Chr11:119089991 [GRCh38]
Chr11:118960701 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) single nucleotide variant Acute intermittent porphyria [RCV000001511]|not provided [RCV000520560] Chr11:119091414 [GRCh38]
Chr11:118962124 [GRCh37]
Chr11:11q23.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) single nucleotide variant Acute intermittent porphyria [RCV000001512] Chr11:119091432 [GRCh38]
Chr11:118962142 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) single nucleotide variant Acute intermittent porphyria [RCV000001513] Chr11:119090230 [GRCh38]
Chr11:118960940 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) single nucleotide variant Acute intermittent porphyria [RCV000001514] Chr11:119090213 [GRCh38]
Chr11:118960923 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) single nucleotide variant Acute intermittent porphyria [RCV000001515] Chr11:119092486 [GRCh38]
Chr11:118963196 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.900del (p.His300fs) deletion Acute intermittent porphyria [RCV000001516] Chr11:119093009 [GRCh38]
Chr11:118963719 [GRCh37]
Chr11:11q23.3
pathogenic
HMBS, 9-BP DEL, EX10 deletion Acute intermittent porphyria [RCV000001517] Chr11:11q23.3 pathogenic
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) single nucleotide variant Acute intermittent porphyria [RCV000001518] Chr11:119091507 [GRCh38]
Chr11:118962217 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) single nucleotide variant Acute intermittent porphyria [RCV000001519] Chr11:119088638 [GRCh38]
Chr11:118959348 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) single nucleotide variant Acute intermittent porphyria [RCV000001520] Chr11:119088647 [GRCh38]
Chr11:118959357 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) single nucleotide variant Acute intermittent porphyria [RCV000001521]|not provided [RCV000489906] Chr11:119091413 [GRCh38]
Chr11:118962123 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) single nucleotide variant Acute intermittent porphyria [RCV000001522] Chr11:119091414 [GRCh38]
Chr11:118962124 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) single nucleotide variant Acute intermittent porphyria [RCV000001523] Chr11:119089084 [GRCh38]
Chr11:118959794 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.174del (p.Thr59fs) deletion Acute intermittent porphyria [RCV000001524] Chr11:119089094 [GRCh38]
Chr11:118959804 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.181dup (p.Asp61fs) duplication Acute intermittent porphyria [RCV000001525] Chr11:119089098..119089099 [GRCh38]
Chr11:118959808..118959809 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.211-1G>A single nucleotide variant Acute intermittent porphyria [RCV000001526] Chr11:119089216 [GRCh38]
Chr11:118959926 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) single nucleotide variant Acute intermittent porphyria [RCV000001527]|not provided [RCV000432186] Chr11:119091515 [GRCh38]
Chr11:118962225 [GRCh37]
Chr11:11q23.3
pathogenic|likely pathogenic
HMBS, 2-BP DEL, 218AG deletion Acute intermittent porphyria [RCV000001528] Chr11:11q23.3 pathogenic
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) single nucleotide variant Acute intermittent porphyria [RCV000001529]|not provided [RCV001381874] Chr11:119089747 [GRCh38]
Chr11:118960457 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.499-1G>A single nucleotide variant Acute intermittent porphyria [RCV000001530]|not provided [RCV001389654] Chr11:119091412 [GRCh38]
Chr11:118962122 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) single nucleotide variant Acute intermittent porphyria [RCV000001531]|not provided [RCV000795368] Chr11:119091444 [GRCh38]
Chr11:118962154 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) single nucleotide variant Acute intermittent porphyria [RCV000001532]|not provided [RCV001209137] Chr11:119092419 [GRCh38]
Chr11:118963129 [GRCh37]
Chr11:11q23.3
pathogenic|likely pathogenic|uncertain significance
NM_000190.4(HMBS):c.730_731del (p.Leu244fs) microsatellite Acute intermittent porphyria [RCV000001533]|not provided [RCV001389655] Chr11:119092480..119092481 [GRCh38]
Chr11:118963190..118963191 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) single nucleotide variant Acute intermittent porphyria [RCV000001534] Chr11:119092491 [GRCh38]
Chr11:118963201 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs) duplication Acute intermittent porphyria [RCV000001535] Chr11:119092481..119092482 [GRCh38]
Chr11:118963191..118963192 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) single nucleotide variant Acute intermittent porphyria [RCV000001536] Chr11:119092500 [GRCh38]
Chr11:118963210 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) single nucleotide variant Acute intermittent porphyria [RCV000001537] Chr11:119092506 [GRCh38]
Chr11:118963216 [GRCh37]
Chr11:11q23.3
pathogenic|uncertain significance
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) single nucleotide variant Acute intermittent porphyria [RCV000001538] Chr11:119092507 [GRCh38]
Chr11:118963217 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.766C>A (p.His256Asn) single nucleotide variant Acute intermittent porphyria [RCV000001539] Chr11:119092518 [GRCh38]
Chr11:118963228 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.771+1G>C single nucleotide variant Acute intermittent porphyria [RCV000001540] Chr11:119092524 [GRCh38]
Chr11:118963234 [GRCh37]
Chr11:11q23.3
pathogenic
HMBS, IVS14DS, G-A, +1 single nucleotide variant Acute intermittent porphyria [RCV000001541] Chr11:11q23.3 pathogenic
NM_000190.4(HMBS):c.266+1G>C single nucleotide variant Acute intermittent porphyria [RCV000001542] Chr11:119089273 [GRCh38]
Chr11:118959983 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) single nucleotide variant Acute intermittent porphyria [RCV000001543] Chr11:119092159 [GRCh38]
Chr11:118962869 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.847_848del (p.Trp283fs) deletion Acute intermittent porphyria [RCV000001544] Chr11:119092956..119092957 [GRCh38]
Chr11:118963666..118963667 [GRCh37]
Chr11:11q23.3
pathogenic
HMBS, ALU INS insertion Acute intermittent porphyria [RCV000001545] Chr11:11q23.3 pathogenic
HMBS, 1-BP DEL, -154G deletion Porphyria, acute intermittent, nonerythroid variant [RCV000001546] Chr11:11q23.3 pathogenic
NM_000190.4(HMBS):c.41del (p.Asn14fs) deletion Porphyria, acute intermittent, nonerythroid variant [RCV000001547] Chr11:119088259 [GRCh38]
Chr11:118958969 [GRCh37]
Chr11:11q23.3
pathogenic|likely pathogenic
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) single nucleotide variant Acute intermittent porphyria [RCV000001548]|not provided [RCV000418446] Chr11:119092958 [GRCh38]
Chr11:118963668 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.1A>G (p.Met1Val) single nucleotide variant Porphyria, acute intermittent, nonerythroid variant [RCV000001549] Chr11:119085034 [GRCh38]
Chr11:118955744 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.242T>C (p.Leu81Pro) single nucleotide variant Acute intermittent porphyria [RCV000001550] Chr11:119089248 [GRCh38]
Chr11:118959958 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) single nucleotide variant Acute intermittent porphyria [RCV000001551]|not provided [RCV001389642] Chr11:119090212 [GRCh38]
Chr11:118960922 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs) deletion Acute intermittent porphyria [RCV000664186] Chr11:119093274..119093328 [GRCh38]
Chr11:118963984..118964038 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) single nucleotide variant Acute intermittent porphyria [RCV000148507]|not provided [RCV001356682] Chr11:119093272 [GRCh38]
Chr11:118963982 [GRCh37]
Chr11:11q23.3
benign|likely benign|uncertain significance
NM_000190.4(HMBS):c.962G>A (p.Arg321His) single nucleotide variant Acute intermittent porphyria [RCV000148508]|not provided [RCV000730694] Chr11:119093159 [GRCh38]
Chr11:118963869 [GRCh37]
Chr11:11q23.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) single nucleotide variant Acute intermittent porphyria [RCV000148509]|not provided [RCV001041963] Chr11:119091497 [GRCh38]
Chr11:118962207 [GRCh37]
Chr11:11q23.3
pathogenic|likely pathogenic
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) single nucleotide variant Acute intermittent porphyria [RCV000148510]|not provided [RCV001514054] Chr11:119089263 [GRCh38]
Chr11:118959973 [GRCh37]
Chr11:11q23.3
benign|likely benign|uncertain significance
NM_000190.4(HMBS):c.674G>A (p.Arg225Gln) single nucleotide variant Acute intermittent porphyria [RCV000148511]|not provided [RCV000498317] Chr11:119092426 [GRCh38]
Chr11:118963136 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.427G>A (p.Val143Met) single nucleotide variant Inborn genetic diseases [RCV000190761] Chr11:119090194 [GRCh38]
Chr11:118960904 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.275T>C (p.Leu92Pro) single nucleotide variant Acute intermittent porphyria [RCV001332261] Chr11:119089691 [GRCh38]
Chr11:118960401 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.826-2A>T single nucleotide variant Acute intermittent porphyria [RCV001332263] Chr11:119092933 [GRCh38]
Chr11:118963643 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3 copy number gain See cases [RCV000137489] Chr11:118933083..119215291 [GRCh38]
Chr11:118803792..119086001 [GRCh37]
Chr11:118309002..118591211 [NCBI36]
Chr11:11q23.3
likely benign
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000190.4(HMBS):c.771G>A (p.Leu257=) single nucleotide variant not provided [RCV000578508] Chr11:119092523 [GRCh38]
Chr11:118963233 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del) deletion Acute intermittent porphyria [RCV000625717] Chr11:119092417..119092446 [GRCh38]
Chr11:118963127..118963156 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.606G>T (p.Val202=) single nucleotide variant Acute intermittent porphyria [RCV000262555]|Congenital disorder of glycosylation [RCV000402560]|not provided [RCV001510018]|not specified [RCV000243574] Chr11:119091520 [GRCh38]
Chr11:118962230 [GRCh37]
Chr11:11q23.3
benign|likely benign
NM_000190.4(HMBS):c.88-14G>A single nucleotide variant Acute intermittent porphyria [RCV000403932]|not provided [RCV001518456]|not specified [RCV000253501] Chr11:119088621 [GRCh38]
Chr11:118959331 [GRCh37]
Chr11:11q23.3
benign
NM_000190.3(HMBS):c.-235T>A single nucleotide variant not specified [RCV000251594] Chr11:119084799 [GRCh38]
Chr11:118955509 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.737G>A (p.Arg246His) single nucleotide variant Acute intermittent porphyria [RCV000764956]|not provided [RCV000521233] Chr11:119092489 [GRCh38]
Chr11:118963199 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.613-19C>A single nucleotide variant Acute intermittent porphyria [RCV000606962]|not provided [RCV001518603]|not specified [RCV000248316] Chr11:119092106 [GRCh38]
Chr11:118962816 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.345-9C>T single nucleotide variant Acute intermittent porphyria [RCV000368824] Chr11:119089981 [GRCh38]
Chr11:118960691 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.1026G>A (p.Leu342=) single nucleotide variant Acute intermittent porphyria [RCV000322175]|not provided [RCV000910009] Chr11:119093223 [GRCh38]
Chr11:118963933 [GRCh37]
Chr11:11q23.3
likely benign|uncertain significance
NM_000190.4(HMBS):c.-65C>T single nucleotide variant Acute intermittent porphyria [RCV000283859] Chr11:119084969 [GRCh38]
Chr11:118955679 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.*101G>A single nucleotide variant Acute intermittent porphyria [RCV000291325] Chr11:119093384 [GRCh38]
Chr11:118964094 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.717C>T (p.His239=) single nucleotide variant Acute intermittent porphyria [RCV000261203]|not provided [RCV000896143] Chr11:119092469 [GRCh38]
Chr11:118963179 [GRCh37]
Chr11:11q23.3
benign|likely benign
NM_000190.4(HMBS):c.1020C>T (p.Asn340=) single nucleotide variant Acute intermittent porphyria [RCV000264779]|not provided [RCV000896602] Chr11:119093217 [GRCh38]
Chr11:118963927 [GRCh37]
Chr11:11q23.3
benign|uncertain significance
NM_000190.4(HMBS):c.612+4G>A single nucleotide variant Acute intermittent porphyria [RCV000319841]|not provided [RCV001065053] Chr11:119091530 [GRCh38]
Chr11:118962240 [GRCh37]
Chr11:11q23.3
likely benign|uncertain significance
NM_000190.4(HMBS):c.723C>T (p.Pro241=) single nucleotide variant Acute intermittent porphyria [RCV000323412]|not provided [RCV001517487] Chr11:119092475 [GRCh38]
Chr11:118963185 [GRCh37]
Chr11:11q23.3
benign|likely benign
NM_000190.4(HMBS):c.-28A>C single nucleotide variant Acute intermittent porphyria [RCV000345889]|not provided [RCV000923727] Chr11:119085006 [GRCh38]
Chr11:118955716 [GRCh37]
Chr11:11q23.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000190.4(HMBS):c.135G>A (p.Ser45=) single nucleotide variant Acute intermittent porphyria [RCV000370127]|not provided [RCV000909617] Chr11:119088682 [GRCh38]
Chr11:118959392 [GRCh37]
Chr11:11q23.3
benign|uncertain significance
NM_000190.4(HMBS):c.105G>C (p.Thr35=) single nucleotide variant Acute intermittent porphyria [RCV000308478] Chr11:119088652 [GRCh38]
Chr11:118959362 [GRCh37]
Chr11:11q23.3
likely benign|uncertain significance
NM_000190.4(HMBS):c.615C>G (p.Ile205Met) single nucleotide variant Acute intermittent porphyria [RCV000353646] Chr11:119092127 [GRCh38]
Chr11:118962837 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.303C>T (p.Pro101=) single nucleotide variant Acute intermittent porphyria [RCV000311906]|not provided [RCV000903315] Chr11:119089719 [GRCh38]
Chr11:118960429 [GRCh37]
Chr11:11q23.3
benign|likely benign
NM_000190.4(HMBS):c.210+5C>A single nucleotide variant Acute intermittent porphyria [RCV000390553]|not provided [RCV000892159] Chr11:119089136 [GRCh38]
Chr11:118959846 [GRCh37]
Chr11:11q23.3
benign|likely benign
NM_001382.4(DPAGT1):c.*184G>A single nucleotide variant Acute intermittent porphyria [RCV000313130]|Congenital disorder of glycosylation [RCV000404523]|DPAGT1-CDG [RCV001105858] Chr11:119096814 [GRCh38]
Chr11:118967524 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.*94T>C single nucleotide variant Acute intermittent porphyria [RCV000383725] Chr11:119093377 [GRCh38]
Chr11:118964087 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001382.4(DPAGT1):c.*265A>G single nucleotide variant Acute intermittent porphyria [RCV000390794]|Congenital disorder of glycosylation [RCV000337141]|DPAGT1-CDG [RCV001105856] Chr11:119096733 [GRCh38]
Chr11:118967443 [GRCh37]
Chr11:11q23.3
likely benign|uncertain significance
NM_001382.4(DPAGT1):c.*417T>C single nucleotide variant Acute intermittent porphyria [RCV000357296]|Congenital disorder of glycosylation [RCV000352190]|DPAGT1-CDG [RCV001104699] Chr11:119096581 [GRCh38]
Chr11:118967291 [GRCh37]
Chr11:11q23.3
benign
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) single nucleotide variant Acute intermittent porphyria [RCV000332550]|DPAGT1-CDG [RCV000537045]|DPAGT1-CDG [RCV001105862]|not provided [RCV000153164] Chr11:119097475 [GRCh38]
Chr11:118968185 [GRCh37]
Chr11:11q23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001382.4(DPAGT1):c.*159G>A single nucleotide variant Acute intermittent porphyria [RCV000367912]|DPAGT1-CDG [RCV001105859] Chr11:119096839 [GRCh38]
Chr11:118967549 [GRCh37]
Chr11:11q23.3
likely benign|uncertain significance
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) single nucleotide variant Acute intermittent porphyria [RCV000277995]|Congenital disorder of glycosylation [RCV000354528]|DPAGT1-CDG [RCV001105861]|DPAGT1-CDG [RCV001510136]|not specified [RCV000079665] Chr11:119097048 [GRCh38]
Chr11:118967758 [GRCh37]
Chr11:11q23.3
benign
NM_001382.4(DPAGT1):c.*427T>G single nucleotide variant Acute intermittent porphyria [RCV000297727]|Congenital disorder of glycosylation [RCV000294857]|DPAGT1-CDG [RCV001104698] Chr11:119096571 [GRCh38]
Chr11:118967281 [GRCh37]
Chr11:11q23.3
likely benign|uncertain significance
NM_000190.4(HMBS):c.*194A>G single nucleotide variant Acute intermittent porphyria [RCV000343985] Chr11:119093477 [GRCh38]
Chr11:118964187 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) single nucleotide variant Acute intermittent porphyria [RCV000415636] Chr11:119092801 [GRCh38]
Chr11:118963511 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer) deletion Acute intermittent porphyria [RCV001197501]|Vomiting [RCV000415135] Chr11:119090043 [GRCh38]
Chr11:118960753 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.958del (p.Ala320fs) deletion Abdominal pain [RCV000415138] Chr11:119093155 [GRCh38]
Chr11:118963865 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.267-3_267-2del microsatellite not provided [RCV000734620] Chr11:119089678..119089679 [GRCh38]
Chr11:118960388..118960389 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) single nucleotide variant Acute intermittent porphyria [RCV000779045]|not provided [RCV000413917] Chr11:119091446 [GRCh38]
Chr11:118962156 [GRCh37]
Chr11:11q23.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000190.4(HMBS):c.799G>A (p.Val267Met) single nucleotide variant not provided [RCV000430573] Chr11:119092785 [GRCh38]
Chr11:118963495 [GRCh37]
Chr11:11q23.3
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000190.4(HMBS):c.655G>A (p.Ala219Thr) single nucleotide variant not provided [RCV000484759] Chr11:119092407 [GRCh38]
Chr11:118963117 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.211-4del deletion not specified [RCV000487036] Chr11:119089212 [GRCh38]
Chr11:118959922 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.350A>T (p.Glu117Val) single nucleotide variant not provided [RCV000497596] Chr11:119089995 [GRCh38]
Chr11:118960705 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.980C>T (p.Pro327Leu) single nucleotide variant not provided [RCV000494250] Chr11:119093177 [GRCh38]
Chr11:118963887 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000190.4(HMBS):c.33+123_33+135del deletion not provided [RCV000513984] Chr11:119085173..119085185 [GRCh38]
Chr11:118955883..118955895 [GRCh37]
Chr11:11q23.3
likely benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu) single nucleotide variant Acute intermittent porphyria [RCV001102686]|not specified [RCV000605528] Chr11:119085059 [GRCh38]
Chr11:118955769 [GRCh37]
Chr11:11q23.3
likely benign|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.535del (p.Glu179fs) deletion Abnormality of the heme biosynthetic pathway [RCV001003599] Chr11:119091449 [GRCh38]
Chr11:118962159 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000190.4(HMBS):c.161-60C>T single nucleotide variant not provided [RCV001541459] Chr11:119089022 [GRCh38]
Chr11:118959732 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.891dup (p.Thr298fs) duplication Acute intermittent porphyria [RCV000755705] Chr11:119092999..119093000 [GRCh38]
Chr11:118963709..118963710 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.534C>T (p.Asp178=) single nucleotide variant not provided [RCV000922927] Chr11:119091448 [GRCh38]
Chr11:118962158 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.135G>C (p.Ser45=) single nucleotide variant not provided [RCV000982229] Chr11:119088682 [GRCh38]
Chr11:118959392 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.267-56_267-49del deletion not provided [RCV000927575] Chr11:119089622..119089629 [GRCh38]
Chr11:118960332..118960339 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.609G>A (p.Gly203=) single nucleotide variant not provided [RCV000904413] Chr11:119091523 [GRCh38]
Chr11:118962233 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.1053G>A (p.Leu351=) single nucleotide variant not provided [RCV000880462] Chr11:119093250 [GRCh38]
Chr11:118963960 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.161-1G>C single nucleotide variant not provided [RCV001045295] Chr11:119089081 [GRCh38]
Chr11:118959791 [GRCh37]
Chr11:11q23.3
pathogenic
NC_000011.10:g.(?_119091400)_(119093560_?)del deletion not provided [RCV001031972] Chr11:118962110..118964270 [GRCh37]
Chr11:11q23.3
likely pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.771+2T>C single nucleotide variant not provided [RCV001043485] Chr11:119092525 [GRCh38]
Chr11:118963235 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000190.4(HMBS):c.623_624del (p.Pro208fs) deletion not provided [RCV000806788] Chr11:119092135..119092136 [GRCh38]
Chr11:118962845..118962846 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.132C>T (p.Ala44=) single nucleotide variant not provided [RCV000897064] Chr11:119088679 [GRCh38]
Chr11:118959389 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.160+5G>C single nucleotide variant Acute intermittent porphyria [RCV000855547] Chr11:119088712 [GRCh38]
Chr11:118959422 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.285C>T (p.His95=) single nucleotide variant not provided [RCV000929894] Chr11:119089701 [GRCh38]
Chr11:118960411 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.195T>C (p.Asp65=) single nucleotide variant not provided [RCV000919432] Chr11:119089116 [GRCh38]
Chr11:118959826 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.-103C>T single nucleotide variant not provided [RCV000927578] Chr11:119084931 [GRCh38]
Chr11:118955641 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.258G>A (p.Glu86=) single nucleotide variant not provided [RCV000897924] Chr11:119089264 [GRCh38]
Chr11:118959974 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.662G>A (p.Gly221Asp) single nucleotide variant not provided [RCV000822584] Chr11:119092414 [GRCh38]
Chr11:118963124 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.323del (p.Phe108fs) deletion not provided [RCV000813830] Chr11:119089738 [GRCh38]
Chr11:118960448 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.168_169del (p.Met56fs) deletion not provided [RCV000797501] Chr11:119089088..119089089 [GRCh38]
Chr11:118959798..118959799 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.33G>C (p.Ala11=) single nucleotide variant not provided [RCV000793790] Chr11:119085066 [GRCh38]
Chr11:118955776 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) single nucleotide variant not provided [RCV000799514] Chr11:119088297 [GRCh38]
Chr11:118959007 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.612+1G>A single nucleotide variant not provided [RCV000799557] Chr11:119091527 [GRCh38]
Chr11:118962237 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.77G>T (p.Arg26Leu) single nucleotide variant not provided [RCV000824246] Chr11:119088298 [GRCh38]
Chr11:118959008 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.719A>G (p.Asp240Gly) single nucleotide variant not provided [RCV000791929] Chr11:119092471 [GRCh38]
Chr11:118963181 [GRCh37]
Chr11:11q23.3
pathogenic|likely pathogenic
NM_000190.4(HMBS):c.345-1G>A single nucleotide variant not provided [RCV000822122] Chr11:119089989 [GRCh38]
Chr11:118960699 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) single nucleotide variant Acute intermittent porphyria [RCV001198558]|not provided [RCV000804261] Chr11:119091431 [GRCh38]
Chr11:118962141 [GRCh37]
Chr11:11q23.3
pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.1057G>A (p.Val353Ile) single nucleotide variant not provided [RCV000815951] Chr11:119093254 [GRCh38]
Chr11:118963964 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000190.4(HMBS):c.612G>T (p.Gln204His) single nucleotide variant not provided [RCV000807846] Chr11:119091526 [GRCh38]
Chr11:118962236 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.299T>C (p.Leu100Pro) single nucleotide variant not provided [RCV000814222] Chr11:119089715 [GRCh38]
Chr11:118960425 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.992C>T (p.Ala331Val) single nucleotide variant Acute intermittent porphyria [RCV001535464]|not provided [RCV001056204] Chr11:119093189 [GRCh38]
Chr11:118963899 [GRCh37]
Chr11:11q23.3
uncertain significance|not provided
NM_000190.4(HMBS):c.716del (p.His239fs) deletion not provided [RCV000794226] Chr11:119092468 [GRCh38]
Chr11:118963178 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.219_220del (p.Ser75fs) microsatellite not provided [RCV000809200] Chr11:119089221..119089222 [GRCh38]
Chr11:118959931..118959932 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.1084del (p.Ter362AsnextTer?) deletion not provided [RCV000794802] Chr11:119093280 [GRCh38]
Chr11:118963990 [GRCh37]
Chr11:11q23.3
pathogenic|likely pathogenic
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser) single nucleotide variant Acute intermittent porphyria [RCV000850508] Chr11:119092407 [GRCh38]
Chr11:118963117 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.673C>T (p.Arg225Ter) single nucleotide variant not provided [RCV000796426] Chr11:119092425 [GRCh38]
Chr11:118963135 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) single nucleotide variant not provided [RCV000807669] Chr11:119092983 [GRCh38]
Chr11:118963693 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.457C>T (p.Gln153Ter) single nucleotide variant not provided [RCV000807732] Chr11:119090224 [GRCh38]
Chr11:118960934 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) single nucleotide variant Acute intermittent porphyria [RCV001107356]|not provided [RCV000799967] Chr11:119089992 [GRCh38]
Chr11:118960702 [GRCh37]
Chr11:11q23.3
likely pathogenic|uncertain significance
NM_000190.4(HMBS):c.544dup (p.Glu182fs) duplication not provided [RCV000814281] Chr11:119091456..119091457 [GRCh38]
Chr11:118962166..118962167 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.636G>A (p.Met212Ile) single nucleotide variant not provided [RCV001056264] Chr11:119092148 [GRCh38]
Chr11:118962858 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Immunodeficiency 17 [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28, autosomal recessive [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.913-2A>G single nucleotide variant not provided [RCV001060553] Chr11:119093108 [GRCh38]
Chr11:118963818 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.940_941del (p.Gln314fs) microsatellite not provided [RCV001229602] Chr11:119093135..119093136 [GRCh38]
Chr11:118963845..118963846 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.913-1G>C single nucleotide variant not provided [RCV001247826] Chr11:119093109 [GRCh38]
Chr11:118963819 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.186G>C (p.Lys62Asn) single nucleotide variant Acute intermittent porphyria [RCV001253215]|not provided [RCV001214092] Chr11:119089107 [GRCh38]
Chr11:118959817 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.652-2del deletion not provided [RCV001234837] Chr11:119092402 [GRCh38]
Chr11:118963112 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.207dup (p.Lys70Ter) duplication not provided [RCV001210087] Chr11:119089127..119089128 [GRCh38]
Chr11:118959837..118959838 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.61A>T (p.Ile21Phe) single nucleotide variant not provided [RCV001218766] Chr11:119088282 [GRCh38]
Chr11:118958992 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.613-1G>A single nucleotide variant Acute intermittent porphyria [RCV001198011] Chr11:119092124 [GRCh38]
Chr11:118962834 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.654G>A (p.Gly218=) single nucleotide variant Acute intermittent porphyria [RCV001107357] Chr11:119092406 [GRCh38]
Chr11:118963116 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.30G>A (p.Thr10=) single nucleotide variant not provided [RCV000932376] Chr11:119085063 [GRCh38]
Chr11:118955773 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.772-17A>G single nucleotide variant not provided [RCV000941486] Chr11:119092741 [GRCh38]
Chr11:118963451 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.134C>T (p.Ser45Leu) single nucleotide variant Acute intermittent porphyria [RCV001104609]|not provided [RCV000888463] Chr11:119088681 [GRCh38]
Chr11:118959391 [GRCh37]
Chr11:11q23.3
benign|likely benign
NM_000190.4(HMBS):c.477G>A (p.Pro159=) single nucleotide variant not provided [RCV000901905] Chr11:119090244 [GRCh38]
Chr11:118960954 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.330C>T (p.Ile110=) single nucleotide variant not provided [RCV000888959] Chr11:119089746 [GRCh38]
Chr11:118960456 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.210_210+5delinsT indel not provided [RCV001243098] Chr11:119089131..119089136 [GRCh38]
Chr11:118959841..118959846 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.723C>G (p.Pro241=) single nucleotide variant Acute intermittent porphyria [RCV001107358] Chr11:119092475 [GRCh38]
Chr11:118963185 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.223dup (p.Ser75fs) duplication not provided [RCV001227262] Chr11:119089225..119089226 [GRCh38]
Chr11:118959935..118959936 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.239A>G (p.Glu80Gly) single nucleotide variant not provided [RCV001054754] Chr11:119089245 [GRCh38]
Chr11:118959955 [GRCh37]
Chr11:11q23.3
likely pathogenic
NC_000011.10:g.(?_119088234)_(119093560_?)del deletion not provided [RCV001031341] Chr11:118958944..118964270 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.663C>T (p.Gly221=) single nucleotide variant not provided [RCV000957010] Chr11:119092415 [GRCh38]
Chr11:118963125 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.345-10C>T single nucleotide variant not provided [RCV000912453] Chr11:119089980 [GRCh38]
Chr11:118960690 [GRCh37]
Chr11:11q23.3
likely benign
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro) single nucleotide variant Acute intermittent porphyria [RCV001171316] Chr11:119090009 [GRCh38]
Chr11:118960719 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.798C>T (p.Ala266=) single nucleotide variant Acute intermittent porphyria [RCV001108006] Chr11:119092784 [GRCh38]
Chr11:118963494 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.889G>T (p.Ala297Ser) single nucleotide variant Acute intermittent porphyria [RCV001108008] Chr11:119092998 [GRCh38]
Chr11:118963708 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser) single nucleotide variant Acute intermittent porphyria [RCV001108009] Chr11:119093122 [GRCh38]
Chr11:118963832 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.974G>A (p.Arg325Gln) single nucleotide variant Acute intermittent porphyria [RCV001102782] Chr11:119093171 [GRCh38]
Chr11:118963881 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.*153G>A single nucleotide variant Acute intermittent porphyria [RCV001102783] Chr11:119093436 [GRCh38]
Chr11:118964146 [GRCh37]
Chr11:11q23.3
uncertain significance
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
NM_000190.4(HMBS):c.651+2T>C single nucleotide variant not provided [RCV001214697] Chr11:119092165 [GRCh38]
Chr11:118962875 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.706G>A (p.Gly236Ser) single nucleotide variant not provided [RCV001048773] Chr11:119092458 [GRCh38]
Chr11:118963168 [GRCh37]
Chr11:11q23.3
likely pathogenic
NM_000190.4(HMBS):c.613-1G>T single nucleotide variant not provided [RCV001048960] Chr11:119092124 [GRCh38]
Chr11:118962834 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.13G>A (p.Gly5Ser) single nucleotide variant Acute intermittent porphyria [RCV001198784] Chr11:119085046 [GRCh38]
Chr11:118955756 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.839G>A (p.Gly280Glu) single nucleotide variant not provided [RCV001042800] Chr11:119092948 [GRCh38]
Chr11:118963658 [GRCh37]
Chr11:11q23.3
pathogenic|likely pathogenic
NC_000011.9:g.(?_118895600)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031316] Chr11:118895600..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.753G>T (p.Arg251Ser) single nucleotide variant not provided [RCV001216096] Chr11:119092505 [GRCh38]
Chr11:118963215 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.768C>A (p.His256Gln) single nucleotide variant Acute intermittent porphyria [RCV001108005] Chr11:119092520 [GRCh38]
Chr11:118963230 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.885G>A (p.Met295Ile) single nucleotide variant Acute intermittent porphyria [RCV001108007] Chr11:119092994 [GRCh38]
Chr11:118963704 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.913-8T>G single nucleotide variant not provided [RCV001245799] Chr11:119093102 [GRCh38]
Chr11:118963812 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.10:g.(?_119084613)_(119085735_?)del deletion not provided [RCV001031698] Chr11:118955323..118956445 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.33+2T>G single nucleotide variant not provided [RCV001214889] Chr11:119085068 [GRCh38]
Chr11:118955778 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.77G>C (p.Arg26Pro) single nucleotide variant not provided [RCV001216002] Chr11:119088298 [GRCh38]
Chr11:118959008 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.982_994del (p.Gln328fs) deletion not provided [RCV001214808] Chr11:119093175..119093187 [GRCh38]
Chr11:118963885..118963897 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.671T>C (p.Val224Ala) single nucleotide variant Anxiety [RCV001332262] Chr11:119092423 [GRCh38]
Chr11:118963133 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 17 [RCV001313154]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28, autosomal recessive [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.651+3A>G single nucleotide variant not provided [RCV001297646] Chr11:119092166 [GRCh38]
Chr11:118962876 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.287C>A (p.Ser96Tyr) single nucleotide variant not provided [RCV001362571] Chr11:119089703 [GRCh38]
Chr11:118960413 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.380C>A (p.Pro127Gln) single nucleotide variant not provided [RCV001355467] Chr11:119090025 [GRCh38]
Chr11:118960735 [GRCh37]
Chr11:11q23.3
likely benign|uncertain significance
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.926C>G (p.Pro309Arg) single nucleotide variant not provided [RCV001307970] Chr11:119093123 [GRCh38]
Chr11:118963833 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.193G>C (p.Asp65His) single nucleotide variant not provided [RCV001340297] Chr11:119089114 [GRCh38]
Chr11:118959824 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.502_503delinsAA (p.Gly168Lys) indel not provided [RCV001369631] Chr11:119091416..119091417 [GRCh38]
Chr11:118962126..118962127 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_000190.4(HMBS):c.148C>T (p.Gln50Ter) single nucleotide variant not provided [RCV001389643] Chr11:119088695 [GRCh38]
Chr11:118959405 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.912+2T>C single nucleotide variant not provided [RCV001389656] Chr11:119093023 [GRCh38]
Chr11:118963733 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.866_869dup (p.Ser290delinsArgTer) duplication not provided [RCV001390086] Chr11:119092972..119092973 [GRCh38]
Chr11:118963682..118963683 [GRCh37]
Chr11:11q23.3
pathogenic
NC_000011.9:g.118955314G>A single nucleotide variant not provided [RCV001518455] Chr11:119084604 [GRCh38]
Chr11:118955314 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.613-31A>G single nucleotide variant not provided [RCV001522042] Chr11:119092094 [GRCh38]
Chr11:118962804 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.713T>C (p.Leu238Pro) single nucleotide variant not provided [RCV001387139] Chr11:119092465 [GRCh38]
Chr11:118963175 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.423-1G>A single nucleotide variant not provided [RCV001387320] Chr11:119090189 [GRCh38]
Chr11:118960899 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.982_983del (p.Gln328fs) deletion not provided [RCV001384054] Chr11:119093179..119093180 [GRCh38]
Chr11:118963889..118963890 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.562del (p.Leu188fs) deletion not provided [RCV001386727] Chr11:119091475 [GRCh38]
Chr11:118962185 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.963dup (p.Asn322Ter) duplication not provided [RCV001382069] Chr11:119093159..119093160 [GRCh38]
Chr11:118963869..118963870 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) single nucleotide variant not provided [RCV001382070] Chr11:119093170 [GRCh38]
Chr11:118963880 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.912+19G>A single nucleotide variant not provided [RCV001512432] Chr11:119093040 [GRCh38]
Chr11:118963750 [GRCh37]
Chr11:11q23.3
benign
NM_000190.4(HMBS):c.124T>C (p.Leu42=) single nucleotide variant not provided [RCV001466733] Chr11:119088671 [GRCh38]
Chr11:118959381 [GRCh37]
Chr11:11q23.3
likely benign
NM_000190.4(HMBS):c.57_58del (p.Arg19fs) microsatellite not provided [RCV001386765] Chr11:119088275..119088276 [GRCh38]
Chr11:118958985..118958986 [GRCh37]
Chr11:11q23.3
pathogenic
NM_000190.4(HMBS):c.655G>C (p.Ala219Pro) single nucleotide variant not provided [RCV001379269] Chr11:119092407 [GRCh38]
Chr11:118963117 [GRCh37]
Chr11:11q23.3
likely pathogenic
NC_000011.9:g.118955323G>A single nucleotide variant not provided [RCV001512433] Chr11:119084613 [GRCh38]
Chr11:118955323 [GRCh37]
Chr11:11q23.3
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4982 AgrOrtholog
COSMIC HMBS COSMIC
Ensembl Genes ENSG00000256269 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000376584 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392041 UniProtKB/TrEMBL
  ENSP00000438424 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000438726 UniProtKB/TrEMBL
  ENSP00000439904 UniProtKB/TrEMBL
  ENSP00000442079 UniProtKB/TrEMBL
  ENSP00000443058 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444730 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444817 UniProtKB/TrEMBL
  ENSP00000444849 UniProtKB/TrEMBL
  ENSP00000445429 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000445599 UniProtKB/TrEMBL
  ENSP00000491061 UniProtKB/TrEMBL
  ENSP00000496970 UniProtKB/TrEMBL
  ENSP00000497255 UniProtKB/Swiss-Prot
  ENSP00000497548 UniProtKB/TrEMBL
  ENSP00000498044 UniProtKB/TrEMBL
  ENSP00000498079 UniProtKB/TrEMBL
  ENSP00000498786 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000392841 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000442944 UniProtKB/TrEMBL
  ENST00000535253 UniProtKB/TrEMBL
  ENST00000535793 UniProtKB/TrEMBL
  ENST00000536813 UniProtKB/TrEMBL
  ENST00000537841 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000542729 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000542822 UniProtKB/TrEMBL
  ENST00000543090 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000544387 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000545621 UniProtKB/TrEMBL
  ENST00000546302 UniProtKB/TrEMBL
  ENST00000640813 UniProtKB/TrEMBL
  ENST00000648026 UniProtKB/TrEMBL
  ENST00000648374 UniProtKB/Swiss-Prot
  ENST00000648488 UniProtKB/TrEMBL
  ENST00000649868 UniProtKB/TrEMBL
  ENST00000650101 UniProtKB/TrEMBL
  ENST00000652429 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.160.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000256269 GTEx
HGNC ID HGNC:4982 ENTREZGENE
Human Proteome Map HMBS Human Proteome Map
InterPro HemC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilin_deaminase_cofac_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilin_deaminase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilinogen_deaminase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilinogen_deaminase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3145 UniProtKB/Swiss-Prot
NCBI Gene 3145 ENTREZGENE
OMIM 176000 OMIM
  609806 OMIM
PANTHER PTHR11557 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Porphobil_deam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobil_deamC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29317 PharmGKB
PIRSF 4pyrrol_synth_OHMeBilane_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS PORPHBDMNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PORPHOBILINOGEN_DEAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54782 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs hemC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PNU5_HUMAN UniProtKB/TrEMBL
  A0A3B3IRR1_HUMAN UniProtKB/TrEMBL
  A0A3B3IT17_HUMAN UniProtKB/TrEMBL
  A0A3B3IU34_HUMAN UniProtKB/TrEMBL
  A0A3B3IU56_HUMAN UniProtKB/TrEMBL
  A0A3F2YNY7_HUMAN UniProtKB/TrEMBL
  B5U9V4_HUMAN UniProtKB/TrEMBL
  F1DBF3_HUMAN UniProtKB/TrEMBL
  F5GY90_HUMAN UniProtKB/TrEMBL
  F5H0P4_HUMAN UniProtKB/TrEMBL
  F5H226_HUMAN UniProtKB/TrEMBL
  F5H345_HUMAN UniProtKB/TrEMBL
  F5H4W5_HUMAN UniProtKB/TrEMBL
  F5H4X2_HUMAN UniProtKB/TrEMBL
  F5H4Y7_HUMAN UniProtKB/TrEMBL
  HEM3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q0G847_HUMAN UniProtKB/TrEMBL
  X5FSX0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K2L0 UniProtKB/Swiss-Prot
  G3V1P4 UniProtKB/Swiss-Prot
  G5EA58 UniProtKB/Swiss-Prot
  P08396 UniProtKB/Swiss-Prot
  Q16012 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 HMBS  hydroxymethylbilane synthase  PORC  porphyria, acute; Chester type  Data Merged 737654 PROVISIONAL