DHPS (deoxyhypusine synthase) - Rat Genome Database

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Gene: DHPS (deoxyhypusine synthase) Homo sapiens
Analyze
Symbol: DHPS
Name: deoxyhypusine synthase
RGD ID: 1602903
HGNC Page HGNC:2869
Description: Enables deoxyhypusine synthase activity and identical protein binding activity. Involved in peptidyl-lysine modification to peptidyl-hypusine and spermidine metabolic process. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DHS; DS; MIG13; migration-inducing gene 13; NEDSSWI
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
GRCh381912,672,470 - 12,681,880 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1912,675,717 - 12,681,880 (-)EnsemblGRCh38hg38GRCh38
GRCh371912,783,284 - 12,792,694 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,647,534 - 12,653,677 (-)NCBINCBI36Build 36hg18NCBI36
Celera1912,676,248 - 12,682,391 (-)NCBICelera
Cytogenetic Map19p13.13NCBI
HuRef1912,359,566 - 12,365,756 (-)NCBIHuRef
CHM1_11912,787,036 - 12,793,200 (-)NCBICHM1_1
T2T-CHM13v2.01912,796,968 - 12,806,380 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA)
cytosol  (IEA,ISO,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7673224   PMID:7750572   PMID:7929297   PMID:8549832   PMID:8615810   PMID:8619474   PMID:8812510   PMID:9110174   PMID:9188485   PMID:9493264   PMID:9666110   PMID:10229683  
PMID:12477932   PMID:12562768   PMID:12788913   PMID:14622290   PMID:14749535   PMID:15100216   PMID:15489334   PMID:16159877   PMID:16189514   PMID:16344560   PMID:16452303   PMID:17207965  
PMID:17353931   PMID:17476569   PMID:19055622   PMID:19060904   PMID:19997760   PMID:20439316   PMID:21873635   PMID:22491477   PMID:22863883   PMID:22927971   PMID:23525104   PMID:23602568  
PMID:24722188   PMID:25184681   PMID:25416956   PMID:25511211   PMID:25852190   PMID:26186194   PMID:26496610   PMID:27041563   PMID:27107014   PMID:27173435   PMID:27432908   PMID:27684187  
PMID:27880917   PMID:28514442   PMID:28675297   PMID:29229926   PMID:29778605   PMID:30661771   PMID:30884312   PMID:31558321   PMID:31753913   PMID:31980649   PMID:32235505   PMID:32296183  
PMID:32707033   PMID:33187986   PMID:33462405   PMID:33853758   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34591612   PMID:34709727   PMID:34761192   PMID:34947982  
PMID:35563538   PMID:35831314   PMID:36180891   PMID:36215168   PMID:36736316   PMID:36973244   PMID:37167062   PMID:37333770   PMID:37689310   PMID:37925109  


Genomics

Comparative Map Data
DHPS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381912,672,470 - 12,681,880 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1912,675,717 - 12,681,880 (-)EnsemblGRCh38hg38GRCh38
GRCh371912,783,284 - 12,792,694 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,647,534 - 12,653,677 (-)NCBINCBI36Build 36hg18NCBI36
Celera1912,676,248 - 12,682,391 (-)NCBICelera
Cytogenetic Map19p13.13NCBI
HuRef1912,359,566 - 12,365,756 (-)NCBIHuRef
CHM1_11912,787,036 - 12,793,200 (-)NCBICHM1_1
T2T-CHM13v2.01912,796,968 - 12,806,380 (-)NCBIT2T-CHM13v2.0
Dhps
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,798,106 - 85,801,790 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl885,798,386 - 85,801,791 (+)EnsemblGRCm39 Ensembl
GRCm38885,071,486 - 85,075,162 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl885,071,757 - 85,075,162 (+)EnsemblGRCm38mm10GRCm38
MGSCv37887,595,656 - 87,599,060 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36887,961,862 - 87,965,266 (+)NCBIMGSCv36mm8
Celera889,366,364 - 89,369,644 (+)NCBICelera
Cytogenetic Map8C3NCBI
cM Map841.55NCBI
Dhps
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81939,987,328 - 39,991,418 (-)NCBIGRCr8
mRatBN7.21923,082,454 - 23,086,544 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1923,082,448 - 23,086,881 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1929,905,069 - 29,909,151 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01930,559,433 - 30,563,515 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01932,782,114 - 32,786,200 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01926,184,665 - 26,188,755 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1926,184,545 - 26,188,832 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01937,160,288 - 37,164,378 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41924,738,740 - 24,742,830 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11924,743,565 - 24,747,656 (-)NCBI
Celera1922,640,425 - 22,644,511 (-)NCBICelera
Cytogenetic Map19q11NCBI
Dhps
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541531,778,632 - 31,782,782 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541531,778,632 - 31,782,782 (-)NCBIChiLan1.0ChiLan1.0
DHPS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22017,604,659 - 17,612,268 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11916,605,230 - 16,611,491 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01912,237,882 - 12,243,903 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11912,983,106 - 12,989,192 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1912,983,106 - 12,989,193 (-)Ensemblpanpan1.1panPan2
DHPS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12049,435,956 - 49,439,493 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2049,435,844 - 49,439,479 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2049,309,361 - 49,313,081 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02049,954,447 - 49,958,167 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2049,954,522 - 49,958,162 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12049,165,254 - 49,168,975 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02049,591,998 - 49,595,718 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02049,834,305 - 49,838,028 (+)NCBIUU_Cfam_GSD_1.0
Dhps
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118208,544,583 - 208,551,128 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366591,800,942 - 1,810,224 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366591,803,581 - 1,810,121 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DHPS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl266,303,370 - 66,307,769 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1266,303,375 - 66,307,773 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2266,682,620 - 66,686,964 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DHPS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1611,364,192 - 11,370,485 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl611,362,752 - 11,370,370 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660748,427,013 - 8,433,317 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dhps
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624901315,096 - 319,380 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624901315,096 - 319,411 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DHPS
50 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1 copy number loss See cases [RCV000141814] Chr19:12357905..12768046 [GRCh38]
Chr19:12468719..12878860 [GRCh37]
Chr19:12329719..12739860 [NCBI36]
Chr19:19p13.2-13.13		 uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) single nucleotide variant DHPS-related disorder [RCV003403569]|Neurodevelopmental disorder with seizures and speech and walking impairment [RCV000786000]|not provided [RCV000754487] Chr19:12679696 [GRCh38]
Chr19:12790510 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|uncertain significance
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) deletion DHPS-related disorder [RCV003420196]|Neurodevelopmental disorder with seizures and speech and walking impairment [RCV000786002]|not provided [RCV000754488] Chr19:12676114..12676119 [GRCh38]
Chr19:12786928..12786933 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_001930.4(DHPS):c.1014+1G>A single nucleotide variant Neurodevelopmental disorder with seizures and speech and walking impairment [RCV000786001]|not provided [RCV000754489] Chr19:12676016 [GRCh38]
Chr19:12786830 [GRCh37]
Chr19:19p13.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001930.4(DHPS):c.1A>G (p.Met1Val) single nucleotide variant Neurodevelopmental disorder with seizures and speech and walking impairment [RCV000786003]|not provided [RCV000754490] Chr19:12681766 [GRCh38]
Chr19:12792580 [GRCh37]
Chr19:19p13.13		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001930.4(DHPS):c.784+8G>T single nucleotide variant DHPS-related disorder [RCV003928977]|not provided [RCV003312431] Chr19:12677283 [GRCh38]
Chr19:12788097 [GRCh37]
Chr19:19p13.13		 benign|likely benign
Single allele deletion not provided [RCV000844961] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2		 not provided
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001930.4(DHPS):c.649C>G (p.Pro217Ala) single nucleotide variant not specified [RCV004301659] Chr19:12679486 [GRCh38]
Chr19:12790300 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.485G>C (p.Gly162Ala) single nucleotide variant not specified [RCV004324503] Chr19:12679810 [GRCh38]
Chr19:12790624 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.785-1G>C single nucleotide variant not provided [RCV003237143] Chr19:12677212 [GRCh38]
Chr19:12788026 [GRCh37]
Chr19:19p13.13		 likely pathogenic
GRCh37/hg19 19p13.2(chr19:10642984-12810067) copy number loss not provided [RCV001249213] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2		 not provided
NM_001930.4(DHPS):c.216_217dup (p.Lys73fs) duplication not provided [RCV001804181] Chr19:12680315..12680316 [GRCh38]
Chr19:12791129..12791130 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NC_000019.9:g.(?_10828919)_(13482613_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate B [RCV003109233]|Deficiency of alpha-mannosidase [RCV003109232]|Episodic ataxia type 2 [RCV003109234]|Glutaric aciduria, type 1 [RCV003122092] Chr19:10828919..13482613 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1 copy number loss not provided [RCV001834482] Chr19:12697728..14111313 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
NM_001930.4(DHPS):c.484G>A (p.Gly162Arg) single nucleotide variant not provided [RCV002002257]|not specified [RCV004043871] Chr19:12679811 [GRCh38]
Chr19:12790625 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_12757434)_(13617038_?)del deletion Aicardi-Goutieres syndrome 4 [RCV004579585]|Episodic ataxia type 2 [RCV001953618]|Glutaric aciduria, type 1 [RCV001947065] Chr19:12757434..13617038 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_12757434)_(13373667_?)del deletion Aicardi-Goutieres syndrome 4 [RCV001923352]|Episodic ataxia type 2 [RCV001923351]|not provided [RCV001923353] Chr19:12757434..13373667 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
NM_001930.4(DHPS):c.1074G>A (p.Lys358=) single nucleotide variant not provided [RCV002214091] Chr19:12675874 [GRCh38]
Chr19:12786688 [GRCh37]
Chr19:19p13.13		 likely benign
NC_000019.9:g.(?_11277234)_(13249220_?)dup duplication not provided [RCV003105511] Chr19:11277234..13249220 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001930.4(DHPS):c.460_461del (p.Arg154fs) deletion Neurodevelopmental disorder with seizures and speech and walking impairment [RCV002279893] Chr19:12679834..12679835 [GRCh38]
Chr19:12790648..12790649 [GRCh37]
Chr19:19p13.13		 likely pathogenic
NM_001930.4(DHPS):c.38C>T (p.Ala13Val) single nucleotide variant not provided [RCV002283323] Chr19:12681729 [GRCh38]
Chr19:12792543 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.32C>G (p.Ala11Gly) single nucleotide variant not specified [RCV004333701] Chr19:12681735 [GRCh38]
Chr19:12792549 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.737G>A (p.Arg246His) single nucleotide variant not specified [RCV004197155] Chr19:12673255 [GRCh38]
Chr19:12784069 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.400G>A (p.Gly134Ser) single nucleotide variant not specified [RCV004196097] Chr19:12679895 [GRCh38]
Chr19:12790709 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.548G>A (p.Gly183Glu) single nucleotide variant not specified [RCV004212953] Chr19:12672888 [GRCh38]
Chr19:12783702 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.196G>A (p.Val66Ile) single nucleotide variant not specified [RCV004215357] Chr19:12681571 [GRCh38]
Chr19:12792385 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.883G>A (p.Ala295Thr) single nucleotide variant not specified [RCV004215525] Chr19:12675607 [GRCh38]
Chr19:12786421 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.845C>T (p.Ser282Leu) single nucleotide variant not specified [RCV004163110] Chr19:12675569 [GRCh38]
Chr19:12786383 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.211G>A (p.Glu71Lys) single nucleotide variant not specified [RCV004193175] Chr19:12680322 [GRCh38]
Chr19:12791136 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.695A>G (p.His232Arg) single nucleotide variant not specified [RCV004212618] Chr19:12673213 [GRCh38]
Chr19:12784027 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.272G>A (p.Arg91His) single nucleotide variant not specified [RCV004214439] Chr19:12680261 [GRCh38]
Chr19:12791075 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.529C>T (p.Arg177Cys) single nucleotide variant not specified [RCV004190881] Chr19:12672869 [GRCh38]
Chr19:12783683 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.498C>G (p.Ile166Met) single nucleotide variant not specified [RCV004327444] Chr19:12679716 [GRCh38]
Chr19:12790530 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.568G>A (p.Val190Met) single nucleotide variant not specified [RCV004279739] Chr19:12672908 [GRCh38]
Chr19:12783722 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.193C>G (p.Gln65Glu) single nucleotide variant not specified [RCV004272886] Chr19:12681574 [GRCh38]
Chr19:12792388 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.923A>G (p.Tyr308Cys) single nucleotide variant not specified [RCV004330178] Chr19:12675647 [GRCh38]
Chr19:12786461 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.755G>A (p.Ser252Asn) single nucleotide variant not specified [RCV004349648] Chr19:12673273 [GRCh38]
Chr19:12784087 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.284C>G (p.Thr95Ser) single nucleotide variant not specified [RCV004350056] Chr19:12680249 [GRCh38]
Chr19:12791063 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3 copy number gain not provided [RCV003485193] Chr19:12281048..13573342 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001930.4(DHPS):c.191A>G (p.Gln64Arg) single nucleotide variant DHPS-related disorder [RCV003946572]|not provided [RCV003423349] Chr19:12681576 [GRCh38]
Chr19:12792390 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001930.4(DHPS):c.525T>C (p.Asn175=) single nucleotide variant not provided [RCV003421840] Chr19:12679689 [GRCh38]
Chr19:12790503 [GRCh37]
Chr19:19p13.13		 likely benign
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 copy number loss not specified [RCV003986120] Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001930.4(DHPS):c.271C>T (p.Arg91Cys) single nucleotide variant not specified [RCV004371385] Chr19:12680262 [GRCh38]
Chr19:12791076 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.262A>T (p.Thr88Ser) single nucleotide variant not specified [RCV004371384] Chr19:12680271 [GRCh38]
Chr19:12791085 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.953G>A (p.Gly318Asp) single nucleotide variant not specified [RCV004371386] Chr19:12676078 [GRCh38]
Chr19:12786892 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.126C>G (p.Tyr42Ter) single nucleotide variant not specified [RCV004527179] Chr19:12681641 [GRCh38]
Chr19:12792455 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.204C>T (p.Ala68=) single nucleotide variant DHPS-related disorder [RCV003979240] Chr19:12681563 [GRCh38]
Chr19:12792377 [GRCh37]
Chr19:19p13.13		 benign
NM_001930.4(DHPS):c.657C>G (p.Ser219=) single nucleotide variant DHPS-related disorder [RCV003894711] Chr19:12679478 [GRCh38]
Chr19:12790292 [GRCh37]
Chr19:19p13.13		 benign
NM_001930.4(DHPS):c.207+462G>A single nucleotide variant DHPS-related disorder [RCV003981218] Chr19:12681098 [GRCh38]
Chr19:12791912 [GRCh37]
Chr19:19p13.13		 benign
NM_001930.4(DHPS):c.612T>C (p.Ser204=) single nucleotide variant DHPS-related disorder [RCV003897382] Chr19:12679523 [GRCh38]
Chr19:12790337 [GRCh37]
Chr19:19p13.13		 benign
NM_001099737.3(WDR83):c.755G>C (p.Ser252Thr) single nucleotide variant not specified [RCV004480725] Chr19:12673273 [GRCh38]
Chr19:12784087 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.769G>A (p.Gly257Arg) single nucleotide variant not specified [RCV004480726] Chr19:12673287 [GRCh38]
Chr19:12784101 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.818T>C (p.Leu273Pro) single nucleotide variant not specified [RCV004480727] Chr19:12675542 [GRCh38]
Chr19:12786356 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.907G>A (p.Ala303Thr) single nucleotide variant not specified [RCV004614109] Chr19:12676124 [GRCh38]
Chr19:12786938 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_12757434)_(13387962_?)dup duplication Episodic ataxia type 2 [RCV004581140] Chr19:12757434..13387962 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_12651855)_(13373667_?)del deletion Episodic ataxia type 2 [RCV004581135] Chr19:12651855..13373667 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001930.4(DHPS):c.758C>T (p.Pro253Leu) single nucleotide variant not specified [RCV004614106] Chr19:12677317 [GRCh38]
Chr19:12788131 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.46G>A (p.Ala16Thr) single nucleotide variant not specified [RCV004614108] Chr19:12681721 [GRCh38]
Chr19:12792535 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001099737.3(WDR83):c.614G>A (p.Cys205Tyr) single nucleotide variant not specified [RCV004678371] Chr19:12673047 [GRCh38]
Chr19:12783861 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.254C>T (p.Ala85Val) single nucleotide variant not specified [RCV004614107] Chr19:12680279 [GRCh38]
Chr19:12791093 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.435C>T (p.Pro145=) single nucleotide variant DHPS-related disorder [RCV004730439] Chr19:12679860 [GRCh38]
Chr19:12790674 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001930.4(DHPS):c.937G>C (p.Asp313His) single nucleotide variant not provided [RCV004771392] Chr19:12676094 [GRCh38]
Chr19:12786908 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.207+449G>A single nucleotide variant not provided [RCV004772286] Chr19:12681111 [GRCh38]
Chr19:12791925 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001930.4(DHPS):c.21G>A (p.Arg7=) single nucleotide variant DHPS-related disorder [RCV004756903] Chr19:12681746 [GRCh38]
Chr19:12792560 [GRCh37]
Chr19:19p13.13		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5939
Count of miRNA genes:1012
Interacting mature miRNAs:1294
Transcripts:ENST00000210060, ENST00000351660, ENST00000593400, ENST00000593423, ENST00000593432, ENST00000593473, ENST00000594424, ENST00000595100, ENST00000595844, ENST00000595912, ENST00000596162, ENST00000596847, ENST00000597152, ENST00000598246, ENST00000598850, ENST00000599481, ENST00000600451, ENST00000600510, ENST00000600639, ENST00000600864, ENST00000601537, ENST00000601639
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
D19S677E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371912,786,578 - 12,786,717UniSTSGRCh37
Build 361912,647,578 - 12,647,717RGDNCBI36
Celera1912,676,292 - 12,676,431RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,359,613 - 12,359,752UniSTS
WI-19573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371912,786,389 - 12,786,638UniSTSGRCh37
Build 361912,647,389 - 12,647,638RGDNCBI36
Celera1912,676,103 - 12,676,352RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,359,424 - 12,359,673UniSTS
GeneMap99-GB4 RH Map1973.9UniSTS
Whitehead-RH Map1964.7UniSTS
NCBI RH Map1987.9UniSTS
D19S623E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371912,792,399 - 12,792,515UniSTSGRCh37
Build 361912,653,399 - 12,653,515RGDNCBI36
Celera1912,682,113 - 12,682,229RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,365,454 - 12,365,570UniSTS
GeneMap99-GB4 RH Map1973.79UniSTS


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001206974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_038192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_161467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_161468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_161469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL520040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW250887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY336090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU844677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA524549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L39068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U26266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U32178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000210060   ⟹   ENSP00000210060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,675,717 - 12,681,880 (-)Ensembl
Ensembl Acc Id: ENST00000351660   ⟹   ENSP00000221303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,675,722 - 12,681,771 (-)Ensembl
Ensembl Acc Id: ENST00000593400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,677,090 - 12,679,914 (-)Ensembl
Ensembl Acc Id: ENST00000593423   ⟹   ENSP00000470188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,679,657 - 12,681,211 (-)Ensembl
Ensembl Acc Id: ENST00000593432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,679,462 - 12,680,177 (-)Ensembl
Ensembl Acc Id: ENST00000593473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,679,944 - 12,681,853 (-)Ensembl
Ensembl Acc Id: ENST00000594424   ⟹   ENSP00000471886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,675,743 - 12,681,206 (-)Ensembl
Ensembl Acc Id: ENST00000595100   ⟹   ENSP00000468889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,679,694 - 12,681,838 (-)Ensembl
Ensembl Acc Id: ENST00000595844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,676,775 - 12,680,220 (-)Ensembl
Ensembl Acc Id: ENST00000595912   ⟹   ENSP00000468993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,677,168 - 12,681,868 (-)Ensembl
Ensembl Acc Id: ENST00000596162   ⟹   ENSP00000472348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,677,328 - 12,681,413 (-)Ensembl
Ensembl Acc Id: ENST00000596847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,677,165 - 12,680,030 (-)Ensembl
Ensembl Acc Id: ENST00000597152   ⟹   ENSP00000472094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,677,291 - 12,681,332 (-)Ensembl
Ensembl Acc Id: ENST00000598246   ⟹   ENSP00000471466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,675,717 - 12,679,520 (-)Ensembl
Ensembl Acc Id: ENST00000598850   ⟹   ENSP00000471280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,677,303 - 12,681,563 (-)Ensembl
Ensembl Acc Id: ENST00000599481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,679,625 - 12,681,161 (-)Ensembl
Ensembl Acc Id: ENST00000600451   ⟹   ENSP00000470754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,677,271 - 12,680,281 (-)Ensembl
Ensembl Acc Id: ENST00000600510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,675,751 - 12,676,918 (-)Ensembl
Ensembl Acc Id: ENST00000600639   ⟹   ENSP00000469366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,675,721 - 12,676,072 (-)Ensembl
Ensembl Acc Id: ENST00000600864   ⟹   ENSP00000472096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,675,722 - 12,679,540 (-)Ensembl
Ensembl Acc Id: ENST00000601537   ⟹   ENSP00000472122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,675,762 - 12,681,860 (-)Ensembl
Ensembl Acc Id: ENST00000601639   ⟹   ENSP00000472330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,675,734 - 12,681,807 (-)Ensembl
Ensembl Acc Id: ENST00000614126   ⟹   ENSP00000482709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,675,832 - 12,681,771 (-)Ensembl
RefSeq Acc Id: NM_001206974   ⟹   NP_001193903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,675,717 - 12,681,370 (-)NCBI
GRCh371912,786,531 - 12,792,701 (-)ENTREZGENE
HuRef1912,359,566 - 12,365,756 (-)ENTREZGENE
CHM1_11912,787,036 - 12,792,524 (-)NCBI
T2T-CHM13v2.01912,800,215 - 12,805,870 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369691   ⟹   NP_001356620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,675,717 - 12,681,880 (-)NCBI
T2T-CHM13v2.01912,800,215 - 12,806,380 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369692   ⟹   NP_001356621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,675,717 - 12,681,880 (-)NCBI
T2T-CHM13v2.01912,800,215 - 12,806,380 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369693   ⟹   NP_001356622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,675,717 - 12,681,880 (-)NCBI
T2T-CHM13v2.01912,800,215 - 12,806,380 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001930   ⟹   NP_001921
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,675,717 - 12,681,880 (-)NCBI
GRCh371912,786,531 - 12,792,701 (-)ENTREZGENE
Build 361912,647,534 - 12,653,677 (-)NCBI Archive
HuRef1912,359,566 - 12,365,756 (-)ENTREZGENE
CHM1_11912,787,036 - 12,793,200 (-)NCBI
T2T-CHM13v2.01912,800,215 - 12,806,380 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013406   ⟹   NP_037538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,675,717 - 12,681,880 (-)NCBI
GRCh371912,786,531 - 12,792,701 (-)ENTREZGENE
Build 361912,647,534 - 12,653,677 (-)NCBI Archive
HuRef1912,359,566 - 12,365,756 (-)ENTREZGENE
CHM1_11912,787,036 - 12,793,200 (-)NCBI
T2T-CHM13v2.01912,800,215 - 12,806,380 (-)NCBI
Sequence:
RefSeq Acc Id: NR_038192
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,675,717 - 12,681,880 (-)NCBI
GRCh371912,786,531 - 12,792,701 (-)ENTREZGENE
HuRef1912,359,566 - 12,365,756 (-)ENTREZGENE
CHM1_11912,787,036 - 12,793,200 (-)NCBI
T2T-CHM13v2.01912,800,215 - 12,806,380 (-)NCBI
Sequence:
RefSeq Acc Id: NR_161467
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,675,717 - 12,681,370 (-)NCBI
T2T-CHM13v2.01912,800,215 - 12,805,870 (-)NCBI
Sequence:
RefSeq Acc Id: NR_161468
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,672,470 - 12,681,880 (-)NCBI
T2T-CHM13v2.01912,796,968 - 12,806,380 (-)NCBI
Sequence:
RefSeq Acc Id: NR_161469
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,675,717 - 12,681,880 (-)NCBI
T2T-CHM13v2.01912,800,215 - 12,806,380 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001193903 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356620 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356621 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356622 (Get FASTA)   NCBI Sequence Viewer  
  NP_001921 (Get FASTA)   NCBI Sequence Viewer  
  NP_037538 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA86282 (Get FASTA)   NCBI Sequence Viewer  
  AAA96151 (Get FASTA)   NCBI Sequence Viewer  
  AAB02175 (Get FASTA)   NCBI Sequence Viewer  
  AAB02179 (Get FASTA)   NCBI Sequence Viewer  
  AAB50208 (Get FASTA)   NCBI Sequence Viewer  
  AAH00333 (Get FASTA)   NCBI Sequence Viewer  
  AAH14016 (Get FASTA)   NCBI Sequence Viewer  
  AAR24620 (Get FASTA)   NCBI Sequence Viewer  
  BAF84242 (Get FASTA)   NCBI Sequence Viewer  
  BAG62212 (Get FASTA)   NCBI Sequence Viewer  
  BAG65534 (Get FASTA)   NCBI Sequence Viewer  
  CAA04940 (Get FASTA)   NCBI Sequence Viewer  
  EAW84287 (Get FASTA)   NCBI Sequence Viewer  
  EAW84288 (Get FASTA)   NCBI Sequence Viewer  
  EAW84289 (Get FASTA)   NCBI Sequence Viewer  
  EAW84290 (Get FASTA)   NCBI Sequence Viewer  
  EAW84291 (Get FASTA)   NCBI Sequence Viewer  
  EAW84292 (Get FASTA)   NCBI Sequence Viewer  
  EAW84293 (Get FASTA)   NCBI Sequence Viewer  
  EAW84294 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000210060
  ENSP00000210060.6
  ENSP00000221303
  ENSP00000221303.5
  ENSP00000468889.1
  ENSP00000468993.1
  ENSP00000469366.1
  ENSP00000470188.1
  ENSP00000470754.1
  ENSP00000471280.1
  ENSP00000471466.1
  ENSP00000471886
  ENSP00000471886.1
  ENSP00000472094.1
  ENSP00000472096.1
  ENSP00000472122.1
  ENSP00000472330.1
  ENSP00000472348.1
GenBank Protein P49366 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_037538   ⟸   NM_013406
- Peptide Label: isoform b
- UniProtKB: Q5J8M5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001921   ⟸   NM_001930
- Peptide Label: isoform a
- UniProtKB: Q13276 (UniProtKB/Swiss-Prot),   Q13184 (UniProtKB/Swiss-Prot),   M0R1I5 (UniProtKB/Swiss-Prot),   A8K688 (UniProtKB/Swiss-Prot),   Q9UDG0 (UniProtKB/Swiss-Prot),   P49366 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193903   ⟸   NM_001206974
- Peptide Label: isoform d
- UniProtKB: P49366 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001356622   ⟸   NM_001369693
- Peptide Label: isoform g
RefSeq Acc Id: NP_001356621   ⟸   NM_001369692
- Peptide Label: isoform f
- UniProtKB: Q5J8M5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356620   ⟸   NM_001369691
- Peptide Label: isoform e
Ensembl Acc Id: ENSP00000471886   ⟸   ENST00000594424
Ensembl Acc Id: ENSP00000468889   ⟸   ENST00000595100
Ensembl Acc Id: ENSP00000468993   ⟸   ENST00000595912
Ensembl Acc Id: ENSP00000472348   ⟸   ENST00000596162
Ensembl Acc Id: ENSP00000472094   ⟸   ENST00000597152
Ensembl Acc Id: ENSP00000471280   ⟸   ENST00000598850
Ensembl Acc Id: ENSP00000471466   ⟸   ENST00000598246
Ensembl Acc Id: ENSP00000469366   ⟸   ENST00000600639
Ensembl Acc Id: ENSP00000470754   ⟸   ENST00000600451
Ensembl Acc Id: ENSP00000482709   ⟸   ENST00000614126
Ensembl Acc Id: ENSP00000472096   ⟸   ENST00000600864
Ensembl Acc Id: ENSP00000472122   ⟸   ENST00000601537
Ensembl Acc Id: ENSP00000472330   ⟸   ENST00000601639
Ensembl Acc Id: ENSP00000221303   ⟸   ENST00000351660
Ensembl Acc Id: ENSP00000210060   ⟸   ENST00000210060
Ensembl Acc Id: ENSP00000470188   ⟸   ENST00000593423

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49366-F1-model_v2 AlphaFold P49366 1-369 view protein structure

Promoters
RGD ID:6811547
Promoter ID:HG_ACW:40037
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:DHPS.RAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,647,939 - 12,648,439 (-)MPROMDB
RGD ID:6795409
Promoter ID:HG_KWN:29016
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:ENST00000210060,   ENST00000351660,   NM_013407,   UC002MUG.1,   UC002MUK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,653,136 - 12,653,636 (-)MPROMDB
RGD ID:6853408
Promoter ID:EP74529
Type:initiation region
Name:HS_DHPS
Description:Deoxyhypusine synthase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,653,671 - 12,653,731EPD
RGD ID:7238707
Promoter ID:EPDNEW_H25097
Type:initiation region
Name:DHPS_1
Description:deoxyhypusine synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,681,877 - 12,681,937EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2869 AgrOrtholog
COSMIC DHPS COSMIC
Ensembl Genes ENSG00000095059 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000210060 ENTREZGENE
  ENST00000210060.12 UniProtKB/Swiss-Prot
  ENST00000351660 ENTREZGENE
  ENST00000351660.9 UniProtKB/Swiss-Prot
  ENST00000593423.5 UniProtKB/TrEMBL
  ENST00000594424 ENTREZGENE
  ENST00000594424.5 UniProtKB/Swiss-Prot
  ENST00000595100.1 UniProtKB/TrEMBL
  ENST00000595912.5 UniProtKB/TrEMBL
  ENST00000596162.1 UniProtKB/TrEMBL
  ENST00000597152.5 UniProtKB/TrEMBL
  ENST00000598246.5 UniProtKB/TrEMBL
  ENST00000598850.5 UniProtKB/TrEMBL
  ENST00000600451.5 UniProtKB/TrEMBL
  ENST00000600639.1 UniProtKB/TrEMBL
  ENST00000600864.5 UniProtKB/TrEMBL
  ENST00000601537 ENTREZGENE
  ENST00000601537.5 UniProtKB/TrEMBL
  ENST00000601639 ENTREZGENE
  ENST00000601639.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.910.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000095059 GTEx
HGNC ID HGNC:2869 ENTREZGENE
Human Proteome Map DHPS Human Proteome Map
InterPro Deoxyhypusine_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Deoxyhypusine_synthase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHS-like_NAD/FAD-binding_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1725 UniProtKB/Swiss-Prot
NCBI Gene 1725 ENTREZGENE
OMIM 600944 OMIM
PANTHER DEOXYHYPUSINE SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11703 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF01916 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB DHPS RGD, PharmGKB
Superfamily-SCOP SSF52467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K688 ENTREZGENE
  B4E3M2_HUMAN UniProtKB/TrEMBL
  DHYS_HUMAN UniProtKB/Swiss-Prot
  M0QX43_HUMAN UniProtKB/TrEMBL
  M0QXT2_HUMAN UniProtKB/TrEMBL
  M0QYZ7_HUMAN UniProtKB/TrEMBL
  M0QZT3_HUMAN UniProtKB/TrEMBL
  M0R0J4_HUMAN UniProtKB/TrEMBL
  M0R0V2_HUMAN UniProtKB/TrEMBL
  M0R1I5 ENTREZGENE
  M0R1T2_HUMAN UniProtKB/TrEMBL
  M0R1T4_HUMAN UniProtKB/TrEMBL
  M0R253_HUMAN UniProtKB/TrEMBL
  M0R264_HUMAN UniProtKB/TrEMBL
  P49366 ENTREZGENE
  Q13184 ENTREZGENE
  Q13276 ENTREZGENE
  Q5J8M5 ENTREZGENE, UniProtKB/TrEMBL
  Q9UDG0 ENTREZGENE
UniProt Secondary A8K688 UniProtKB/Swiss-Prot
  M0R1I5 UniProtKB/Swiss-Prot
  Q13184 UniProtKB/Swiss-Prot
  Q13276 UniProtKB/Swiss-Prot
  Q9UDG0 UniProtKB/Swiss-Prot