ALG5 (ALG5 dolichyl-phosphate beta-glucosyltransferase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: ALG5 (ALG5 dolichyl-phosphate beta-glucosyltransferase) Homo sapiens
Analyze
Symbol: ALG5
Name: ALG5 dolichyl-phosphate beta-glucosyltransferase
RGD ID: 1318934
HGNC Page HGNC:20266
Description: Enables dolichyl-phosphate beta-glucosyltransferase activity. Involved in dolichol-linked oligosaccharide biosynthetic process. Located in membrane. Is active in cytoplasmic side of rough endoplasmic reticulum membrane. Implicated in polycystic kidney disease 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALG5, dolichyl-phosphate beta-glucosyltransferase; Alg5, S. cerevisiae, homolog of; asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase); asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase); asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog; asparagine-linked glycosylation protein 5 homolog; bA421P11.2; dolichyl phosphate glucosyltransferase; dolichyl-phosphate beta-glucosyltransferase; dolP-glucosyltransferase; PKD7; RP11-421P11.2
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
GRCh381336,949,738 - 36,999,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1336,949,738 - 37,000,763 (-)EnsemblGRCh38hg38GRCh38
GRCh371337,523,875 - 37,573,504 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361336,421,967 - 36,471,477 (-)NCBINCBI36Build 36hg18NCBI36
Build 341336,421,966 - 36,471,477NCBI
Celera1318,591,143 - 18,640,745 (-)NCBICelera
Cytogenetic Map13q13.3NCBI
HuRef1318,335,281 - 18,381,329 (-)NCBIHuRef
CHM1_11337,491,436 - 37,541,055 (-)NCBICHM1_1
T2T-CHM13v2.01336,168,907 - 36,218,563 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10359825   PMID:11042152   PMID:12477932   PMID:15342556   PMID:15489334   PMID:19946888   PMID:20301424   PMID:21873635   PMID:25437307   PMID:26186194   PMID:28514442  
PMID:29180619   PMID:29955894   PMID:30463901   PMID:30833792   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31266804   PMID:31678930   PMID:31871319   PMID:32344865   PMID:32353859  
PMID:32838362   PMID:33001583   PMID:33060197   PMID:33660365   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34373451   PMID:34709727   PMID:35007762   PMID:35241646  
PMID:35337019   PMID:35384245   PMID:35439318   PMID:35896117   PMID:35906200   PMID:36215168   PMID:36217030   PMID:36610398   PMID:37314216   PMID:37827155   PMID:38569033  


Genomics

Comparative Map Data
ALG5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381336,949,738 - 36,999,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1336,949,738 - 37,000,763 (-)EnsemblGRCh38hg38GRCh38
GRCh371337,523,875 - 37,573,504 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361336,421,967 - 36,471,477 (-)NCBINCBI36Build 36hg18NCBI36
Build 341336,421,966 - 36,471,477NCBI
Celera1318,591,143 - 18,640,745 (-)NCBICelera
Cytogenetic Map13q13.3NCBI
HuRef1318,335,281 - 18,381,329 (-)NCBIHuRef
CHM1_11337,491,436 - 37,541,055 (-)NCBICHM1_1
T2T-CHM13v2.01336,168,907 - 36,218,563 (-)NCBIT2T-CHM13v2.0
Alg5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39354,642,960 - 54,657,216 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl354,642,960 - 54,658,739 (+)EnsemblGRCm39 Ensembl
GRCm38354,735,539 - 54,749,795 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl354,735,539 - 54,751,318 (+)EnsemblGRCm38mm10GRCm38
MGSCv37354,539,461 - 54,553,717 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36354,823,468 - 54,837,724 (+)NCBIMGSCv36mm8
Celera354,460,433 - 54,471,453 (+)NCBICelera
Cytogenetic Map3CNCBI
cM Map325.6NCBI
Alg5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82141,087,126 - 141,101,397 (+)NCBIGRCr8
mRatBN7.22138,936,998 - 138,951,228 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2138,936,993 - 138,951,216 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2145,511,766 - 145,525,477 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02143,623,792 - 143,637,501 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02138,255,627 - 138,269,336 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02143,932,242 - 143,946,472 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2143,932,739 - 143,946,466 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02160,317,029 - 160,331,259 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42143,962,038 - 143,975,765 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12143,912,000 - 143,925,728 (+)NCBI
Celera2133,422,302 - 133,436,029 (+)NCBICelera
Cytogenetic Map2q26NCBI
Alg5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554319,059,098 - 9,097,510 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554319,059,074 - 9,097,597 (+)NCBIChiLan1.0ChiLan1.0
ALG5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21436,469,547 - 36,520,406 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11327,575,716 - 27,625,936 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01318,156,978 - 18,207,970 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11336,587,531 - 36,638,107 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1336,587,531 - 36,637,238 (-)Ensemblpanpan1.1panPan2
ALG5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1253,705,521 - 3,753,987 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl253,706,423 - 3,753,947 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha253,735,489 - 3,784,093 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0253,803,681 - 3,852,316 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl253,804,682 - 3,852,316 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1253,706,661 - 3,755,223 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0253,697,910 - 3,746,489 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0253,769,810 - 3,818,472 (+)NCBIUU_Cfam_GSD_1.0
Alg5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945164,839,486 - 164,880,546 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647231,071,832 - 31,111,180 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647231,071,746 - 31,112,600 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALG5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1112,777,552 - 12,816,008 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11112,777,549 - 12,815,969 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21112,785,116 - 12,797,956 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ALG5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1315,468,291 - 15,519,137 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl315,468,208 - 15,518,941 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605728,765,647 - 28,816,592 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Alg5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624776231,610 - 280,488 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624776230,565 - 280,584 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALG5
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33		 pathogenic
GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1 copy number loss See cases [RCV000051375] Chr13:35232476..41375955 [GRCh38]
Chr13:35806613..41950091 [GRCh37]
Chr13:34704613..40848091 [NCBI36]
Chr13:13q13.3-14.11		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11		 pathogenic
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 copy number loss See cases [RCV000138723] Chr13:31018160..48491204 [GRCh38]
Chr13:31592297..49065340 [GRCh37]
Chr13:30490297..47963341 [NCBI36]
Chr13:13q12.3-14.2		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1 copy number loss See cases [RCV000139225] Chr13:30313809..39267681 [GRCh38]
Chr13:30887946..39841818 [GRCh37]
Chr13:29785946..38739818 [NCBI36]
Chr13:13q12.3-13.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3 copy number gain See cases [RCV000142869] Chr13:29321454..36995348 [GRCh38]
Chr13:29895591..37569485 [GRCh37]
Chr13:28793591..36467485 [NCBI36]
Chr13:13q12.3-13.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_013338.5(ALG5):c.703_704del (p.Gln235fs) microsatellite Polycystic kidney disease 7 [RCV002287539] Chr13:36965644..36965645 [GRCh38]
Chr13:37539781..37539782 [GRCh37]
Chr13:13q13.3		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1 copy number loss See cases [RCV000449219] Chr13:36064105..39230796 [GRCh37]
Chr13:13q13.3		 likely pathogenic
GRCh37/hg19 13q13.3(chr13:35531798-39607778)x1 copy number loss See cases [RCV000449245] Chr13:35531798..39607778 [GRCh37]
Chr13:13q13.3		 likely pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.3(chr13:37498944-37617645)x3 copy number gain not provided [RCV000738172] Chr13:37498944..37617645 [GRCh37]
Chr13:13q13.3		 benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1 copy number loss not specified [RCV002053051] Chr13:36064105..39230796 [GRCh37]
Chr13:13q13.3		 pathogenic|likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
GRCh37/hg19 13q13.3(chr13:35531798-39607778) copy number loss not specified [RCV002053049] Chr13:35531798..39607778 [GRCh37]
Chr13:13q13.3		 likely pathogenic
GRCh37/hg19 13q13.3(chr13:37464566-38493263)x3 copy number gain not provided [RCV001836524] Chr13:37464566..38493263 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_013338.5(ALG5):c.773G>A (p.Trp258Ter) single nucleotide variant Polycystic kidney disease 7 [RCV002287540] Chr13:36965575 [GRCh38]
Chr13:37539712 [GRCh37]
Chr13:13q13.3		 pathogenic
NM_013338.5(ALG5):c.635G>A (p.Arg212His) single nucleotide variant Polycystic kidney disease 7 [RCV002287541] Chr13:36965713 [GRCh38]
Chr13:37539850 [GRCh37]
Chr13:13q13.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_013338.5(ALG5):c.623G>A (p.Arg208His) single nucleotide variant Polycystic kidney disease 7 [RCV002287542] Chr13:36965725 [GRCh38]
Chr13:37539862 [GRCh37]
Chr13:13q13.3		 pathogenic
GRCh37/hg19 13q13.3-14.11(chr13:36148057-41670428)x3 copy number gain not provided [RCV002474615] Chr13:36148057..41670428 [GRCh37]
Chr13:13q13.3-14.11		 uncertain significance
GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1 copy number loss not provided [RCV002474979] Chr13:35501428..40901176 [GRCh37]
Chr13:13q13.3-14.11		 pathogenic
NM_013338.5(ALG5):c.290G>A (p.Arg97Gln) single nucleotide variant not specified [RCV004179715] Chr13:36993668 [GRCh38]
Chr13:37567805 [GRCh37]
Chr13:13q13.3		 likely benign
NM_013338.5(ALG5):c.770G>A (p.Arg257Gln) single nucleotide variant not specified [RCV004146792] Chr13:36965578 [GRCh38]
Chr13:37539715 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.560C>G (p.Pro187Arg) single nucleotide variant not specified [RCV004226914] Chr13:36985628 [GRCh38]
Chr13:37559765 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.916A>G (p.Ile306Val) single nucleotide variant not specified [RCV004147619] Chr13:36950001 [GRCh38]
Chr13:37524138 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.926G>A (p.Arg309Gln) single nucleotide variant not specified [RCV004081615] Chr13:36949991 [GRCh38]
Chr13:37524128 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.894A>C (p.Gln298His) single nucleotide variant not specified [RCV004177799] Chr13:36950023 [GRCh38]
Chr13:37524160 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.799A>G (p.Ile267Val) single nucleotide variant not specified [RCV004096227] Chr13:36952574 [GRCh38]
Chr13:37526711 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.694A>G (p.Arg232Gly) single nucleotide variant not specified [RCV004342129] Chr13:36965654 [GRCh38]
Chr13:37539791 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13q13.3(chr13:37267058-37979438)x3 copy number gain not provided [RCV003484896] Chr13:37267058..37979438 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.634C>T (p.Arg212Cys) single nucleotide variant ALG5-related disorder [RCV003397807] Chr13:36965714 [GRCh38]
Chr13:37539851 [GRCh37]
Chr13:13q13.3		 uncertain significance
GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1 copy number loss not specified [RCV003987035] Chr13:35060982..44540846 [GRCh37]
Chr13:13q13.2-14.11		 uncertain significance
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1		 pathogenic
NM_013338.5(ALG5):c.54A>C (p.Ala18=) single nucleotide variant ALG5-related disorder [RCV003957221] Chr13:36999247 [GRCh38]
Chr13:37573384 [GRCh37]
Chr13:13q13.3		 benign
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2		 pathogenic
NM_013338.5(ALG5):c.115C>T (p.Arg39Ter) single nucleotide variant Polycystic kidney disease 7 [RCV004555451] Chr13:36995548 [GRCh38]
Chr13:37569685 [GRCh37]
Chr13:13q13.3		 likely pathogenic
NM_013338.5(ALG5):c.613A>G (p.Ile205Val) single nucleotide variant ALG5-related disorder [RCV003921701] Chr13:36971985 [GRCh38]
Chr13:37546122 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.36C>T (p.Gly12=) single nucleotide variant ALG5-related disorder [RCV003926820] Chr13:36999265 [GRCh38]
Chr13:37573402 [GRCh37]
Chr13:13q13.3		 benign
NM_013338.5(ALG5):c.208G>A (p.Val70Ile) single nucleotide variant ALG5-related disorder [RCV003969850]|not specified [RCV004634415] Chr13:36995455 [GRCh38]
Chr13:37569592 [GRCh37]
Chr13:13q13.3		 likely benign|uncertain significance
NM_013338.5(ALG5):c.746C>T (p.Thr249Met) single nucleotide variant Polycystic kidney disease 7 [RCV003988990] Chr13:36965602 [GRCh38]
Chr13:37539739 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.31C>G (p.Leu11Val) single nucleotide variant ALG5-related disorder [RCV003924238] Chr13:36999270 [GRCh38]
Chr13:37573407 [GRCh37]
Chr13:13q13.3		 likely benign
NM_013338.5(ALG5):c.747G>A (p.Thr249=) single nucleotide variant ALG5-related disorder [RCV003899444] Chr13:36965601 [GRCh38]
Chr13:37539738 [GRCh37]
Chr13:13q13.3		 likely benign
NM_013338.5(ALG5):c.717ATT[1] (p.Leu240del) microsatellite Polycystic kidney disease 7 [RCV004546873] Chr13:36965626..36965628 [GRCh38]
Chr13:37539763..37539765 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.962G>A (p.Arg321Gln) single nucleotide variant not specified [RCV004405676] Chr13:36949955 [GRCh38]
Chr13:37524092 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.672G>A (p.Trp224Ter) single nucleotide variant Polycystic kidney disease 7 [RCV003991155] Chr13:36965676 [GRCh38]
Chr13:37539813 [GRCh37]
Chr13:13q13.3		 likely pathogenic
NM_013338.5(ALG5):c.116G>A (p.Arg39Gln) single nucleotide variant not specified [RCV004405646] Chr13:36995547 [GRCh38]
Chr13:37569684 [GRCh37]
Chr13:13q13.3		 likely benign
NM_013338.5(ALG5):c.755C>G (p.Ser252Cys) single nucleotide variant not specified [RCV004405653] Chr13:36965593 [GRCh38]
Chr13:37539730 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.793C>G (p.Leu265Val) single nucleotide variant not specified [RCV004405660] Chr13:36952580 [GRCh38]
Chr13:37526717 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.926G>T (p.Arg309Leu) single nucleotide variant not specified [RCV004405673] Chr13:36949991 [GRCh38]
Chr13:37524128 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.705G>C (p.Gln235His) single nucleotide variant Polycystic kidney disease 7 [RCV004598360] Chr13:36965643 [GRCh38]
Chr13:37539780 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.22C>G (p.Leu8Val) single nucleotide variant not specified [RCV004630555] Chr13:36999279 [GRCh38]
Chr13:37573416 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.239-2A>G single nucleotide variant Polycystic kidney disease 7 [RCV004598504] Chr13:36995037 [GRCh38]
Chr13:37569174 [GRCh37]
Chr13:13q13.3		 likely pathogenic
NC_000013.10:g.(?_36878502)_(40325230_?)dup duplication not provided [RCV004578351] Chr13:36878502..40325230 [GRCh37]
Chr13:13q13.3-14.11		 uncertain significance
NC_000013.10:g.(?_37393495)_(37583436_?)del deletion MHC class II deficiency [RCV004578317] Chr13:37393495..37583436 [GRCh37]
Chr13:13q13.3		 pathogenic
NM_013338.5(ALG5):c.55G>T (p.Ala19Ser) single nucleotide variant ALG5-related disorder [RCV004732090] Chr13:36999246 [GRCh38]
Chr13:37573383 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.487G>A (p.Asp163Asn) single nucleotide variant ALG5-related disorder [RCV004755142] Chr13:36985701 [GRCh38]
Chr13:37559838 [GRCh37]
Chr13:13q13.3		 uncertain significance
NM_013338.5(ALG5):c.6T>A (p.Ala2=) single nucleotide variant ALG5-related disorder [RCV004730537] Chr13:36999295 [GRCh38]
Chr13:37573432 [GRCh37]
Chr13:13q13.3		 likely benign
NM_013338.5(ALG5):c.178T>C (p.Trp60Arg) single nucleotide variant ALG5-related disorder [RCV004755220] Chr13:36995485 [GRCh38]
Chr13:37569622 [GRCh37]
Chr13:13q13.3		 likely benign
NM_013338.5(ALG5):c.236G>A (p.Arg79Gln) single nucleotide variant ALG5-related disorder [RCV004732442] Chr13:36995427 [GRCh38]
Chr13:37569564 [GRCh37]
Chr13:13q13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:417
Count of miRNA genes:302
Interacting mature miRNAs:315
Transcripts:ENST00000239891, ENST00000413537, ENST00000443765, ENST00000460230, ENST00000486410, ENST00000496689
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407080152GWAS729128_Hinterleukin 10 measurement QTL GWAS729128 (human)0.0000002interleukin 10 measurement133699659436996595Human

Markers in Region
STS-W15306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371337,524,035 - 37,524,169UniSTSGRCh37
Build 361336,422,035 - 36,422,169RGDNCBI36
Celera1318,591,271 - 18,591,405RGD
Cytogenetic Map13q13.3UniSTS
HuRef1318,335,409 - 18,335,543UniSTS
GeneMap99-GB4 RH Map13122.15UniSTS
SHGC-34125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371337,569,581 - 37,569,708UniSTSGRCh37
Build 361336,467,581 - 36,467,708RGDNCBI36
Celera1318,636,824 - 18,636,951RGD
Cytogenetic Map13q13.3UniSTS
HuRef1318,381,177 - 18,381,304UniSTS
Stanford-G3 RH Map13768.0UniSTS
GeneMap99-GB4 RH Map13120.52UniSTS
Whitehead-RH Map13103.2UniSTS
NCBI RH Map13315.7UniSTS
GeneMap99-G3 RH Map13764.0UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001142364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF088028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF102850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF183413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI027225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF668393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG482604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP246765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU739112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB988638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000239891   ⟹   ENSP00000239891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,738 - 36,999,340 (-)Ensembl
Ensembl Acc Id: ENST00000443765   ⟹   ENSP00000390533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,848 - 36,999,342 (-)Ensembl
Ensembl Acc Id: ENST00000460230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,994 - 36,968,056 (-)Ensembl
Ensembl Acc Id: ENST00000486410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,849 - 36,953,026 (-)Ensembl
Ensembl Acc Id: ENST00000496689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,738 - 37,000,261 (-)Ensembl
Ensembl Acc Id: ENST00000679397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,989,412 - 36,999,305 (-)Ensembl
Ensembl Acc Id: ENST00000679572   ⟹   ENSP00000505481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,934 - 36,999,332 (-)Ensembl
Ensembl Acc Id: ENST00000679673   ⟹   ENSP00000505408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,738 - 36,999,300 (-)Ensembl
Ensembl Acc Id: ENST00000679760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,931 - 36,999,352 (-)Ensembl
Ensembl Acc Id: ENST00000679837   ⟹   ENSP00000505491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,942 - 36,999,340 (-)Ensembl
Ensembl Acc Id: ENST00000680012   ⟹   ENSP00000504993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,862 - 36,999,340 (-)Ensembl
Ensembl Acc Id: ENST00000680127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,963,994 - 36,995,592 (-)Ensembl
Ensembl Acc Id: ENST00000680488   ⟹   ENSP00000505795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,846 - 36,999,300 (-)Ensembl
Ensembl Acc Id: ENST00000680671   ⟹   ENSP00000506352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,853 - 36,999,340 (-)Ensembl
Ensembl Acc Id: ENST00000680795   ⟹   ENSP00000506082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,849 - 36,999,324 (-)Ensembl
Ensembl Acc Id: ENST00000680949   ⟹   ENSP00000506156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,848 - 37,000,763 (-)Ensembl
Ensembl Acc Id: ENST00000681016   ⟹   ENSP00000505412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,841 - 37,000,252 (-)Ensembl
Ensembl Acc Id: ENST00000681043   ⟹   ENSP00000504940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,848 - 36,999,342 (-)Ensembl
Ensembl Acc Id: ENST00000681110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,964,715 - 36,999,299 (-)Ensembl
Ensembl Acc Id: ENST00000681151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,862 - 36,999,305 (-)Ensembl
Ensembl Acc Id: ENST00000681208   ⟹   ENSP00000504947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,848 - 36,999,340 (-)Ensembl
Ensembl Acc Id: ENST00000681214   ⟹   ENSP00000506093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,933 - 36,999,300 (-)Ensembl
Ensembl Acc Id: ENST00000681553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,901 - 36,999,312 (-)Ensembl
Ensembl Acc Id: ENST00000681581   ⟹   ENSP00000506204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,950,025 - 36,999,336 (-)Ensembl
Ensembl Acc Id: ENST00000681727   ⟹   ENSP00000506077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,984,400 - 36,999,305 (-)Ensembl
Ensembl Acc Id: ENST00000681763   ⟹   ENSP00000506186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,848 - 36,999,340 (-)Ensembl
Ensembl Acc Id: ENST00000681892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,984,243 - 36,999,320 (-)Ensembl
Ensembl Acc Id: ENST00000681893   ⟹   ENSP00000506235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1336,949,839 - 37,000,741 (-)Ensembl
RefSeq Acc Id: NM_001142364   ⟹   NP_001135836
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381336,949,770 - 36,999,367 (-)NCBI
GRCh371337,523,907 - 37,573,504 (-)RGD
Celera1318,591,143 - 18,640,745 (-)RGD
HuRef1318,335,281 - 18,381,329 (-)ENTREZGENE
CHM1_11337,491,436 - 37,541,055 (-)NCBI
T2T-CHM13v2.01336,168,939 - 36,218,563 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013338   ⟹   NP_037470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381336,949,738 - 36,999,340 (-)NCBI
GRCh371337,523,907 - 37,573,504 (-)RGD
Build 361336,421,967 - 36,471,477 (-)NCBI Archive
Celera1318,591,143 - 18,640,745 (-)RGD
HuRef1318,335,281 - 18,381,329 (-)ENTREZGENE
CHM1_11337,491,436 - 37,541,055 (-)NCBI
T2T-CHM13v2.01336,168,907 - 36,218,536 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430283   ⟹   XP_047286239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381336,949,738 - 36,995,597 (-)NCBI
RefSeq Acc Id: XM_054374484   ⟹   XP_054230459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01336,168,907 - 36,214,795 (-)NCBI
RefSeq Acc Id: XR_007063678
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381336,965,575 - 36,999,340 (-)NCBI
RefSeq Acc Id: XR_008488758
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01336,184,763 - 36,218,536 (-)NCBI
RefSeq Acc Id: NP_037470   ⟸   NM_013338
- Peptide Label: isoform 1
- UniProtKB: B4DR37 (UniProtKB/Swiss-Prot),   Q5TBA6 (UniProtKB/Swiss-Prot),   Q9Y673 (UniProtKB/Swiss-Prot),   Q9HC03 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001135836   ⟸   NM_001142364
- Peptide Label: isoform 2
- UniProtKB: Q9HC03 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000390533   ⟸   ENST00000443765
Ensembl Acc Id: ENSP00000239891   ⟸   ENST00000239891
Ensembl Acc Id: ENSP00000506352   ⟸   ENST00000680671
Ensembl Acc Id: ENSP00000506186   ⟸   ENST00000681763
Ensembl Acc Id: ENSP00000506082   ⟸   ENST00000680795
Ensembl Acc Id: ENSP00000504940   ⟸   ENST00000681043
Ensembl Acc Id: ENSP00000505408   ⟸   ENST00000679673
Ensembl Acc Id: ENSP00000504993   ⟸   ENST00000680012
Ensembl Acc Id: ENSP00000506235   ⟸   ENST00000681893
Ensembl Acc Id: ENSP00000506077   ⟸   ENST00000681727
Ensembl Acc Id: ENSP00000505491   ⟸   ENST00000679837
Ensembl Acc Id: ENSP00000506093   ⟸   ENST00000681214
Ensembl Acc Id: ENSP00000504947   ⟸   ENST00000681208
Ensembl Acc Id: ENSP00000506204   ⟸   ENST00000681581
Ensembl Acc Id: ENSP00000505481   ⟸   ENST00000679572
Ensembl Acc Id: ENSP00000505795   ⟸   ENST00000680488
Ensembl Acc Id: ENSP00000505412   ⟸   ENST00000681016
Ensembl Acc Id: ENSP00000506156   ⟸   ENST00000680949
RefSeq Acc Id: XP_047286239   ⟸   XM_047430283
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054230459   ⟸   XM_054374484
- Peptide Label: isoform X1
Protein Domains
Glycosyltransferase 2-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y673-F1-model_v2 AlphaFold Q9Y673 1-324 view protein structure

Promoters
RGD ID:6790698
Promoter ID:HG_KWN:17574
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001142364,   NM_013338
Position:
Human AssemblyChrPosition (strand)Source
Build 361336,471,194 - 36,471,694 (-)MPROMDB
RGD ID:6790702
Promoter ID:HG_KWN:17575
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:ENST00000379809,   ENST00000389704,   NM_181503,   OTTHUMT00000044532,   OTTHUMT00000044534,   OTTHUMT00000044539,   OTTHUMT00000044540,   OTTHUMT00000044542,   UC001UVZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361336,471,511 - 36,473,052 (-)MPROMDB
RGD ID:7226233
Promoter ID:EPDNEW_H18862
Type:initiation region
Name:ALG5_1
Description:ALG5, dolichyl-phosphate beta-glucosyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18864  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381336,999,327 - 36,999,387EPDNEW
RGD ID:7226237
Promoter ID:EPDNEW_H18864
Type:initiation region
Name:ALG5_2
Description:ALG5, dolichyl-phosphate beta-glucosyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18862  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381337,001,029 - 37,001,089EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20266 AgrOrtholog
COSMIC ALG5 COSMIC
Ensembl Genes ENSG00000120697 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000239891 ENTREZGENE
  ENST00000239891.4 UniProtKB/Swiss-Prot
  ENST00000443765 ENTREZGENE
  ENST00000443765.6 UniProtKB/Swiss-Prot
  ENST00000679572.1 UniProtKB/TrEMBL
  ENST00000679673 ENTREZGENE
  ENST00000679673.1 UniProtKB/TrEMBL
  ENST00000679837.1 UniProtKB/TrEMBL
  ENST00000680012.1 UniProtKB/TrEMBL
  ENST00000680488.1 UniProtKB/TrEMBL
  ENST00000680671.1 UniProtKB/TrEMBL
  ENST00000680795.1 UniProtKB/TrEMBL
  ENST00000680949.1 UniProtKB/TrEMBL
  ENST00000681016.1 UniProtKB/TrEMBL
  ENST00000681043.1 UniProtKB/TrEMBL
  ENST00000681208.1 UniProtKB/TrEMBL
  ENST00000681214.1 UniProtKB/TrEMBL
  ENST00000681581 ENTREZGENE
  ENST00000681581.1 UniProtKB/TrEMBL
  ENST00000681727.1 UniProtKB/TrEMBL
  ENST00000681763.1 UniProtKB/TrEMBL
  ENST00000681893.1 UniProtKB/TrEMBL
GTEx ENSG00000120697 GTEx
HGNC ID HGNC:20266 ENTREZGENE
Human Proteome Map ALG5 Human Proteome Map
InterPro DPG_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_trans_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29880 UniProtKB/Swiss-Prot
NCBI Gene 29880 ENTREZGENE
OMIM 604565 OMIM
PANTHER DOLICHYL-PHOSPHATE BETA-GLUCOSYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLYCOSYL TRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glycos_transf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134977026 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T850_HUMAN UniProtKB/TrEMBL
  A0A7P0T882_HUMAN UniProtKB/TrEMBL
  A0A7P0T8X9_HUMAN UniProtKB/TrEMBL
  A0A7P0T901_HUMAN UniProtKB/TrEMBL
  A0A7P0T9B8_HUMAN UniProtKB/TrEMBL
  A0A7P0T9C7_HUMAN UniProtKB/TrEMBL
  A0A7P0T9X2_HUMAN UniProtKB/TrEMBL
  A0A7P0TA95_HUMAN UniProtKB/TrEMBL
  A0A7P0TA98_HUMAN UniProtKB/TrEMBL
  A0A7P0TAI2_HUMAN UniProtKB/TrEMBL
  A0A7P0TAL2_HUMAN UniProtKB/TrEMBL
  A0A7P0TB27_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4I2_HUMAN UniProtKB/TrEMBL
  ALG5_HUMAN UniProtKB/Swiss-Prot
  B4DR37 ENTREZGENE
  B4DR67_HUMAN UniProtKB/TrEMBL
  Q5TBA6 ENTREZGENE
  Q9HC03 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y673 ENTREZGENE
UniProt Secondary B4DR37 UniProtKB/Swiss-Prot
  Q5TBA6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 ALG5  ALG5 dolichyl-phosphate beta-glucosyltransferase  ALG5  ALG5, dolichyl-phosphate beta-glucosyltransferase  Symbol and/or name change 5135510 APPROVED
2013-02-27 ALG5  ALG5, dolichyl-phosphate beta-glucosyltransferase  ALG5  asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED