GALNT17 (polypeptide N-acetylgalactosaminyltransferase 17) - Rat Genome Database

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Gene: GALNT17 (polypeptide N-acetylgalactosaminyltransferase 17) Homo sapiens
Analyze
Symbol: GALNT17
Name: polypeptide N-acetylgalactosaminyltransferase 17
RGD ID: 1342451
HGNC Page HGNC:16347
Description: Predicted to enable polypeptide N-acetylgalactosaminyltransferase activity. Predicted to be involved in protein O-linked glycosylation. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp434I2216; DKFZp761D2324; galNAc-T-like protein 3; GalNAc-T17; GalNAc-T19; GalNAc-T5L; GALNACT17; GALNT16; GALNT20; GALNTL3; polypeptide GalNAc transferase 3; polypeptide GalNAc transferase-like protein 3; polypeptide N-acetylgalactosaminyltransferase WBSCR17; polypeptide N-acetylgalactosaminyltransferase-like 3; pp-GalNAc-transferase 20; pp-GaNTase-like protein 3; ppGalNAc-T17; protein-UDP acetylgalactosaminyltransferase-like protein 3; putative polypeptide N-acetylgalactosaminyltransferase-like protein 3; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16; WBSCR17; williams-Beuren syndrome chromosomal region 17 protein; Williams-Beuren syndrome chromosome region 17
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
GRCh38771,132,144 - 71,713,599 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl771,132,144 - 71,713,600 (+)EnsemblGRCh38hg38GRCh38
GRCh37770,597,130 - 71,178,584 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36770,235,725 - 70,816,519 (+)NCBINCBI36Build 36hg18NCBI36
Build 34770,042,439 - 70,623,235NCBI
Celera763,974,185 - 64,554,073 (+)NCBICelera
Cytogenetic Map7q11.22NCBI
HuRef766,769,042 - 67,348,742 (+)NCBIHuRef
CHM1_1770,692,646 - 71,273,866 (+)NCBICHM1_1
T2T-CHM13v2.0772,350,331 - 72,931,329 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2769,931,481 - 70,512,471 (+)NCBI
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

Biological Process

Cellular Component
Golgi apparatus  (IBA,IEA)
Golgi membrane  (IEA)
membrane  (IEA)

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7566098   PMID:11013070   PMID:12073013   PMID:12477932   PMID:12690205   PMID:14702039   PMID:15489334   PMID:15744064   PMID:19240061   PMID:20379614   PMID:21873635   PMID:22566498  
PMID:22787146   PMID:23377640   PMID:24939585   PMID:27876814   PMID:28700943   PMID:32310270   PMID:32798559  


Genomics

Comparative Map Data
GALNT17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38771,132,144 - 71,713,599 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl771,132,144 - 71,713,600 (+)EnsemblGRCh38hg38GRCh38
GRCh37770,597,130 - 71,178,584 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36770,235,725 - 70,816,519 (+)NCBINCBI36Build 36hg18NCBI36
Build 34770,042,439 - 70,623,235NCBI
Celera763,974,185 - 64,554,073 (+)NCBICelera
Cytogenetic Map7q11.22NCBI
HuRef766,769,042 - 67,348,742 (+)NCBIHuRef
CHM1_1770,692,646 - 71,273,866 (+)NCBICHM1_1
T2T-CHM13v2.0772,350,331 - 72,931,329 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2769,931,481 - 70,512,471 (+)NCBI
Galnt17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395130,903,181 - 131,336,360 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5130,900,923 - 131,337,335 (-)EnsemblGRCm39 Ensembl
GRCm385130,874,343 - 131,307,522 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5130,872,082 - 131,308,497 (-)EnsemblGRCm38mm10GRCm38
MGSCv375131,350,821 - 131,783,392 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365131,159,654 - 131,591,621 (-)NCBIMGSCv36mm8
MGSCv365129,354,156 - 129,800,320 (-)NCBIMGSCv36mm8
Celera5127,887,923 - 128,321,088 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map570.66NCBI
Galnt17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81230,959,460 - 31,418,150 (+)NCBIGRCr8
mRatBN7.21225,323,230 - 25,781,897 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1225,322,701 - 25,781,290 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1226,477,975 - 26,925,536 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01227,088,448 - 27,536,028 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01226,147,336 - 26,596,407 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01228,381,879 - 29,268,457 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1228,381,982 - 29,268,073 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01230,342,777 - 30,922,308 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01231,188,190 - 31,212,714 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41226,294,280 - 26,820,070 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1227,052,564 - 27,503,433 (+)NCBICelera
Cytogenetic Map12q12NCBI
Galnt17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554569,614,122 - 10,066,311 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554569,612,734 - 10,067,396 (-)NCBIChiLan1.0ChiLan1.0
GALNT17
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2684,187,762 - 84,770,109 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17132,514,913 - 133,097,263 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0766,355,754 - 66,937,769 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1779,027,348 - 79,589,197 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl779,027,531 - 79,587,744 (+)Ensemblpanpan1.1panPan2
GALNT17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.162,131,465 - 2,563,823 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl62,132,189 - 2,564,042 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha63,826,037 - 4,262,103 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.061,938,385 - 2,381,618 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl61,942,357 - 2,381,649 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.161,867,785 - 2,303,449 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.061,880,110 - 2,315,921 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.062,047,393 - 2,483,704 (-)NCBIUU_Cfam_GSD_1.0
Galnt17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344127,257,578 - 127,613,342 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365436,423,874 - 6,778,798 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365436,423,485 - 6,779,179 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GALNT17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl315,026,772 - 15,450,615 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1315,026,350 - 15,450,625 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2315,282,879 - 15,666,048 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GALNT17
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1283,637,321 - 4,227,765 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl283,638,790 - 4,227,497 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607012,368,906 - 12,959,570 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Galnt17
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247409,640,736 - 10,129,920 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247409,640,962 - 10,131,238 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GALNT17
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11		 pathogenic
GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1 copy number loss See cases [RCV000050606] Chr7:64657050..72243063 [GRCh38]
Chr7:64117428..71708048 [GRCh37]
Chr7:63754863..71345984 [NCBI36]
Chr7:7q11.21-11.22		 pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1 copy number loss See cases [RCV000052321] Chr7:68668307..73710276 [GRCh38]
Chr7:68133294..72806397 [GRCh37]
Chr7:67771230..72762542 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.22(chr7:70509663-71957634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053443]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053443]|See cases [RCV000053443] Chr7:70509663..71957634 [GRCh38]
Chr7:69974649..71422619 [GRCh37]
Chr7:69612585..71060555 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
NM_022479.2(WBSCR17):c.325G>A (p.Glu109Lys) single nucleotide variant Malignant melanoma [RCV000067923] Chr7:71335636 [GRCh38]
Chr7:70800622 [GRCh37]
Chr7:70438558 [NCBI36]
Chr7:7q11.22		 not provided
NM_022479.2(WBSCR17):c.512C>T (p.Ser171Phe) single nucleotide variant Malignant melanoma [RCV000067924] Chr7:71388324 [GRCh38]
Chr7:70853310 [GRCh37]
Chr7:70491246 [NCBI36]
Chr7:7q11.22		 not provided
NM_022479.2(WBSCR17):c.682C>T (p.Arg228Cys) single nucleotide variant Malignant melanoma [RCV000061667] Chr7:71415981 [GRCh38]
Chr7:70880967 [GRCh37]
Chr7:70518903 [NCBI36]
Chr7:7q11.22		 not provided
NM_022479.2(WBSCR17):c.954C>T (p.Leu318=) single nucleotide variant Malignant melanoma [RCV000061668] Chr7:71421097 [GRCh38]
Chr7:70886083 [GRCh37]
Chr7:70524019 [NCBI36]
Chr7:7q11.22		 not provided
NM_022479.2(WBSCR17):c.1077C>T (p.Ile359=) single nucleotide variant Malignant melanoma [RCV000061669] Chr7:71571399 [GRCh38]
Chr7:71036384 [GRCh37]
Chr7:70674320 [NCBI36]
Chr7:7q11.22		 not provided
NM_022479.2(WBSCR17):c.238+5484G>A single nucleotide variant Lung cancer [RCV000106428] Chr7:71138524 [GRCh38]
Chr7:70603510 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.239-73509G>T single nucleotide variant Lung cancer [RCV000106429] Chr7:71262041 [GRCh38]
Chr7:70727027 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.423-15864G>T single nucleotide variant Lung cancer [RCV000106430] Chr7:71372371 [GRCh38]
Chr7:70837357 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.963-53374T>C single nucleotide variant Lung cancer [RCV000106433] Chr7:71517911 [GRCh38]
Chr7:70982896 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.963-51095C>T single nucleotide variant Lung cancer [RCV000106434] Chr7:71520190 [GRCh38]
Chr7:70985175 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.963-47885G>T single nucleotide variant Lung cancer [RCV000106435] Chr7:71523400 [GRCh38]
Chr7:70988385 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.963-27135G>T single nucleotide variant Lung cancer [RCV000106436] Chr7:71544150 [GRCh38]
Chr7:71009135 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.1080+33122G>T single nucleotide variant Lung cancer [RCV000106437] Chr7:71604524 [GRCh38]
Chr7:71069509 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.1080+40975A>C single nucleotide variant Lung cancer [RCV000106438] Chr7:71612377 [GRCh38]
Chr7:71077362 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.1081-43235G>A single nucleotide variant Lung cancer [RCV000106439] Chr7:71622176 [GRCh38]
Chr7:71087161 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.1081-42347G>T single nucleotide variant Lung cancer [RCV000106440] Chr7:71623064 [GRCh38]
Chr7:71088049 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.1081-36597C>A single nucleotide variant Lung cancer [RCV000106441] Chr7:71628814 [GRCh38]
Chr7:71093799 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.1081-30969G>C single nucleotide variant Lung cancer [RCV000106442] Chr7:71634442 [GRCh38]
Chr7:71099427 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.962+30413C>A single nucleotide variant Lung cancer [RCV000106431] Chr7:71451518 [GRCh38]
Chr7:70916503 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.2(WBSCR17):c.962+53320A>G single nucleotide variant Lung cancer [RCV000106432] Chr7:71474425 [GRCh38]
Chr7:70939410 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22(chr7:71590242-71808650)x3 copy number gain See cases [RCV000134322] Chr7:71590242..71808650 [GRCh38]
Chr7:71055227..71273635 [GRCh37]
Chr7:70693163..70911571 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.22(chr7:70792749-72444391)x1 copy number loss See cases [RCV000134945] Chr7:70792749..72444391 [GRCh38]
Chr7:70257735..71909376 [GRCh37]
Chr7:69895671..71547312 [NCBI36]
Chr7:7q11.22		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1 copy number loss See cases [RCV000135816] Chr7:71461127..73614730 [GRCh38]
Chr7:70926112..72806397 [GRCh37]
Chr7:70564048..72666996 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71148562-72895414)x1 copy number loss See cases [RCV000138955] Chr7:71148562..72895414 [GRCh38]
Chr7:70613548..72365951 [GRCh37]
Chr7:70251484..72003887 [NCBI36]
Chr7:7q11.22-11.23		 uncertain significance
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 copy number gain See cases [RCV000142242] Chr7:62977085..75415352 [GRCh38]
Chr7:62437463..75044630 [GRCh37]
Chr7:62074898..74882566 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 copy number loss See cases [RCV000142528] Chr7:62736364..75432710 [GRCh38]
Chr7:62196742..75061986 [GRCh37]
Chr7:61834177..74899922 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1 copy number loss See cases [RCV000143344] Chr7:71478043..73444574 [GRCh38]
Chr7:70943028..72806397 [GRCh37]
Chr7:70580964..72496840 [NCBI36]
Chr7:7q11.22-11.23		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.22(chr7:71008585-71723377)x3 copy number gain See cases [RCV000510681] Chr7:71008585..71723377 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1 copy number loss See cases [RCV000511553] Chr7:63583563..71047246 [GRCh37]
Chr7:7q11.21-11.22		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_022479.3(GALNT17):c.38T>G (p.Leu13Trp) single nucleotide variant Inborn genetic diseases [RCV003276561] Chr7:71132840 [GRCh38]
Chr7:70597826 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.3(GALNT17):c.299C>T (p.Pro100Leu) single nucleotide variant Inborn genetic diseases [RCV003306008] Chr7:71335610 [GRCh38]
Chr7:70800596 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.22(chr7:70000869-70780062)x3 copy number gain See cases [RCV000512538] Chr7:70000869..70780062 [GRCh37]
Chr7:7q11.22		 likely benign
GRCh37/hg19 7q11.22(chr7:71014126-71283581)x4 copy number gain not provided [RCV000682814] Chr7:71014126..71283581 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.22(chr7:67638834-71764461)x1 copy number loss not provided [RCV000682905] Chr7:67638834..71764461 [GRCh37]
Chr7:7q11.22		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.22(chr7:71026463-71280299)x3 copy number gain not provided [RCV000746775] Chr7:71026463..71280299 [GRCh37]
Chr7:7q11.22		 benign
NM_022479.3(GALNT17):c.589+9G>A single nucleotide variant not provided [RCV000969950] Chr7:71388410 [GRCh38]
Chr7:70853396 [GRCh37]
Chr7:7q11.22		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_022479.3(GALNT17):c.1260G>A (p.Pro420=) single nucleotide variant not provided [RCV000922671] Chr7:71665590 [GRCh38]
Chr7:71130575 [GRCh37]
Chr7:7q11.22		 benign
GRCh37/hg19 7q11.22(chr7:71028996-71283449)x3 copy number gain not provided [RCV000848342] Chr7:71028996..71283449 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.22(chr7:71028996-71283449)x3 copy number gain not provided [RCV000848340] Chr7:71028996..71283449 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.22(chr7:71135762-71461934)x3 copy number gain not provided [RCV001005966] Chr7:71135762..71461934 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.22(chr7:70729279-71014137)x3 copy number gain not provided [RCV002473684] Chr7:70729279..71014137 [GRCh37]
Chr7:7q11.22		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.22(chr7:69250058-71604236) copy number loss not specified [RCV002053693] Chr7:69250058..71604236 [GRCh37]
Chr7:7q11.22		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_022479.3(GALNT17):c.1540G>A (p.Ala514Thr) single nucleotide variant Inborn genetic diseases [RCV003205480] Chr7:71710800 [GRCh38]
Chr7:71175785 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.3(GALNT17):c.583G>A (p.Asp195Asn) single nucleotide variant Inborn genetic diseases [RCV003363790] Chr7:71388395 [GRCh38]
Chr7:70853381 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.3(GALNT17):c.919C>G (p.Pro307Ala) single nucleotide variant Inborn genetic diseases [RCV003366509] Chr7:71421062 [GRCh38]
Chr7:70886048 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_022479.3(GALNT17):c.1601G>A (p.Arg534Gln) single nucleotide variant Inborn genetic diseases [RCV003378081] Chr7:71710861 [GRCh38]
Chr7:71175846 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3 copy number gain not specified [RCV003986715] Chr7:66776724..74629034 [GRCh37]
Chr7:7q11.21-11.23		 pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1 copy number loss not provided [RCV001260005] Chr7:68977230..73939510 [GRCh37]
Chr7:7q11.22-11.23		 pathogenic
NC_000007.13:g.70236723_72383418del deletion Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [RCV000162213] Chr7:70236723..72383418 [GRCh37]
Chr7:7q11.22-11.23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1433
Count of miRNA genes:767
Interacting mature miRNAs:896
Transcripts:ENST00000333538, ENST00000447516, ENST00000467723, ENST00000498380
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.

Markers in Region
D7S2516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,114,519 - 71,114,741UniSTSGRCh37
Build 36770,752,455 - 70,752,677RGDNCBI36
Celera764,490,895 - 64,491,117RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,285,514 - 67,285,736UniSTS
CRA_TCAGchr7v2770,449,278 - 70,449,500UniSTS
Marshfield Genetic Map783.99RGD
Marshfield Genetic Map783.99UniSTS
Genethon Genetic Map784.4UniSTS
deCODE Assembly Map783.51UniSTS
Stanford-G3 RH Map73081.0UniSTS
NCBI RH Map7869.9UniSTS
GeneMap99-G3 RH Map73081.0UniSTS
WI-20075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,178,249 - 71,178,508UniSTSGRCh37
Build 36770,816,185 - 70,816,444RGDNCBI36
Celera764,553,738 - 64,553,997RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,348,405 - 67,348,664UniSTS
CRA_TCAGchr7v2770,512,134 - 70,512,393UniSTS
GeneMap99-GB4 RH Map7428.76UniSTS
Whitehead-RH Map7369.0UniSTS
GDB:1317364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37770,899,723 - 70,899,814UniSTSGRCh37
Build 36770,537,659 - 70,537,750RGDNCBI36
Celera764,276,052 - 64,276,143RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,070,811 - 67,070,902UniSTS
CRA_TCAGchr7v2770,233,692 - 70,233,783UniSTS
RH66296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,178,349 - 71,178,502UniSTSGRCh37
Build 36770,816,285 - 70,816,438RGDNCBI36
Celera764,553,838 - 64,553,991RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,348,505 - 67,348,658UniSTS
CRA_TCAGchr7v2770,512,234 - 70,512,387UniSTS
GeneMap99-GB4 RH Map7416.94UniSTS
NCBI RH Map7878.7UniSTS
G17161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37770,725,457 - 70,725,560UniSTSGRCh37
Build 36770,363,393 - 70,363,496RGDNCBI36
Celera764,101,849 - 64,101,952RGD
Cytogenetic Map7q11.23UniSTS
HuRef766,896,601 - 66,896,704UniSTS
CRA_TCAGchr7v2770,059,400 - 70,059,503UniSTS
RH65189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,767,933 - 78,768,118UniSTSGRCh37
GRCh37771,139,424 - 71,139,483UniSTSGRCh37
Build 36770,777,360 - 70,777,419RGDNCBI36
Celera764,515,764 - 64,515,823RGD
Celera1555,704,469 - 55,704,654UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q36.3UniSTS
HuRef1555,525,331 - 55,525,516UniSTS
HuRef7152,458,920 - 152,459,117UniSTS
CRA_TCAGchr7v2770,474,149 - 70,474,208UniSTS
SHGC-104886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37770,723,704 - 70,723,994UniSTSGRCh37
Build 36770,361,640 - 70,361,930RGDNCBI36
Celera764,100,096 - 64,100,386RGD
Cytogenetic Map7q11.23UniSTS
HuRef766,894,848 - 66,895,138UniSTS
CRA_TCAGchr7v2770,057,647 - 70,057,937UniSTS
TNG Radiation Hybrid Map748707.0UniSTS
SHGC-153010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,114,431 - 71,114,769UniSTSGRCh37
Build 36770,752,367 - 70,752,705RGDNCBI36
Celera764,490,807 - 64,491,145RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,285,426 - 67,285,764UniSTS
CRA_TCAGchr7v2770,449,190 - 70,449,528UniSTS
SHGC-83093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,044,302 - 71,044,593UniSTSGRCh37
Build 36770,682,238 - 70,682,529RGDNCBI36
Celera764,420,619 - 64,420,910RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,215,243 - 67,215,534UniSTS
CRA_TCAGchr7v2770,379,036 - 70,379,327UniSTS
TNG Radiation Hybrid Map748596.0UniSTS
SHGC-84166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37770,856,007 - 70,856,334UniSTSGRCh37
Build 36770,493,943 - 70,494,270RGDNCBI36
Celera764,232,343 - 64,232,670RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,027,086 - 67,027,413UniSTS
CRA_TCAGchr7v2770,189,975 - 70,190,302UniSTS
TNG Radiation Hybrid Map748658.0UniSTS
D7S1979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37770,879,602 - 70,879,763UniSTSGRCh37
Build 36770,517,538 - 70,517,699RGDNCBI36
Celera764,255,929 - 64,256,090RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,050,689 - 67,050,850UniSTS
CRA_TCAGchr7v2770,213,569 - 70,213,730UniSTS
GDB:4584959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37770,697,017 - 70,697,082UniSTSGRCh37
Build 36770,334,953 - 70,335,018RGDNCBI36
Celera764,073,409 - 64,073,474RGD
Cytogenetic Map7q11.23UniSTS
HuRef766,868,160 - 66,868,225UniSTS
CRA_TCAGchr7v2770,030,961 - 70,031,026UniSTS
D7S1407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,096,467 - 71,096,556UniSTSGRCh37
Build 36770,734,403 - 70,734,492RGDNCBI36
Celera764,472,841 - 64,472,930RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,267,461 - 67,267,550UniSTS
CRA_TCAGchr7v2770,431,225 - 70,431,314UniSTS
GDB:4585200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,134,987 - 71,135,060UniSTSGRCh37
Build 36770,772,923 - 70,772,996RGDNCBI36
Celera764,511,324 - 64,511,397RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,305,805 - 67,305,878UniSTS
CRA_TCAGchr7v2770,469,709 - 70,469,782UniSTS
GDB:3778209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37770,666,017 - 70,666,166UniSTSGRCh37
Build 36770,303,953 - 70,304,102RGDNCBI36
Celera764,042,410 - 64,042,559RGD
Cytogenetic Map7q11.23UniSTS
HuRef766,837,166 - 66,837,315UniSTS
CRA_TCAGchr7v2769,999,964 - 70,000,113UniSTS
D7S1568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,137,170 - 71,137,263UniSTSGRCh37
Build 36770,775,106 - 70,775,199RGDNCBI36
Celera764,513,511 - 64,513,604RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,307,986 - 67,308,079UniSTS
CRA_TCAGchr7v2770,471,896 - 70,471,989UniSTS
STS-H15176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,178,302 - 71,178,538UniSTSGRCh37
Build 36770,816,238 - 70,816,474RGDNCBI36
Celera764,553,791 - 64,554,027RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,348,458 - 67,348,694UniSTS
CRA_TCAGchr7v2770,512,187 - 70,512,423UniSTS
GeneMap99-GB4 RH Map7413.23UniSTS
NCBI RH Map7872.2UniSTS
D7S2270E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,178,405 - 71,178,568UniSTSGRCh37
Build 36770,816,341 - 70,816,504RGDNCBI36
Celera764,553,894 - 64,554,057RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,348,561 - 67,348,724UniSTS
CRA_TCAGchr7v2770,512,290 - 70,512,453UniSTS
GDB:3754866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,114,662 - 71,114,740UniSTSGRCh37
Build 36770,752,598 - 70,752,676RGDNCBI36
Celera764,491,038 - 64,491,116RGD
Cytogenetic Map7q11.23UniSTS
HuRef767,285,657 - 67,285,735UniSTS
CRA_TCAGchr7v2770,449,421 - 70,449,499UniSTS
G54788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37770,943,956 - 70,944,292UniSTSGRCh37
Celera764,320,289 - 64,320,625UniSTS
Cytogenetic Map7q11.23UniSTS
HuRef767,114,941 - 67,115,277UniSTS
CRA_TCAGchr7v2770,277,926 - 70,278,262UniSTS


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 1258 1417 711 1 42 1 1511 1090 2795 66 703 793 44 1288
Low 981 719 608 233 423 73 2580 1003 842 198 610 613 163 1 1126 1418 2 1
Below cutoff 81 744 314 308 759 306 183 79 40 72 62 49 3 34 82

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_022479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB078148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF410457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ626726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE669980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000333538   ⟹   ENSP00000329654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl771,132,144 - 71,713,599 (+)Ensembl
RefSeq Acc Id: ENST00000447516   ⟹   ENSP00000392019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl771,300,331 - 71,415,931 (+)Ensembl
RefSeq Acc Id: ENST00000467723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl771,300,742 - 71,713,598 (+)Ensembl
RefSeq Acc Id: ENST00000498380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl771,283,996 - 71,713,600 (+)Ensembl
RefSeq Acc Id: ENST00000618959   ⟹   ENSP00000479090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl771,335,549 - 71,713,598 (+)Ensembl
RefSeq Acc Id: NM_022479   ⟹   NP_071924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,132,144 - 71,713,599 (+)NCBI
GRCh37770,597,523 - 71,178,586 (+)NCBI
Build 36770,235,725 - 70,816,519 (+)NCBI Archive
Celera763,974,185 - 64,554,073 (+)RGD
HuRef766,769,042 - 67,348,742 (+)NCBI
CHM1_1770,692,646 - 71,273,866 (+)NCBI
T2T-CHM13v2.0772,350,331 - 72,931,329 (+)NCBI
CRA_TCAGchr7v2769,931,481 - 70,512,471 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516467   ⟹   XP_011514769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,132,144 - 71,707,113 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516469   ⟹   XP_011514771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,132,144 - 71,488,572 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017012521   ⟹   XP_016868010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,132,144 - 71,582,579 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054358799   ⟹   XP_054214774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,350,331 - 72,926,723 (+)NCBI
RefSeq Acc Id: XM_054358800   ⟹   XP_054214775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,350,331 - 72,800,695 (+)NCBI
RefSeq Acc Id: XM_054358801   ⟹   XP_054214776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,350,331 - 72,706,724 (+)NCBI
Protein Sequences
Protein RefSeqs NP_071924 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514769 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514771 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868010 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214774 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214775 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214776 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH67524 (Get FASTA)   NCBI Sequence Viewer  
  AAH67525 (Get FASTA)   NCBI Sequence Viewer  
  AAH69624 (Get FASTA)   NCBI Sequence Viewer  
  AAH69628 (Get FASTA)   NCBI Sequence Viewer  
  AAH69636 (Get FASTA)   NCBI Sequence Viewer  
  AAH69645 (Get FASTA)   NCBI Sequence Viewer  
  AAH69997 (Get FASTA)   NCBI Sequence Viewer  
  AAM62306 (Get FASTA)   NCBI Sequence Viewer  
  BAD93180 (Get FASTA)   NCBI Sequence Viewer  
  BAF82725 (Get FASTA)   NCBI Sequence Viewer  
  BAG52344 (Get FASTA)   NCBI Sequence Viewer  
  BAG52964 (Get FASTA)   NCBI Sequence Viewer  
  BAG54282 (Get FASTA)   NCBI Sequence Viewer  
  CAB70734 (Get FASTA)   NCBI Sequence Viewer  
  CAF25037 (Get FASTA)   NCBI Sequence Viewer  
  CAH18466 (Get FASTA)   NCBI Sequence Viewer  
  EAL23969 (Get FASTA)   NCBI Sequence Viewer  
  EAX07897 (Get FASTA)   NCBI Sequence Viewer  
  EAX07898 (Get FASTA)   NCBI Sequence Viewer  
  EAX07899 (Get FASTA)   NCBI Sequence Viewer  
  EAX07900 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000329654
  ENSP00000329654.5
  ENSP00000392019.1
GenBank Protein Q6IS24 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_071924   ⟸   NM_022479
- UniProtKB: Q8NFV9 (UniProtKB/Swiss-Prot),   Q9NTA8 (UniProtKB/Swiss-Prot),   Q6IS24 (UniProtKB/Swiss-Prot),   Q2L4S5 (UniProtKB/TrEMBL),   Q58A53 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514769   ⟸   XM_011516467
- Peptide Label: isoform X1
- UniProtKB: Q58A53 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514771   ⟸   XM_011516469
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868010   ⟸   XM_017012521
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000329654   ⟸   ENST00000333538
RefSeq Acc Id: ENSP00000479090   ⟸   ENST00000618959
RefSeq Acc Id: ENSP00000392019   ⟸   ENST00000447516
RefSeq Acc Id: XP_054214774   ⟸   XM_054358799
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214775   ⟸   XM_054358800
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054214776   ⟸   XM_054358801
- Peptide Label: isoform X3
Protein Domains
Glycosyltransferase 2-like   Ricin B lectin   Ricin B-type lectin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6IS24-F1-model_v2 AlphaFold Q6IS24 1-598 view protein structure

Promoters
RGD ID:7210731
Promoter ID:EPDNEW_H11111
Type:initiation region
Name:WBSCR17_2
Description:Williams-Beuren syndrome chromosome region 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11112  EPDNEW_H11113  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,131,672 - 71,131,732EPDNEW
RGD ID:7210733
Promoter ID:EPDNEW_H11112
Type:initiation region
Name:WBSCR17_3
Description:Williams-Beuren syndrome chromosome region 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11111  EPDNEW_H11113  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,131,845 - 71,131,905EPDNEW
RGD ID:7210735
Promoter ID:EPDNEW_H11113
Type:initiation region
Name:WBSCR17_1
Description:Williams-Beuren syndrome chromosome region 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11111  EPDNEW_H11112  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,132,200 - 71,132,260EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16347 AgrOrtholog
COSMIC GALNT17 COSMIC
Ensembl Genes ENSG00000185274 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000333538 ENTREZGENE
  ENST00000333538.10 UniProtKB/Swiss-Prot
  ENST00000447516.5 UniProtKB/TrEMBL
Gene3D-CATH 2.80.10.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185274 GTEx
HGNC ID HGNC:16347 ENTREZGENE
Human Proteome Map GALNT17 Human Proteome Map
InterPro GalNAc-T UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_trans_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ricin_B-like_lectins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ricin_B_lectin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 64409 ENTREZGENE
OMIM 615137 OMIM
PANTHER N-ACETYLGALACTOSAMINYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glycos_transf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ricin_B_lectin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38124 PharmGKB
PROSITE RICIN_B_LECTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RICIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt GLT17_HUMAN UniProtKB/Swiss-Prot
  H7BZX9_HUMAN UniProtKB/TrEMBL
  Q2L4S5 ENTREZGENE, UniProtKB/TrEMBL
  Q58A53 ENTREZGENE, UniProtKB/TrEMBL
  Q6IS24 ENTREZGENE
  Q8NFV9 ENTREZGENE
  Q9NTA8 ENTREZGENE
UniProt Secondary Q8NFV9 UniProtKB/Swiss-Prot
  Q9NTA8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-09 GALNT17  polypeptide N-acetylgalactosaminyltransferase 17  WBSCR17  Williams-Beuren syndrome chromosome region 17  Symbol and/or name change 5135510 APPROVED