GALNTL6 (polypeptide N-acetylgalactosaminyltransferase like 6) - Rat Genome Database

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Gene: GALNTL6 (polypeptide N-acetylgalactosaminyltransferase like 6) Homo sapiens
Analyze
Symbol: GALNTL6
Name: polypeptide N-acetylgalactosaminyltransferase like 6
RGD ID: 2301498
HGNC Page HGNC:33844
Description: Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via threonine. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: GalNAc transferase 17; galNAc-T17; GalNAc-T6L; GALNACT20; GALNT17; GaNTase 17; MGC44629; polypeptide GalNAc transferase 17; polypeptide GalNAc transferase-like 6; polypeptide N-acetylgalactosaminyltransferase-like 6; pp-GaNTase 17; protein-UDP acetylgalactosaminyltransferase 17; putative polypeptide N-acetylgalactosaminyltransferase 17; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 20; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6
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
GRCh384171,813,404 - 173,041,559 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4171,812,254 - 173,041,559 (+)EnsemblGRCh38hg38GRCh38
GRCh374172,734,555 - 173,962,710 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364172,971,229 - 174,199,285 (+)NCBINCBI36Build 36hg18NCBI36
Celera4170,062,968 - 171,286,585 (+)NCBICelera
Cytogenetic Map4q34.1NCBI
HuRef4168,485,006 - 169,708,955 (+)NCBIHuRef
CHM1_14172,710,999 - 173,938,017 (+)NCBICHM1_1
T2T-CHM13v2.04175,165,678 - 176,380,965 (+)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

Biological Process

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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
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:12477932   PMID:14702039   PMID:18519826   PMID:20379614   PMID:20977886   PMID:21873635   PMID:22186971   PMID:29676528   PMID:31586073   PMID:33105351  


Genomics

Comparative Map Data
GALNTL6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384171,813,404 - 173,041,559 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4171,812,254 - 173,041,559 (+)EnsemblGRCh38hg38GRCh38
GRCh374172,734,555 - 173,962,710 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364172,971,229 - 174,199,285 (+)NCBINCBI36Build 36hg18NCBI36
Celera4170,062,968 - 171,286,585 (+)NCBICelera
Cytogenetic Map4q34.1NCBI
HuRef4168,485,006 - 169,708,955 (+)NCBIHuRef
CHM1_14172,710,999 - 173,938,017 (+)NCBICHM1_1
T2T-CHM13v2.04175,165,678 - 176,380,965 (+)NCBIT2T-CHM13v2.0
Galntl6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39858,225,523 - 59,366,213 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl858,227,086 - 59,365,674 (-)EnsemblGRCm39 Ensembl
GRCm38857,772,489 - 58,912,531 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl857,774,052 - 58,912,640 (-)EnsemblGRCm38mm10GRCm38
MGSCv37860,255,020 - 61,390,424 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36861,319,636 - 61,803,769 (-)NCBIMGSCv36mm8
Celera860,409,916 - 61,526,480 (-)NCBICelera
Cytogenetic Map8B2NCBI
cM Map830.72NCBI
Galntl6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81636,203,674 - 37,454,709 (+)NCBIGRCr8
mRatBN7.21631,192,880 - 32,443,979 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1631,186,462 - 32,441,960 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1634,789,710 - 36,042,575 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01638,223,431 - 39,453,912 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01634,410,329 - 35,673,060 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01634,551,052 - 35,803,840 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1635,573,058 - 35,802,979 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01634,380,195 - 35,619,972 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41634,557,663 - 35,853,849 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1631,164,115 - 32,391,302 (+)NCBICelera
Cytogenetic Map16p12-p11NCBI
Galntl6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540333,920,869 - 34,940,513 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540333,920,850 - 34,941,539 (-)NCBIChiLan1.0ChiLan1.0
GALNTL6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23169,566,332 - 170,802,323 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14169,946,524 - 171,183,408 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04164,033,081 - 165,270,337 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14176,315,593 - 177,506,548 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4176,492,344 - 177,507,694 (+)Ensemblpanpan1.1panPan2
GALNTL6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12522,540,129 - 23,698,714 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2522,541,138 - 23,697,860 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2523,181,504 - 24,346,149 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02522,697,788 - 23,856,830 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2522,698,809 - 23,857,005 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12522,621,466 - 23,805,080 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02522,531,447 - 23,692,294 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02522,687,620 - 23,845,411 (+)NCBIUU_Cfam_GSD_1.0
Galntl6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494322,836,685 - 23,884,563 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365163,252,149 - 4,295,728 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365163,251,015 - 4,297,162 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GALNTL6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1416,933,292 - 18,143,672 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11416,932,854 - 18,147,724 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21418,851,657 - 19,437,202 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GALNTL6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17117,959,017 - 119,158,744 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603797,952,397 - 99,173,168 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Galntl6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247693,383,532 - 4,537,902 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247693,382,769 - 4,539,805 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GALNTL6
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2		 pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-34.3(chr4:171507504-181381327)x3 copy number gain See cases [RCV000051793] Chr4:171507504..181381327 [GRCh38]
Chr4:172428655..182302480 [GRCh37]
Chr4:172665230..182539474 [NCBI36]
Chr4:4q34.1-34.3		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1 copy number loss See cases [RCV000053326] Chr4:162723818..172501433 [GRCh38]
Chr4:163644970..173422584 [GRCh37]
Chr4:163864420..173659159 [NCBI36]
Chr4:4q32.2-34.1		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-34.1(chr4:167851017-172200428)x1 copy number loss See cases [RCV000053348] Chr4:167851017..172200428 [GRCh38]
Chr4:168772168..173121579 [GRCh37]
Chr4:169008743..173358154 [NCBI36]
Chr4:4q32.3-34.1		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1 copy number loss See cases [RCV000053350] Chr4:171851295..178772816 [GRCh38]
Chr4:172772446..179693970 [GRCh37]
Chr4:173009021..179930964 [NCBI36]
Chr4:4q34.1-34.3		 pathogenic
GRCh38/hg38 4q34.1(chr4:172101363-173820899)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053351]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053351]|See cases [RCV000053351] Chr4:172101363..173820899 [GRCh38]
Chr4:173022514..174742050 [GRCh37]
Chr4:173259089..174978625 [NCBI36]
Chr4:4q34.1		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
NM_001034845.2(GALNTL6):c.713A>G (p.Asn238Ser) single nucleotide variant Malignant melanoma [RCV000060949] Chr4:172809520 [GRCh38]
Chr4:173730671 [GRCh37]
Chr4:173967246 [NCBI36]
Chr4:4q34.1		 not provided
NM_001034845.2(GALNTL6):c.138+86533T>C single nucleotide variant Lung cancer [RCV000094337] Chr4:171901251 [GRCh38]
Chr4:172822402 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.2(GALNTL6):c.138+207362T>C single nucleotide variant Lung cancer [RCV000094338] Chr4:172022080 [GRCh38]
Chr4:172943231 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.2(GALNTL6):c.139-70922G>T single nucleotide variant Lung cancer [RCV000094339] Chr4:172158734 [GRCh38]
Chr4:173079885 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.2(GALNTL6):c.387-1512A>G single nucleotide variant Lung cancer [RCV000094340] Chr4:172347011 [GRCh38]
Chr4:173268162 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.2(GALNTL6):c.554-178803G>T single nucleotide variant Lung cancer [RCV000094344] Chr4:172630558 [GRCh38]
Chr4:173551709 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.2(GALNTL6):c.554-82919C>G single nucleotide variant Lung cancer [RCV000094345] Chr4:172726442 [GRCh38]
Chr4:173647593 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.2(GALNTL6):c.1041+7493T>A single nucleotide variant Lung cancer [RCV000094347] Chr4:172890400 [GRCh38]
Chr4:173811551 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.2(GALNTL6):c.1638+7687T>C single nucleotide variant Lung cancer [RCV000094348] Chr4:173029312 [GRCh38]
Chr4:173950463 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2		 uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q33-34.1(chr4:170477367-173073936)x1 copy number loss See cases [RCV000140404] Chr4:170477367..173073936 [GRCh38]
Chr4:171398518..173995087 [GRCh37]
Chr4:171635093..174231662 [NCBI36]
Chr4:4q33-34.1		 likely benign
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960) copy number loss See cases [RCV000141653] Chr4:166630207..179820960 [GRCh38]
Chr4:167551358..180742113 [GRCh37]
Chr4:167770808..180979107 [NCBI36]
Chr4:4q32.3-34.3		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1(chr4:172200228-172684931)x1 copy number loss See cases [RCV000142716] Chr4:172200228..172684931 [GRCh38]
Chr4:173121379..173606082 [GRCh37]
Chr4:173357954..173842657 [NCBI36]
Chr4:4q34.1		 likely benign
GRCh38/hg38 4q34.1(chr4:171909804-172200287)x1 copy number loss See cases [RCV000142524] Chr4:171909804..172200287 [GRCh38]
Chr4:172830955..173121438 [GRCh37]
Chr4:173067530..173358013 [NCBI36]
Chr4:4q34.1		 likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
GRCh37/hg19 4q34.1(chr4:173873299-174090050)x4 copy number gain Breast ductal adenocarcinoma [RCV000207140] Chr4:173873299..174090050 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1 copy number loss See cases [RCV000239855] Chr4:162344510..177103037 [GRCh37]
Chr4:4q32.2-34.2		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 copy number loss See cases [RCV002292706] Chr4:167779888..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q34.1(chr4:172523893-173316244)x1 copy number loss See cases [RCV000448286] Chr4:172523893..173316244 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q34.1(chr4:172523893-172955362)x1 copy number loss See cases [RCV000512042] Chr4:172523893..172955362 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain See cases [RCV000510222] Chr4:166436844..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q34.1(chr4:172259270-172781635)x3 copy number gain See cases [RCV000512000] Chr4:172259270..172781635 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-34.2(chr4:173907396-176305880)x4 copy number gain See cases [RCV000510908] Chr4:173907396..176305880 [GRCh37]
Chr4:4q34.1-34.2		 uncertain significance
NM_001034845.3(GALNTL6):c.1520G>A (p.Arg507Gln) single nucleotide variant not specified [RCV004293811] Chr4:173021507 [GRCh38]
Chr4:173942658 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q34.1(chr4:172360849-172832692)x1 copy number loss See cases [RCV000512540] Chr4:172360849..172832692 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1 copy number loss See cases [RCV000512340] Chr4:162205710..182329883 [GRCh37]
Chr4:4q32.2-34.3		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 copy number loss not provided [RCV000682484] Chr4:169969014..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.1(chr4:173761915-174501054)x3 copy number gain not provided [RCV000682487] Chr4:173761915..174501054 [GRCh37]
Chr4:4q34.1		 uncertain significance
Single allele deletion not provided [RCV000677975] Chr4:164428194..173480785 [GRCh37]
Chr4:4q32.2-34.1		 likely pathogenic
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1		 pathogenic
GRCh37/hg19 4q34.1(chr4:173665386-173945068)x1 copy number loss not provided [RCV000682486] Chr4:173665386..173945068 [GRCh37]
Chr4:4q34.1		 likely benign|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.3-34.1(chr4:166431563-174837887)x1 copy number loss not provided [RCV000744125] Chr4:166431563..174837887 [GRCh37]
Chr4:4q32.3-34.1		 pathogenic
GRCh37/hg19 4q33-34.1(chr4:171261498-174016641)x1 copy number loss not provided [RCV000744144] Chr4:171261498..174016641 [GRCh37]
Chr4:4q33-34.1		 uncertain significance
GRCh37/hg19 4q34.1(chr4:172790557-172808394)x1 copy number loss not provided [RCV000744150] Chr4:172790557..172808394 [GRCh37]
Chr4:4q34.1		 benign
GRCh37/hg19 4q34.1(chr4:172979002-172992876)x0 copy number loss not provided [RCV000744151] Chr4:172979002..172992876 [GRCh37]
Chr4:4q34.1		 benign
GRCh37/hg19 4q34.1(chr4:173206315-173287704)x3 copy number gain not provided [RCV000744152] Chr4:173206315..173287704 [GRCh37]
Chr4:4q34.1		 benign
GRCh37/hg19 4q34.1(chr4:173419844-173431679)x0 copy number loss not provided [RCV000744153] Chr4:173419844..173431679 [GRCh37]
Chr4:4q34.1		 benign
GRCh37/hg19 4q34.1(chr4:173421039-173432234)x0 copy number loss not provided [RCV000744154] Chr4:173421039..173432234 [GRCh37]
Chr4:4q34.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) copy number loss not provided [RCV000767673] Chr4:171663620..190431429 [GRCh37]
Chr4:4q33-35.2		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787439] Chr4:171316973..180632505 [GRCh37]
Chr4:4q33-34.3		 pathogenic
GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3 copy number gain not provided [RCV000846267] Chr4:165069355..177189728 [GRCh37]
Chr4:4q32.3-34.2		 pathogenic
GRCh37/hg19 4q34.1(chr4:173710282-173948102)x3 copy number gain not provided [RCV001005622] Chr4:173710282..173948102 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:169607746..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
GRCh37/hg19 4q33-34.1(chr4:171508788-173150022)x3 copy number gain not provided [RCV000847104] Chr4:171508788..173150022 [GRCh37]
Chr4:4q33-34.1		 uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:166623890..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q33-34.1(chr4:171505226-173149981)x3 copy number gain not provided [RCV001005620] Chr4:171505226..173149981 [GRCh37]
Chr4:4q33-34.1		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.1(chr4:173092167-173482496)x3 copy number gain not provided [RCV001259885] Chr4:173092167..173482496 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1 copy number loss See cases [RCV001263167] Chr4:169108358..184425536 [GRCh37]
Chr4:4q32.3-35.1		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) copy number gain not specified [RCV002053465] Chr4:159755174..190225765 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q34.1(chr4:172720330-172781635)x1 copy number loss not provided [RCV001827628] Chr4:172720330..172781635 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q34.1(chr4:172523893-173316244) copy number loss not specified [RCV002053467] Chr4:172523893..173316244 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
NM_001034845.3(GALNTL6):c.293A>G (p.His98Arg) single nucleotide variant not specified [RCV004202749] Chr4:172311659 [GRCh38]
Chr4:173232810 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.376C>T (p.Arg126Cys) single nucleotide variant not specified [RCV004197078] Chr4:172311742 [GRCh38]
Chr4:173232893 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.800A>G (p.Asn267Ser) single nucleotide variant not specified [RCV004243884] Chr4:172813600 [GRCh38]
Chr4:173734751 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1111G>A (p.Val371Ile) single nucleotide variant not specified [RCV004087336] Chr4:172931230 [GRCh38]
Chr4:173852381 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1700A>T (p.Lys567Met) single nucleotide variant not specified [RCV004121220] Chr4:173039994 [GRCh38]
Chr4:173961145 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1423G>A (p.Gly475Arg) single nucleotide variant not specified [RCV004117426] Chr4:173009229 [GRCh38]
Chr4:173930380 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.962G>A (p.Arg321Gln) single nucleotide variant not specified [RCV004183798] Chr4:172882828 [GRCh38]
Chr4:173803979 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1333T>C (p.Tyr445His) single nucleotide variant not specified [RCV004080287] Chr4:172952220 [GRCh38]
Chr4:173873371 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.394C>T (p.His132Tyr) single nucleotide variant not specified [RCV004190068] Chr4:172348530 [GRCh38]
Chr4:173269681 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1450G>A (p.Val484Ile) single nucleotide variant not specified [RCV004096444] Chr4:173009256 [GRCh38]
Chr4:173930407 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1284G>T (p.Lys428Asn) single nucleotide variant not specified [RCV004166317] Chr4:172952171 [GRCh38]
Chr4:173873322 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1697A>G (p.Lys566Arg) single nucleotide variant not specified [RCV004187366] Chr4:173039991 [GRCh38]
Chr4:173961142 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1685A>G (p.Asn562Ser) single nucleotide variant not specified [RCV004099040] Chr4:173039979 [GRCh38]
Chr4:173961130 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.212A>T (p.Asp71Val) single nucleotide variant not specified [RCV004074472] Chr4:172229729 [GRCh38]
Chr4:173150880 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.844G>A (p.Ala282Thr) single nucleotide variant not specified [RCV004261003] Chr4:172813644 [GRCh38]
Chr4:173734795 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1709T>C (p.Met570Thr) single nucleotide variant not specified [RCV004263062] Chr4:173040003 [GRCh38]
Chr4:173961154 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.964A>G (p.Lys322Glu) single nucleotide variant not specified [RCV004257872] Chr4:172882830 [GRCh38]
Chr4:173803981 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1712C>A (p.Ala571Asp) single nucleotide variant not specified [RCV004263010] Chr4:173040006 [GRCh38]
Chr4:173961157 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.901G>A (p.Ala301Thr) single nucleotide variant not specified [RCV004334707] Chr4:172813701 [GRCh38]
Chr4:173734852 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1352C>T (p.Pro451Leu) single nucleotide variant not specified [RCV004341262] Chr4:172952239 [GRCh38]
Chr4:173873390 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1 copy number loss not provided [RCV003485442] Chr4:171476330..184998011 [GRCh37]
Chr4:4q33-35.1		 likely pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 copy number gain not provided [RCV003484595] Chr4:167409608..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4q34.1(chr4:173092167-173663830)x1 copy number loss not specified [RCV003986487] Chr4:173092167..173663830 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 copy number loss not specified [RCV003986532] Chr4:161589441..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q34.1(chr4:173734510-173842451)x3 copy number gain not specified [RCV003986492] Chr4:173734510..173842451 [GRCh37]
Chr4:4q34.1		 uncertain significance
GRCh37/hg19 4q34.1-34.3(chr4:172781617-182798652)x3 copy number gain not provided [RCV004442809] Chr4:172781617..182798652 [GRCh37]
Chr4:4q34.1-34.3		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 copy number loss not provided [RCV003885510] Chr4:169060637..191154276 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_001034845.3(GALNTL6):c.1342G>A (p.Val448Met) single nucleotide variant not specified [RCV004392636] Chr4:172952229 [GRCh38]
Chr4:173873380 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.647G>A (p.Arg216His) single nucleotide variant not specified [RCV004392641] Chr4:172809454 [GRCh38]
Chr4:173730605 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1582G>A (p.Val528Ile) single nucleotide variant not specified [RCV004392637] Chr4:173021569 [GRCh38]
Chr4:173942720 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.590G>A (p.Arg197Gln) single nucleotide variant not specified [RCV004392639] Chr4:172809397 [GRCh38]
Chr4:173730548 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.451G>C (p.Glu151Gln) single nucleotide variant not specified [RCV004392638] Chr4:172348587 [GRCh38]
Chr4:173269738 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.641G>A (p.Arg214Gln) single nucleotide variant not specified [RCV004392640] Chr4:172809448 [GRCh38]
Chr4:173730599 [GRCh37]
Chr4:4q34.1		 uncertain significance
NC_000004.11:g.(?_171788098)_(175916898_?)del deletion not provided [RCV004580861] Chr4:171788098..175916898 [GRCh37]
Chr4:4q33-34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.298G>A (p.Asp100Asn) single nucleotide variant not specified [RCV004634429] Chr4:172311664 [GRCh38]
Chr4:173232815 [GRCh37]
Chr4:4q34.1		 uncertain significance
NM_001034845.3(GALNTL6):c.1471A>T (p.Thr491Ser) single nucleotide variant not specified [RCV004634428] Chr4:173009277 [GRCh38]
Chr4:173930428 [GRCh37]
Chr4:4q34.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1087
Count of miRNA genes:722
Interacting mature miRNAs:833
Transcripts:ENST00000457021, ENST00000504379, ENST00000506823, ENST00000508122, ENST00000511251, ENST00000513061
Prediction methods: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
406920128GWAS569104_Hsmoking behavior QTL GWAS569104 (human)6e-12smoking behavior4172155737172155738Human
407269447GWAS918423_Hamino acid measurement QTL GWAS918423 (human)0.000007amino acid measurement4171829960171829961Human
407266180GWAS915156_Hamino acid measurement QTL GWAS915156 (human)0.000003amino acid measurement4172092485172092486Human
406902725GWAS551701_HCOVID-19, mortality QTL GWAS551701 (human)0.000002COVID-19, mortalityratio of deaths to total study population during a period of time (CMO:0001023)4172029189172029190Human
406960455GWAS609431_Hsmoking initiation QTL GWAS609431 (human)1e-14smoking initiation4172220752172220753Human
406960454GWAS609430_Hsmoking initiation QTL GWAS609430 (human)1e-23smoking initiation4172156021172156022Human
406960457GWAS609433_Hsmoking initiation QTL GWAS609433 (human)2e-17smoking initiation4172599225172599226Human
406960456GWAS609432_Hsmoking initiation QTL GWAS609432 (human)9e-17smoking initiation4172594073172594074Human
407071049GWAS720025_Hbody mass index QTL GWAS720025 (human)8e-10body mass indexbody mass index (BMI) (CMO:0000105)4172675865172675866Human
407119055GWAS768031_Hsmoking status measurement QTL GWAS768031 (human)6e-08smoking status measurement4172155737172155738Human
407207054GWAS856030_HVertigo QTL GWAS856030 (human)0.000002Vertigo4171859138171859139Human
407237390GWAS886366_HCrohn's disease QTL GWAS886366 (human)0.000004Crohn's disease4172130730172130731Human
406901324GWAS550300_HCOVID-19 QTL GWAS550300 (human)0.000008COVID-194172029189172029190Human
407047247GWAS696223_Hprotein measurement QTL GWAS696223 (human)1e-09protein measurement4172317263172317264Human
407109327GWAS758303_Hprotein measurement QTL GWAS758303 (human)7e-09protein measurement4172317263172317264Human
407020623GWAS669599_Heducational attainment QTL GWAS669599 (human)0.0000002educational attainment4171854605171854606Human
407007698GWAS656674_Htriglyceride measurement QTL GWAS656674 (human)0.0000006triglyceride measurementblood triglyceride level (CMO:0000118)4172722489172722490Human
407020626GWAS669602_Heducational attainment QTL GWAS669602 (human)8e-10educational attainment4172992880172992881Human
406960528GWAS609504_Hsmoking initiation QTL GWAS609504 (human)1e-16smoking initiation4172599872172599873Human
407020624GWAS669600_Heducational attainment QTL GWAS669600 (human)9e-15educational attainment4172154081172154082Human
407076433GWAS725409_Hsquamous cell lung carcinoma, family history of lung cancer QTL GWAS725409 (human)0.000003squamous cell lung carcinoma, family history of lung cancer4172120479172120480Human
407020625GWAS669601_Heducational attainment QTL GWAS669601 (human)9e-10educational attainment4172587029172587030Human
407186000GWAS834976_Hsmoking status measurement QTL GWAS834976 (human)2e-08smoking status measurement4172153499172153500Human
407126940GWAS775916_Hcolor vision disorder QTL GWAS775916 (human)0.000005color vision disorder4172926121172926122Human
407237663GWAS886639_Hbone density QTL GWAS886639 (human)1e-20bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)4172296985172296986Human
406987549GWAS636525_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS636525 (human)0.000002triglyceride measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4172722489172722490Human
407165408GWAS814384_Hsmoking status measurement QTL GWAS814384 (human)3e-11smoking status measurement4172153499172153500Human
406896171GWAS545147_Hsmoking initiation QTL GWAS545147 (human)1e-21smoking initiation4172112825172112826Human
406896172GWAS545148_Hsmoking initiation QTL GWAS545148 (human)7e-18smoking initiation4172287504172287505Human
407099885GWAS748861_Hbody mass index QTL GWAS748861 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)4172418685172418686Human
407190763GWAS839739_Hclinical treatment QTL GWAS839739 (human)1e-10clinical treatment4172471047172471048Human
406896175GWAS545151_Hsmoking initiation QTL GWAS545151 (human)1e-14smoking initiation4172599400172599401Human
406903920GWAS552896_HR-warfarin measurement QTL GWAS552896 (human)0.000001R-warfarin measurement4172581514172581515Human
407080563GWAS729539_Hshort-term memory QTL GWAS729539 (human)0.000003short-term memory4172964978172964979Human
406902131GWAS551107_HCOVID-19, mortality QTL GWAS551107 (human)0.000003COVID-19, mortalityratio of deaths to total study population during a period of time (CMO:0001023)4172029189172029190Human
407038326GWAS687302_Heosinophilic esophagitis QTL GWAS687302 (human)0.000003eosinophilic esophagitis4172204312172204313Human
406940596GWAS589572_Hbody mass index QTL GWAS589572 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)4172675865172675866Human
407118716GWAS767692_Hsmoking status measurement QTL GWAS767692 (human)5e-10smoking status measurement4172165341172165342Human
407148476GWAS797452_Hresponse to serotonin-norephinephrine reuptake inhibitor QTL GWAS797452 (human)0.000009response to serotonin-norephinephrine reuptake inhibitor4172732214172732215Human
407266492GWAS915468_Hbody height QTL GWAS915468 (human)6e-09body height (VT:0001253)body height (CMO:0000106)4172546371172546372Human
407034559GWAS683535_Hbody mass index QTL GWAS683535 (human)9e-12body mass indexbody mass index (BMI) (CMO:0000105)4172662935172662936Human
407070012GWAS718988_Hsquamous cell lung carcinoma, family history of lung cancer QTL GWAS718988 (human)0.000005squamous cell lung carcinoma, family history of lung cancer4172496615172496616Human
407148475GWAS797451_Hresponse to serotonin-norephinephrine reuptake inhibitor QTL GWAS797451 (human)0.000007response to serotonin-norephinephrine reuptake inhibitor4172631272172631273Human

Markers in Region
D1S1187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,894,871 - 158,895,158UniSTSGRCh37
GRCh374172,784,257 - 172,785,117UniSTSGRCh37
Celera4170,112,633 - 170,113,493UniSTS
Celera1131,965,159 - 131,965,449UniSTS
Cytogenetic Map4q34.1UniSTS
HuRef4168,534,641 - 168,535,501UniSTS
Marshfield Genetic Map1165.62UniSTS
Marshfield Genetic Map1165.62RGD
deCODE Assembly Map1153.44UniSTS
D4S621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,063,066 - 173,063,252UniSTSGRCh37
GRCh374173,063,009 - 173,063,255UniSTSGRCh37
GRCh374173,063,000 - 173,063,258UniSTSGRCh37
Build 364173,299,584 - 173,299,830RGDNCBI36
Celera4170,388,041 - 170,388,227UniSTS
Celera4170,387,985 - 170,388,230RGD
Celera4170,387,976 - 170,388,233UniSTS
Cytogenetic Map4q34.1UniSTS
HuRef4168,809,205 - 168,809,391UniSTS
HuRef4168,809,148 - 168,809,394UniSTS
HuRef4168,809,139 - 168,809,397UniSTS
Marshfield Genetic Map4175.62UniSTS
Marshfield Genetic Map4175.62RGD
Genethon Genetic Map4179.5UniSTS
TNG Radiation Hybrid Map4102157.0UniSTS
deCODE Assembly Map4167.26UniSTS
Stanford-G3 RH Map49306.0UniSTS
GeneMap99-GB4 RH Map4669.74UniSTS
Whitehead-RH Map4731.6UniSTS
Whitehead-YAC Contig Map4 UniSTS
GeneMap99-G3 RH Map49231.0UniSTS
D15S184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,491,453 - 31,491,688UniSTSGRCh37
GRCh374173,876,580 - 173,876,863UniSTSGRCh37
Build 364174,113,155 - 174,113,438RGDNCBI36
Celera159,216,971 - 9,217,207UniSTS
Celera4171,201,588 - 171,201,871RGD
Cytogenetic Map4q34.1UniSTS
HuRef158,668,746 - 8,668,995UniSTS
HuRef4169,622,710 - 169,622,993UniSTS
Marshfield Genetic Map1521.58UniSTS
Marshfield Genetic Map1521.58RGD
D4S1078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,947,901 - 173,948,071UniSTSGRCh37
Build 364174,184,476 - 174,184,646RGDNCBI36
Celera4171,272,931 - 171,273,101RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,695,295 - 169,695,465UniSTS
TNG Radiation Hybrid Map4102712.0UniSTS
SHGC4-1560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,663,745 - 173,663,904UniSTSGRCh37
Build 364173,900,320 - 173,900,479RGDNCBI36
Celera4170,988,855 - 170,989,014RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,410,012 - 169,410,171UniSTS
SHGC-12082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,201,256 - 173,201,479UniSTSGRCh37
Build 364173,437,831 - 173,438,054RGDNCBI36
Celera4170,526,252 - 170,526,475RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,947,418 - 168,947,641UniSTS
SHGC-78752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,244,718 - 173,245,025UniSTSGRCh37
Build 364173,481,293 - 173,481,600RGDNCBI36
Celera4170,569,711 - 170,570,018RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,990,901 - 168,991,208UniSTS
TNG Radiation Hybrid Map4102394.0UniSTS
SHGC-81371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,703,807 - 173,704,084UniSTSGRCh37
Build 364173,940,382 - 173,940,659RGDNCBI36
Celera4171,028,830 - 171,029,107RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,450,049 - 169,450,326UniSTS
TNG Radiation Hybrid Map4102635.0UniSTS
SHGC-81461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374172,864,473 - 172,864,821UniSTSGRCh37
Build 364173,101,048 - 173,101,396RGDNCBI36
Celera4170,193,684 - 170,194,032RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,614,740 - 168,615,088UniSTS
TNG Radiation Hybrid Map4102286.0UniSTS
RH119511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374172,913,588 - 172,913,788UniSTSGRCh37
Build 364173,150,163 - 173,150,363RGDNCBI36
Celera4170,242,838 - 170,243,038RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,664,010 - 168,664,210UniSTS
TNG Radiation Hybrid Map4102254.0UniSTS
RH122588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374172,887,152 - 172,887,460UniSTSGRCh37
Build 364173,123,727 - 173,124,035RGDNCBI36
Celera4170,216,391 - 170,216,699RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,637,559 - 168,637,867UniSTS
TNG Radiation Hybrid Map4102266.0UniSTS
G62936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,143,768 - 173,144,107UniSTSGRCh37
Build 364173,380,343 - 173,380,682RGDNCBI36
Celera4170,468,737 - 170,469,076RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,889,876 - 168,890,215UniSTS
TNG Radiation Hybrid Map4102135.0UniSTS
GDB:229343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,243,845 - 173,244,070UniSTSGRCh37
Build 364173,480,420 - 173,480,645RGDNCBI36
Celera4170,568,838 - 170,569,063RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,990,028 - 168,990,253UniSTS
SHGC-105269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,393,147 - 173,393,479UniSTSGRCh37
Build 364173,629,722 - 173,630,054RGDNCBI36
Celera4170,718,101 - 170,718,433RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,139,270 - 169,139,602UniSTS
TNG Radiation Hybrid Map4102486.0UniSTS
G33873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374172,851,974 - 172,852,170UniSTSGRCh37
Build 364173,088,549 - 173,088,745RGDNCBI36
Celera4170,181,180 - 170,181,376RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,602,236 - 168,602,432UniSTS
AFMA183XE9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,867,246 - 173,867,348UniSTSGRCh37
Build 364174,103,821 - 174,103,923RGDNCBI36
Celera4171,192,255 - 171,192,357RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,613,378 - 169,613,480UniSTS
Whitehead-YAC Contig Map4 UniSTS
D4S1001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,874,577 - 173,874,739UniSTSGRCh37
Build 364174,111,152 - 174,111,314RGDNCBI36
Celera4171,199,585 - 171,199,747RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,620,707 - 169,620,869UniSTS
TNG Radiation Hybrid Map4102689.0UniSTS
G16816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,125,791 - 173,125,964UniSTSGRCh37
Build 364173,362,366 - 173,362,539RGDNCBI36
Celera4170,450,761 - 170,450,934RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,871,915 - 168,872,088UniSTS
SHGC-50373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374172,778,260 - 172,778,413UniSTSGRCh37
Build 364173,014,835 - 173,014,988RGDNCBI36
Celera4170,106,636 - 170,106,789RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,528,644 - 168,528,797UniSTS
TNG Radiation Hybrid Map4102327.0UniSTS
A008X29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374172,776,383 - 172,776,535UniSTSGRCh37
Build 364173,012,958 - 173,013,110RGDNCBI36
Celera4170,104,762 - 170,104,914RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,526,770 - 168,526,922UniSTS
GeneMap99-GB4 RH Map4669.74UniSTS
WI-21847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374172,733,292 - 172,733,391UniSTSGRCh37
Build 364172,969,867 - 172,969,966RGDNCBI36
Celera4170,061,685 - 170,061,784RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,483,723 - 168,483,822UniSTS
GeneMap99-GB4 RH Map4669.74UniSTS
Whitehead-RH Map4729.9UniSTS
SHGC-50730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,201,256 - 173,201,532UniSTSGRCh37
Build 364173,437,831 - 173,438,107RGDNCBI36
Celera4170,526,252 - 170,526,528RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,947,418 - 168,947,694UniSTS
TNG Radiation Hybrid Map4102399.0UniSTS
D4S2328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374172,896,245 - 172,896,550UniSTSGRCh37
Build 364173,132,820 - 173,133,125RGDNCBI36
Celera4170,225,494 - 170,225,799RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,646,667 - 168,646,972UniSTS
Whitehead-RH Map4727.0UniSTS
G16727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374172,851,972 - 172,852,183UniSTSGRCh37
Build 364173,088,547 - 173,088,758RGDNCBI36
Celera4170,181,178 - 170,181,389RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,602,234 - 168,602,445UniSTS
SHGC-24215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,633,812 - 173,633,924UniSTSGRCh37
Build 364173,870,387 - 173,870,499RGDNCBI36
Celera4170,958,821 - 170,958,933RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,380,083 - 169,380,195UniSTS
D4S945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,628,285 - 173,628,479UniSTSGRCh37
Build 364173,864,860 - 173,865,054RGDNCBI36
Celera4170,953,293 - 170,953,487RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,374,553 - 169,374,747UniSTS
TNG Radiation Hybrid Map4102568.0UniSTS
SHGC-51544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,383,957 - 173,384,062UniSTSGRCh37
Build 364173,620,532 - 173,620,637RGDNCBI36
Celera4170,708,915 - 170,709,020RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,130,084 - 169,130,189UniSTS
TNG Radiation Hybrid Map4102490.0UniSTS
SHGC-36064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374172,778,304 - 172,778,403UniSTSGRCh37
Build 364173,014,879 - 173,014,978RGDNCBI36
Celera4170,106,680 - 170,106,779RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,528,688 - 168,528,787UniSTS
GeneMap99-G3 RH Map49226.0UniSTS
G33762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,125,791 - 173,125,951UniSTSGRCh37
Build 364173,362,366 - 173,362,526RGDNCBI36
Celera4170,450,761 - 170,450,921RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,871,915 - 168,872,075UniSTS
D4S612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,633,834 - 173,634,015UniSTSGRCh37
Build 364173,870,409 - 173,870,590RGDNCBI36
Celera4170,958,843 - 170,959,024RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,380,105 - 169,380,286UniSTS
TNG Radiation Hybrid Map4102568.0UniSTS
Stanford-G3 RH Map49292.0UniSTS
D4S622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,062,996 - 173,063,085UniSTSGRCh37
Build 364173,299,571 - 173,299,660RGDNCBI36
Celera4170,387,972 - 170,388,060RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,809,135 - 168,809,224UniSTS
Whitehead-RH Map4733.2UniSTS
Whitehead-YAC Contig Map4 UniSTS
G16814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,067,359 - 173,067,514UniSTSGRCh37
Build 364173,303,934 - 173,304,089RGDNCBI36
Celera4170,392,334 - 170,392,489RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,813,498 - 168,813,653UniSTS
D4S1162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,664,451 - 173,664,601UniSTSGRCh37
Build 364173,901,026 - 173,901,176RGDNCBI36
Celera4170,989,561 - 170,989,711RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,410,718 - 169,410,868UniSTS
TNG Radiation Hybrid Map4102606.0UniSTS
D4S1068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,383,938 - 173,384,165UniSTSGRCh37
Build 364173,620,513 - 173,620,740RGDNCBI36
Celera4170,708,896 - 170,709,123RGD
Cytogenetic Map4q34.1UniSTS
HuRef4169,130,065 - 169,130,292UniSTS
SHGC-60068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374173,067,375 - 173,067,574UniSTSGRCh37
Build 364173,303,950 - 173,304,149RGDNCBI36
Celera4170,392,350 - 170,392,549RGD
Cytogenetic Map4q34.1UniSTS
HuRef4168,813,514 - 168,813,713UniSTS
TNG Radiation Hybrid Map4102172.0UniSTS
D4S621  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q34.1UniSTS
Stanford-G3 RH Map49306.0UniSTS
GeneMap99-G3 RH Map49231.0UniSTS
D4S621  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q34.1UniSTS
TNG Radiation Hybrid Map4102157.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
961 2211 2599 1903 4782 1448 1973 412 1483 252 2042 5952 5345 28 3607 668 1530 1457 162

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001034845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC024706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC095045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC095063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ626725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX108658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU220060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000457021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4172,266,154 - 172,669,207 (+)Ensembl
Ensembl Acc Id: ENST00000504379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4171,813,523 - 171,816,191 (+)Ensembl
Ensembl Acc Id: ENST00000506823   ⟹   ENSP00000423313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4171,813,404 - 173,041,559 (+)Ensembl
Ensembl Acc Id: ENST00000508122   ⟹   ENSP00000423827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4172,052,445 - 173,040,100 (+)Ensembl
Ensembl Acc Id: ENST00000511251   ⟹   ENSP00000425590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4171,812,254 - 171,815,579 (+)Ensembl
Ensembl Acc Id: ENST00000513061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4171,813,523 - 171,816,353 (+)Ensembl
Ensembl Acc Id: ENST00000616459   ⟹   ENSP00000483822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4172,809,360 - 173,040,100 (+)Ensembl
RefSeq Acc Id: NM_001034845   ⟹   NP_001030017
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384171,813,404 - 173,041,559 (+)NCBI
GRCh374172,734,575 - 173,961,559 (+)RGD
GRCh374172,734,575 - 173,961,559 (+)NCBI
Build 364172,971,229 - 174,199,285 (+)NCBI Archive
Celera4170,062,968 - 171,286,585 (+)RGD
HuRef4168,485,006 - 169,708,955 (+)RGD
CHM1_14172,710,999 - 173,938,017 (+)NCBI
T2T-CHM13v2.04175,165,678 - 176,380,965 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531993   ⟹   XP_011530295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384172,155,987 - 173,041,559 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531994   ⟹   XP_011530296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384172,686,983 - 173,041,559 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531995   ⟹   XP_011530297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384172,686,983 - 173,041,559 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531996   ⟹   XP_011530298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384172,686,973 - 173,041,559 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531997   ⟹   XP_011530299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384172,697,629 - 173,041,559 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008243   ⟹   XP_016863732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384171,813,404 - 172,948,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008244   ⟹   XP_016863733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384172,051,555 - 173,041,559 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054350087   ⟹   XP_054206062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04175,503,987 - 176,380,965 (+)NCBI
RefSeq Acc Id: XM_054350088   ⟹   XP_054206063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04176,026,429 - 176,380,965 (+)NCBI
RefSeq Acc Id: XM_054350089   ⟹   XP_054206064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04176,026,429 - 176,380,965 (+)NCBI
RefSeq Acc Id: XM_054350090   ⟹   XP_054206065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04176,026,419 - 176,380,965 (+)NCBI
RefSeq Acc Id: XM_054350091   ⟹   XP_054206066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04176,037,087 - 176,380,965 (+)NCBI
RefSeq Acc Id: XM_054350092   ⟹   XP_054206067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04175,165,678 - 176,287,832 (+)NCBI
RefSeq Acc Id: XM_054350093   ⟹   XP_054206068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04175,403,848 - 176,380,965 (+)NCBI
RefSeq Acc Id: NP_001030017   ⟸   NM_001034845
- UniProtKB: Q2L4S6 (UniProtKB/Swiss-Prot),   Q49A17 (UniProtKB/Swiss-Prot),   E5D8G0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530295   ⟸   XM_011531993
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011530298   ⟸   XM_011531996
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011530296   ⟸   XM_011531994
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011530297   ⟸   XM_011531995
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011530299   ⟸   XM_011531997
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016863732   ⟸   XM_017008243
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016863733   ⟸   XM_017008244
- Peptide Label: isoform X5
- Sequence:
Ensembl Acc Id: ENSP00000423313   ⟸   ENST00000506823
Ensembl Acc Id: ENSP00000423827   ⟸   ENST00000508122
Ensembl Acc Id: ENSP00000483822   ⟸   ENST00000616459
Ensembl Acc Id: ENSP00000425590   ⟸   ENST00000511251
RefSeq Acc Id: XP_054206067   ⟸   XM_054350092
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054206068   ⟸   XM_054350093
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054206062   ⟸   XM_054350087
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054206065   ⟸   XM_054350090
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206063   ⟸   XM_054350088
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206064   ⟸   XM_054350089
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206066   ⟸   XM_054350091
- 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-Q49A17-F1-model_v2 AlphaFold Q49A17 1-601 view protein structure

Promoters
RGD ID:6868892
Promoter ID:EPDNEW_H7610
Type:initiation region
Name:GALNTL6_1
Description:polypeptide N-acetylgalactosaminyltransferase-like 6
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
GRCh384171,813,463 - 171,813,523EPDNEW
RGD ID:6802341
Promoter ID:HG_KWN:49470
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003ISV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364172,970,456 - 172,971,257 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33844 AgrOrtholog
COSMIC GALNTL6 COSMIC
Ensembl Genes ENSG00000174473 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000506823 ENTREZGENE
  ENST00000506823.6 UniProtKB/Swiss-Prot
  ENST00000508122 ENTREZGENE
  ENST00000508122.5 UniProtKB/Swiss-Prot
  ENST00000511251.1 UniProtKB/TrEMBL
Gene3D-CATH 2.80.10.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000174473 GTEx
HGNC ID HGNC:33844 ENTREZGENE
Human Proteome Map GALNTL6 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:442117 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 442117 ENTREZGENE
OMIM 615138 OMIM
PANTHER N-ACETYLGALACTOSAMINYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glycos_transf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ricin_B_lectin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164720162 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 D6RCP4_HUMAN UniProtKB/TrEMBL
  E5D8G0 ENTREZGENE, UniProtKB/TrEMBL
  GLTL6_HUMAN UniProtKB/Swiss-Prot
  I6L9C1_HUMAN UniProtKB/TrEMBL
  Q2L4S6 ENTREZGENE
  Q49A17 ENTREZGENE
UniProt Secondary Q2L4S6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-06-20 GALNTL6  polypeptide N-acetylgalactosaminyltransferase like 6    polypeptide N-acetylgalactosaminyltransferase-like 6  Symbol and/or name change 5135510 APPROVED
2014-03-19 GALNTL6  polypeptide N-acetylgalactosaminyltransferase-like 6    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6  Symbol and/or name change 5135510 APPROVED