ST6GALNAC4 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4) - Rat Genome Database

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Gene: ST6GALNAC4 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4) Homo sapiens
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Symbol: ST6GALNAC4
Name: ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
RGD ID: 1350452
HGNC Page HGNC:17846
Description: Predicted to enable alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity. Predicted to be involved in ganglioside biosynthetic process and oligosaccharide metabolic process. Predicted to be located in Golgi membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase; IV; NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2, 6-sialyltransferase alpha2,6-sialyltransferase; NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase IV; sialyltransferase 3C; sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase); SIAT3-C; SIAT3C; SIAT7-D; SIAT7D; ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4; ST6 GalNAc alpha-2,6-sialyltransferase 4; ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminidealpha-2,6-sialyltransferase 4; ST6GalNAc; ST6GalNAc IV; ST6GALNACIV
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ST6GALNAC4P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,907,886 - 127,917,041 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,907,876 - 127,917,055 (-)Ensemblhg38GRCh38
GRCh379130,670,165 - 130,679,320 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,709,986 - 129,719,126 (-)NCBIBuild 36Build 36hg18NCBI36
Build 349127,749,719 - 127,758,855NCBI
Celera9101,321,386 - 101,330,529 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9100,287,366 - 100,296,243 (-)NCBIHuRef
CHM1_19130,822,457 - 130,831,598 (-)NCBICHM1_1
T2T-CHM13v2.09140,115,658 - 140,124,816 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
Golgi membrane  (IEA,TAS)

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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8681137   PMID:10207017   PMID:10369878   PMID:11062056   PMID:12459555   PMID:12477932   PMID:12594047   PMID:14702039   PMID:15489334   PMID:15528990   PMID:16712791   PMID:17081983  
PMID:18029348   PMID:18598683   PMID:21873635   PMID:21988832   PMID:22658674   PMID:23824909   PMID:26715099   PMID:28514442   PMID:33545068   PMID:33961781   PMID:35696571   PMID:37381011  
PMID:38602029   PMID:40355756  


Genomics

Comparative Map Data
ST6GALNAC4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,907,886 - 127,917,041 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,907,876 - 127,917,055 (-)Ensemblhg38GRCh38
GRCh379130,670,165 - 130,679,320 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,709,986 - 129,719,126 (-)NCBIBuild 36Build 36hg18NCBI36
Build 349127,749,719 - 127,758,855NCBI
Celera9101,321,386 - 101,330,529 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9100,287,366 - 100,296,243 (-)NCBIHuRef
CHM1_19130,822,457 - 130,831,598 (-)NCBICHM1_1
T2T-CHM13v2.09140,115,658 - 140,124,816 (-)NCBIT2T-CHM13v2.0
St6galnac4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,477,100 - 32,489,710 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl232,477,107 - 32,489,710 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38232,587,078 - 32,599,696 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,587,095 - 32,599,698 (+)Ensemblmm10GRCm38
MGSCv37232,443,010 - 32,456,002 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36232,409,499 - 32,422,491 (+)NCBIMGSCv36mm8
Celera232,293,344 - 32,307,161 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map222.09NCBI
St6galnac4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8336,269,834 - 36,282,971 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl336,269,878 - 36,282,971 (+)EnsemblGRCr8
mRatBN7.2315,872,230 - 15,885,250 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl315,872,532 - 15,885,243 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx318,941,178 - 18,953,898 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0327,526,185 - 27,538,908 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0325,776,927 - 25,789,990 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0311,607,103 - 11,619,595 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl311,607,225 - 11,619,593 (+)Ensemblrn6Rnor6.0
Rnor_5.0316,954,075 - 16,966,295 (+)NCBIRnor_5.0Rnor_5.0rn5
Celera310,612,107 - 10,625,126 (+)NCBICelera
Cytogenetic Map3p11NCBI
St6galnac4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955419756,747 - 764,897 (+)Ensembl
ChiLan1.0NW_004955419756,768 - 764,897 (+)NCBIChiLan1.0ChiLan1.0
ST6GALNAC4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21111,436,583 - 11,445,760 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1911,438,931 - 11,448,108 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0999,027,846 - 99,037,025 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19127,699,013 - 127,708,515 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9127,699,013 - 127,708,515 (-)EnsemblpanPan2panpan1.1
ST6GALNAC4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1955,499,100 - 55,513,562 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl955,504,639 - 55,513,174 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha954,698,143 - 54,707,667 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0956,426,103 - 56,435,630 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl956,426,138 - 56,435,625 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1955,186,079 - 55,195,597 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0955,500,793 - 55,510,325 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0955,592,052 - 55,601,569 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
St6galnac4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947195,773,467 - 195,782,736 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648715,541,735 - 15,551,305 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493648715,541,994 - 15,551,245 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ST6GALNAC4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1268,391,855 - 268,402,407 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11268,391,851 - 268,402,449 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21302,314,296 - 302,324,794 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ST6GALNAC4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11210,205,665 - 10,215,180 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1210,205,705 - 10,214,688 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660796,003,560 - 6,013,077 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
St6galnac4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247607,652,881 - 7,662,382 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247607,652,907 - 7,660,858 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
St6galnac4
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v153,043,653 - 3,056,138 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in ST6GALNAC4
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 copy number loss See cases [RCV000052934] Chr9:127874581..130421811 [GRCh38]
Chr9:130636860..133297198 [GRCh37]
Chr9:129676681..132287019 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 copy number loss See cases [RCV000447376] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
NM_175039.4(ST6GALNAC4):c.577G>A (p.Asp193Asn) single nucleotide variant not specified [RCV004299694] Chr9:127912302 [GRCh38]
Chr9:130674581 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.497A>G (p.Tyr166Cys) single nucleotide variant not specified [RCV004307052] Chr9:127912382 [GRCh38]
Chr9:130674661 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 copy number loss not provided [RCV000748677] Chr9:129522693..131410039 [GRCh37]
Chr9:9q33.3-34.11		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_175039.4(ST6GALNAC4):c.39C>T (p.Cys13=) single nucleotide variant not provided [RCV000959854] Chr9:127914815 [GRCh38]
Chr9:130677094 [GRCh37]
Chr9:9q34.11		 benign
NC_000009.12:g.(?_127612384)_(128566997_?)del deletion Developmental and epileptic encephalopathy [RCV000819894]|Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV001387712] Chr9:127612384..128566997 [GRCh38]
Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV000821291] Chr9:127454518..128190872 [GRCh38]
Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_175039.4(ST6GALNAC4):c.468C>T (p.His156=) single nucleotide variant not provided [RCV000926744] Chr9:127912411 [GRCh38]
Chr9:130674690 [GRCh37]
Chr9:9q34.11		 benign
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Developmental and epileptic encephalopathy, 4 [RCV001263247] Chr9:128512347..130702572 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NC_000009.12:g.(?_127815672)_(128541180_?)del deletion not provided [RCV001032461] Chr9:130577951..131303459 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130374663)_(131329276_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001304269] Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1 copy number loss Infantile epilepsy syndrome [RCV001265154] Chr9:130412438..131423964 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130577951)_(130700109_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001383142] Chr9:130577951..130700109 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_129376729)_(131016993_?)del deletion Developmental and epileptic encephalopathy [RCV001383155]|Developmental and epileptic encephalopathy, 31A [RCV001364955] Chr9:129376729..131016993 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital disorder of glycosylation type 1u [RCV001323033] Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795) copy number loss not specified [RCV002052846] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275) copy number loss not specified [RCV002052848] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130216807)_(130953136_?)del deletion Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001972646] Chr9:130216807..130953136 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NC_000009.11:g.(?_130216807)_(130700099_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001920331] Chr9:130216807..130700099 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_175039.4(ST6GALNAC4):c.298G>A (p.Val100Met) single nucleotide variant not specified [RCV004102811] Chr9:127912581 [GRCh38]
Chr9:130674860 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.211G>A (p.Glu71Lys) single nucleotide variant not specified [RCV004242654] Chr9:127912668 [GRCh38]
Chr9:130674947 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.187C>T (p.Pro63Ser) single nucleotide variant not specified [RCV004141629] Chr9:127914667 [GRCh38]
Chr9:130676946 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.854G>A (p.Arg285His) single nucleotide variant not specified [RCV004124742] Chr9:127908447 [GRCh38]
Chr9:130670726 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.389C>T (p.Pro130Leu) single nucleotide variant not specified [RCV004091792] Chr9:127912490 [GRCh38]
Chr9:130674769 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.824G>A (p.Arg275His) single nucleotide variant not specified [RCV004227002] Chr9:127908477 [GRCh38]
Chr9:130670756 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.122A>G (p.His41Arg) single nucleotide variant not specified [RCV004122765] Chr9:127914732 [GRCh38]
Chr9:130677011 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.668A>G (p.Glu223Gly) single nucleotide variant not specified [RCV004173027] Chr9:127910002 [GRCh38]
Chr9:130672281 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.500G>A (p.Arg167His) single nucleotide variant not specified [RCV004092336] Chr9:127912379 [GRCh38]
Chr9:130674658 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.652A>G (p.Met218Val) single nucleotide variant not specified [RCV004168785] Chr9:127910018 [GRCh38]
Chr9:130672297 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.43G>C (p.Val15Leu) single nucleotide variant not specified [RCV004075413] Chr9:127914811 [GRCh38]
Chr9:130677090 [GRCh37]
Chr9:9q34.11		 likely benign
NM_175039.4(ST6GALNAC4):c.385G>C (p.Val129Leu) single nucleotide variant not specified [RCV004271050] Chr9:127912494 [GRCh38]
Chr9:130674773 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.22G>A (p.Val8Met) single nucleotide variant not specified [RCV004357456] Chr9:127914832 [GRCh38]
Chr9:130677111 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.25C>T (p.Leu9Phe) single nucleotide variant not specified [RCV004348885] Chr9:127914829 [GRCh38]
Chr9:130677108 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.241A>G (p.Ser81Gly) single nucleotide variant not specified [RCV004463091] Chr9:127912638 [GRCh38]
Chr9:130674917 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.334G>A (p.Glu112Lys) single nucleotide variant not specified [RCV004463092] Chr9:127912545 [GRCh38]
Chr9:130674824 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.338C>G (p.Ala113Gly) single nucleotide variant not specified [RCV004463093] Chr9:127912541 [GRCh38]
Chr9:130674820 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.400C>T (p.Arg134Cys) single nucleotide variant not specified [RCV004463094] Chr9:127912479 [GRCh38]
Chr9:130674758 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.465G>T (p.Arg155Ser) single nucleotide variant not specified [RCV004463095] Chr9:127912414 [GRCh38]
Chr9:130674693 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.620C>T (p.Ser207Leu) single nucleotide variant not specified [RCV004463096] Chr9:127910050 [GRCh38]
Chr9:130672329 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130216807)_(133557056_?)dup duplication Dystonic disorder [RCV004581825] Chr9:130216807..133557056 [GRCh37]
Chr9:9q33.3-34.12		 uncertain significance
NC_000009.11:g.(?_130374683)_(131329276_?)del deletion Developmental and epileptic encephalopathy [RCV004581888]|Developmental and epileptic encephalopathy, 31A [RCV004581887] Chr9:130374683..131329276 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_175039.4(ST6GALNAC4):c.476G>A (p.Arg159Gln) single nucleotide variant not specified [RCV004675586] Chr9:127912403 [GRCh38]
Chr9:130674682 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.115G>A (p.Asp39Asn) single nucleotide variant not specified [RCV004679563] Chr9:127914739 [GRCh38]
Chr9:130677018 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.352C>T (p.Arg118Cys) single nucleotide variant not specified [RCV004679564] Chr9:127912527 [GRCh38]
Chr9:130674806 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.899G>A (p.Arg300Lys) single nucleotide variant not specified [RCV004675587] Chr9:127908402 [GRCh38]
Chr9:130670681 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.517A>G (p.Thr173Ala) single nucleotide variant not specified [RCV004675588] Chr9:127912362 [GRCh38]
Chr9:130674641 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.143C>T (p.Pro48Leu) single nucleotide variant not specified [RCV004675589] Chr9:127914711 [GRCh38]
Chr9:130676990 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.317C>G (p.Ala106Gly) single nucleotide variant not specified [RCV004857616] Chr9:127912562 [GRCh38]
Chr9:130674841 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.121C>T (p.His41Tyr) single nucleotide variant not specified [RCV004865793] Chr9:127914733 [GRCh38]
Chr9:130677012 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.499C>T (p.Arg167Cys) single nucleotide variant not specified [RCV004865792] Chr9:127912380 [GRCh38]
Chr9:130674659 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.610C>T (p.Arg204Trp) single nucleotide variant not specified [RCV005271073] Chr9:127912269 [GRCh38]
Chr9:130674548 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_175039.4(ST6GALNAC4):c.485G>A (p.Gly162Asp) single nucleotide variant not specified [RCV005277553] Chr9:127912394 [GRCh38]
Chr9:130674673 [GRCh37]
Chr9:9q34.11		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2461
Count of miRNA genes:745
Interacting mature miRNAs:893
Transcripts:ENST00000335791, ENST00000343609, ENST00000361444, ENST00000467674, ENST00000474282, ENST00000479747, ENST00000483438, ENST00000495983
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
597155175GWAS1251249_Hdiet measurement, bilirubin measurement QTL GWAS1251249 (human)0.000006diet measurement, bilirubin measurement9127914351127914352Human
628590375GWAS2498604_Hdiet measurement, bilirubin measurement QTL GWAS2498604 (human)0.000006blood bilirubin amount (VT:0001569)serum total bilirubin level (CMO:0000376)9127914351127914352Human
628598343GWAS2506572_Hdiet measurement, bilirubin measurement QTL GWAS2506572 (human)0.000002blood bilirubin amount (VT:0001569)serum total bilirubin level (CMO:0000376)9127914351127914352Human
407114678GWAS763654_Hbody height QTL GWAS763654 (human)4e-08body height9127909942127909943Human
628753811GWAS2662040_Holigodendroglioma QTL GWAS2662040 (human)0.000006oligodendroglioma9127915890127915891Human
596965086GWAS1084605_Hdiet measurement, bilirubin measurement QTL GWAS1084605 (human)0.000002diet measurement, bilirubin measurement9127914351127914352Human
597151900GWAS1247974_Hdiet measurement, bilirubin measurement QTL GWAS1247974 (human)0.000002diet measurement, bilirubin measurement9127914351127914352Human
597038602GWAS1134676_Hbody height QTL GWAS1134676 (human)4e-08body height9127909942127909943Human
598001865GWAS1721164_Hbody height QTL GWAS1721164 (human)4e-08body height9127909942127909943Human
598109739GWAS1818622_Holigodendroglioma QTL GWAS1818622 (human)0.000006oligodendroglioma9127915890127915891Human
596965258GWAS1084777_Hdiet measurement, bilirubin measurement QTL GWAS1084777 (human)0.000006diet measurement, bilirubin measurement9127914351127914352Human

Markers in Region
RH12804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,674,711 - 130,674,880UniSTSGRCh37
Build 369129,714,532 - 129,714,701RGDNCBI36
Celera9101,325,933 - 101,326,102RGD
Cytogenetic Map9q34UniSTS
HuRef9100,291,646 - 100,291,815UniSTS
GeneMap99-GB4 RH Map9387.43UniSTS
RH45227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,670,218 - 130,670,440UniSTSGRCh37
Build 369129,710,039 - 129,710,261RGDNCBI36
Celera9101,321,439 - 101,321,661RGD
Cytogenetic Map9q34UniSTS
HuRef9100,287,419 - 100,287,641UniSTS
GeneMap99-GB4 RH Map9387.84UniSTS
WI-18218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,670,167 - 130,670,315UniSTSGRCh37
Build 369129,709,988 - 129,710,136RGDNCBI36
Celera9101,321,388 - 101,321,536RGD
Cytogenetic Map9q34UniSTS
HuRef9100,287,368 - 100,287,516UniSTS
GeneMap99-GB4 RH Map9389.89UniSTS
Whitehead-RH Map9466.1UniSTS
RH41851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,670,191 - 130,670,310UniSTSGRCh37
Build 369129,710,012 - 129,710,131RGDNCBI36
Celera9101,321,412 - 101,321,531RGD
Cytogenetic Map9q34UniSTS
HuRef9100,287,392 - 100,287,511UniSTS
GeneMap99-GB4 RH Map9389.89UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4970 1726 2350 6 624 1951 465 2266 7306 6472 53 3734 1 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_175039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB035172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF162789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB126299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F27902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB715170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000335791   ⟹   ENSP00000336733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,907,886 - 127,917,041 (-)Ensembl
Ensembl Acc Id: ENST00000361444   ⟹   ENSP00000355130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,908,447 - 127,916,996 (-)Ensembl
Ensembl Acc Id: ENST00000467674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,908,344 - 127,917,018 (-)Ensembl
Ensembl Acc Id: ENST00000474282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,908,325 - 127,912,394 (-)Ensembl
Ensembl Acc Id: ENST00000479747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,915,976 - 127,917,038 (-)Ensembl
Ensembl Acc Id: ENST00000483438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,912,387 - 127,914,866 (-)Ensembl
Ensembl Acc Id: ENST00000495983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,908,318 - 127,914,762 (-)Ensembl
Ensembl Acc Id: ENST00000893008   ⟹   ENSP00000563067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,907,886 - 127,917,055 (-)Ensembl
Ensembl Acc Id: ENST00000893009   ⟹   ENSP00000563068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,907,886 - 127,917,041 (-)Ensembl
Ensembl Acc Id: ENST00000893010   ⟹   ENSP00000563069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,907,886 - 127,917,041 (-)Ensembl
Ensembl Acc Id: ENST00000893011   ⟹   ENSP00000563070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,907,886 - 127,917,030 (-)Ensembl
Ensembl Acc Id: ENST00000893012   ⟹   ENSP00000563071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,907,886 - 127,917,001 (-)Ensembl
Ensembl Acc Id: ENST00000893013   ⟹   ENSP00000563072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,907,886 - 127,916,801 (-)Ensembl
Ensembl Acc Id: ENST00000932013   ⟹   ENSP00000602072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,907,890 - 127,917,003 (-)Ensembl
Ensembl Acc Id: ENST00000959375   ⟹   ENSP00000629434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,907,876 - 127,917,030 (-)Ensembl
RefSeq Acc Id: NM_175039   ⟹   NP_778204
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,907,886 - 127,917,041 (-)NCBI
GRCh379130,670,165 - 130,679,326 (-)NCBI
Build 369129,709,986 - 129,719,126 (-)NCBI Archive
Celera9101,321,386 - 101,330,529 (-)RGD
HuRef9100,287,366 - 100,296,243 (-)RGD
CHM1_19130,822,457 - 130,831,598 (-)NCBI
T2T-CHM13v2.09140,115,658 - 140,124,816 (-)NCBI
Sequence:
RefSeq Acc Id: NM_175040   ⟹   NP_778205
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,907,886 - 127,917,041 (-)NCBI
GRCh379130,670,165 - 130,679,326 (-)NCBI
Build 369129,709,986 - 129,719,126 (-)NCBI Archive
Celera9101,321,386 - 101,330,529 (-)RGD
HuRef9100,287,366 - 100,296,243 (-)RGD
CHM1_19130,822,457 - 130,831,598 (-)NCBI
T2T-CHM13v2.09140,115,658 - 140,124,816 (-)NCBI
Sequence:
RefSeq Acc Id: NP_778205   ⟸   NM_175040
- Peptide Label: isoform b
- UniProtKB: A8K7N4 (UniProtKB/TrEMBL),   A6NJX0 (UniProtKB/TrEMBL),   B7ZBP4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_778204   ⟸   NM_175039
- Peptide Label: isoform a
- UniProtKB: Q9Y3G3 (UniProtKB/Swiss-Prot),   Q9ULB9 (UniProtKB/Swiss-Prot),   Q9UKU1 (UniProtKB/Swiss-Prot),   Q9NWU6 (UniProtKB/Swiss-Prot),   Q5T9D0 (UniProtKB/Swiss-Prot),   Q9Y3G4 (UniProtKB/Swiss-Prot),   Q9H4F1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000336733   ⟸   ENST00000335791
Ensembl Acc Id: ENSP00000355130   ⟸   ENST00000361444
Ensembl Acc Id: ENSP00000602072   ⟸   ENST00000932013
Ensembl Acc Id: ENSP00000563067   ⟸   ENST00000893008
Ensembl Acc Id: ENSP00000563072   ⟸   ENST00000893013
Ensembl Acc Id: ENSP00000563068   ⟸   ENST00000893009
Ensembl Acc Id: ENSP00000563071   ⟸   ENST00000893012
Ensembl Acc Id: ENSP00000563070   ⟸   ENST00000893011
Ensembl Acc Id: ENSP00000563069   ⟸   ENST00000893010
Ensembl Acc Id: ENSP00000629434   ⟸   ENST00000959375

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H4F1-F1-model_v2 AlphaFold Q9H4F1 1-302 view protein structure

Promoters
RGD ID:7216227
Promoter ID:EPDNEW_H13860
Type:initiation region
Name:SIAT7D_1
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
GRCh389127,916,932 - 127,916,992EPDNEW
RGD ID:7216231
Promoter ID:EPDNEW_H13861
Type:initiation region
Name:ST6GALNAC4_1
Description:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
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
GRCh389127,917,041 - 127,917,101EPDNEW
RGD ID:6808271
Promoter ID:HG_KWN:65073
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000054322
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,714,426 - 129,714,927 (-)MPROMDB
RGD ID:6808269
Promoter ID:HG_KWN:65074
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000054321,   OTTHUMT00000054323
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,716,876 - 129,717,442 (-)MPROMDB
RGD ID:6808267
Promoter ID:HG_KWN:65075
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_175039,   NM_175040,   OTTHUMT00000054318,   OTTHUMT00000054319
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,718,976 - 129,719,972 (-)MPROMDB
RGD ID:6853100
Promoter ID:EP74352
Type:multiple initiation site
Name:HS_SIAT7D
Description:Sialyltransferase 7D galactosaminide alpha-2,6-sialyltransferase)l-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,719,032 - 129,719,092EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17846 AgrOrtholog
COSMIC ST6GALNAC4 COSMIC
Ensembl Genes ENSG00000136840 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000335791 ENTREZGENE
  ENST00000335791.10 UniProtKB/Swiss-Prot
  ENST00000361444 ENTREZGENE
Gene3D-CATH 3.90.1480.20 UniProtKB/Swiss-Prot
GTEx ENSG00000136840 GTEx
HGNC ID HGNC:17846 ENTREZGENE
Human Proteome Map ST6GALNAC4 Human Proteome Map
InterPro Glyco_trans_29 UniProtKB/Swiss-Prot
  GT29-like_sf UniProtKB/Swiss-Prot
KEGG Report hsa:27090 UniProtKB/Swiss-Prot
NCBI Gene 27090 ENTREZGENE
OMIM 606378 OMIM
PANTHER ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYL-GALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE UniProtKB/Swiss-Prot
  PTHR45906 UniProtKB/Swiss-Prot
Pfam Glyco_transf_29 UniProtKB/Swiss-Prot
PharmGKB PA38250 PharmGKB
UniProt A6NJX0 ENTREZGENE, UniProtKB/TrEMBL
  A8K7N4 ENTREZGENE, UniProtKB/TrEMBL
  B7ZBP4 ENTREZGENE
  Q5T9D0 ENTREZGENE
  Q9H4F1 ENTREZGENE
  Q9NWU6 ENTREZGENE
  Q9UKU1 ENTREZGENE
  Q9ULB9 ENTREZGENE
  Q9Y3G3 ENTREZGENE
  Q9Y3G4 ENTREZGENE
  SIA7D_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5T9D0 UniProtKB/Swiss-Prot
  Q9NWU6 UniProtKB/Swiss-Prot
  Q9UKU1 UniProtKB/Swiss-Prot
  Q9ULB9 UniProtKB/Swiss-Prot
  Q9Y3G3 UniProtKB/Swiss-Prot
  Q9Y3G4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 ST6GALNAC4  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4  ST6GALNAC4  ST6 GalNAc alpha-2,6-sialyltransferase 4  Symbol and/or name change 5135510 APPROVED
2016-04-26 ST6GALNAC4  ST6 GalNAc alpha-2,6-sialyltransferase 4  ST6GALNAC4  ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4  Symbol and/or name change 5135510 APPROVED