VPS28 (VPS28 subunit of ESCRT-I) - Rat Genome Database

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Gene: VPS28 (VPS28 subunit of ESCRT-I) Homo sapiens
Analyze
Symbol: VPS28
Name: VPS28 subunit of ESCRT-I
RGD ID: 1315210
HGNC Page HGNC:18178
Description: Enables ubiquitin binding activity. Involved in positive regulation of ubiquitin-dependent endocytosis; regulation of protein metabolic process; and ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Located in cytosol; endosome; and plasma membrane. Part of ESCRT I complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CIIA; ESCRT-I complex subunit VPS28; H-Vps28; MGC60323; vacuolar protein sorting 28 (yeast); vacuolar protein sorting 28 homolog; vacuolar protein sorting-associated protein 28 homolog; VPS28, ESCRT-I subunit; yeast class E protein Vps28p homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,423,617 - 144,428,548 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,423,601 - 144,428,563 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,649,000 - 145,653,931 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,619,808 - 145,624,735 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,619,807 - 145,624,735NCBI
Celera8141,823,433 - 141,828,362 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,762,216 - 140,767,180 (-)NCBIHuRef
CHM1_18145,687,291 - 145,692,187 (-)NCBICHM1_1
T2T-CHM13v2.08145,593,428 - 145,598,361 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA)
cytosol  (IDA)
early endosome  (IDA)
endosome  (IDA,IEA)
endosome membrane  (IDA,NAS,TAS)
ESCRT I complex  (IBA,IDA,IEA,IPI,ISS,TAS)
extracellular exosome  (HDA)
late endosome membrane  (IEA)
membrane  (IEA)
plasma membrane  (IDA,IEA)

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11031247   PMID:11134028   PMID:11916981   PMID:12477932   PMID:12588984   PMID:12663786   PMID:12857913   PMID:12892785   PMID:14505570   PMID:14519844   PMID:14702039   PMID:15218037  
PMID:15240819   PMID:15342556   PMID:15489334   PMID:15509564   PMID:16004603   PMID:16169070   PMID:16189514   PMID:16778200   PMID:16940516   PMID:17215868   PMID:17853893   PMID:17940959  
PMID:17982468   PMID:18005716   PMID:18077552   PMID:18539118   PMID:19056867   PMID:19060904   PMID:19199708   PMID:19524996   PMID:19738201   PMID:20360068   PMID:20458337   PMID:20588296  
PMID:20654576   PMID:20708039   PMID:21516116   PMID:21543492   PMID:21596998   PMID:21757351   PMID:21762798   PMID:21873635   PMID:22004035   PMID:22232651   PMID:22405001   PMID:23027949  
PMID:23305486   PMID:23376485   PMID:23533145   PMID:23895345   PMID:24284069   PMID:24522193   PMID:25098452   PMID:25170077   PMID:25201988   PMID:25416956   PMID:25959826   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26673895   PMID:26871637   PMID:27609421   PMID:28190767   PMID:28514442   PMID:28986522   PMID:29053956   PMID:29548937   PMID:30471916   PMID:31091453  
PMID:31203368   PMID:31515488   PMID:31519728   PMID:32296183   PMID:32424346   PMID:32597834   PMID:32687490   PMID:32814053   PMID:33087821   PMID:33277362   PMID:33961781   PMID:34373451  
PMID:34449766   PMID:34761192   PMID:34999730   PMID:35013218   PMID:35156780   PMID:35271311   PMID:35831314   PMID:36114006   PMID:36688959  


Genomics

Comparative Map Data
VPS28
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,423,617 - 144,428,548 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,423,601 - 144,428,563 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,649,000 - 145,653,931 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,619,808 - 145,624,735 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,619,807 - 145,624,735NCBI
Celera8141,823,433 - 141,828,362 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,762,216 - 140,767,180 (-)NCBIHuRef
CHM1_18145,687,291 - 145,692,187 (-)NCBICHM1_1
T2T-CHM13v2.08145,593,428 - 145,598,361 (-)NCBIT2T-CHM13v2.0
Vps28
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,506,286 - 76,510,284 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,506,287 - 76,510,286 (-)EnsemblGRCm39 Ensembl
GRCm381576,622,086 - 76,626,084 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,622,087 - 76,626,086 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,452,518 - 76,456,457 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,449,343 - 76,453,282 (-)NCBIMGSCv36mm8
Celera1578,115,695 - 78,119,634 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.17NCBI
Vps28
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87110,222,638 - 110,226,486 (-)NCBIGRCr8
mRatBN7.27108,341,989 - 108,345,837 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,341,989 - 108,345,837 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7110,083,851 - 110,087,699 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,307,425 - 112,311,273 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07112,268,254 - 112,272,102 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,684,339 - 117,688,187 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,684,339 - 117,688,187 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,672,422 - 117,676,270 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,670,491 - 114,674,339 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17114,704,722 - 114,708,565 (-)NCBI
Celera7104,692,151 - 104,695,999 (-)NCBICelera
Cytogenetic Map7q34NCBI
Vps28
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,048,042 - 3,054,361 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,049,977 - 3,054,078 (-)NCBIChiLan1.0ChiLan1.0
VPS28
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27161,914,393 - 161,919,947 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18137,443,401 - 137,449,013 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08141,189,967 - 141,195,482 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18144,180,081 - 144,185,173 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,180,081 - 144,185,175 (-)Ensemblpanpan1.1panPan2
VPS28
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,841,524 - 37,845,954 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,841,518 - 37,846,339 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,802,903 - 37,806,996 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,315,868 - 38,319,961 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,314,749 - 38,319,956 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11338,007,669 - 38,011,758 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,116,303 - 38,120,391 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,592,696 - 38,596,782 (-)NCBIUU_Cfam_GSD_1.0
Vps28
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303403,032 - 407,134 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364707,830,114 - 7,833,047 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364707,829,207 - 7,833,213 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VPS28
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4362,912 - 370,588 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14362,902 - 368,038 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24453,488 - 458,638 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VPS28
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,636,092 - 138,641,011 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660391,215,277 - 1,220,217 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vps28
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473512,426,543 - 12,430,698 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473512,426,687 - 12,430,698 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VPS28
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3 copy number gain See cases [RCV000052189] Chr8:144392063..144458958 [GRCh38]
Chr8:145617263..145684341 [GRCh37]
Chr8:145588071..145655149 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3		 benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3		 likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_016208.4(VPS28):c.549-51G>A single nucleotide variant Inborn genetic diseases [RCV003254874] Chr8:144423973 [GRCh38]
Chr8:145649356 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145634413-145753161)x3 copy number gain not provided [RCV000748021] Chr8:145634413..145753161 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145634556-145772939)x3 copy number gain not provided [RCV000748022] Chr8:145634556..145772939 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145772939)x3 copy number gain not provided [RCV000748027] Chr8:145638753..145772939 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145763152)x3 copy number gain not provided [RCV000748026] Chr8:145638753..145763152 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145661547)x3 copy number gain not provided [RCV000748023] Chr8:145638753..145661547 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145755918)x3 copy number gain not provided [RCV000748024] Chr8:145638753..145755918 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145758635)x3 copy number gain not provided [RCV000748025] Chr8:145638753..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3		 benign
NM_016208.4(VPS28):c.425A>G (p.Lys142Arg) single nucleotide variant Inborn genetic diseases [RCV003266323] Chr8:144424246 [GRCh38]
Chr8:145649629 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145603133-145695493)x3 copy number gain not provided [RCV000846119] Chr8:145603133..145695493 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1 copy number loss not provided [RCV000846781] Chr8:145645435..145881333 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3		 pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3		 uncertain significance|no classifications from unflagged records
NC_000008.10:g.(?_144295143)_(145701139_?)del deletion Brown-Vialetto-van Laere syndrome 2 [RCV001939634]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001962911] Chr8:144295143..145701139 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_016208.4(VPS28):c.53C>T (p.Pro18Leu) single nucleotide variant Inborn genetic diseases [RCV003259203] Chr8:144426193 [GRCh38]
Chr8:145651576 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_016208.4(VPS28):c.47A>G (p.Asn16Ser) single nucleotide variant Inborn genetic diseases [RCV002841302] Chr8:144426199 [GRCh38]
Chr8:145651582 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_016208.4(VPS28):c.450G>T (p.Met150Ile) single nucleotide variant Inborn genetic diseases [RCV002781651] Chr8:144424221 [GRCh38]
Chr8:145649604 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_016208.4(VPS28):c.92G>A (p.Arg31Gln) single nucleotide variant Inborn genetic diseases [RCV003192816] Chr8:144426038 [GRCh38]
Chr8:145651421 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3 copy number gain not provided [RCV003484758] Chr8:145080420..146258478 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9653
Count of miRNA genes:1076
Interacting mature miRNAs:1401
Transcripts:ENST00000292510, ENST00000377348, ENST00000524521, ENST00000526054, ENST00000526204, ENST00000526734, ENST00000526977, ENST00000527797, ENST00000528142, ENST00000529182, ENST00000530790, ENST00000530836, ENST00000530983, ENST00000531032, ENST00000531924, ENST00000533806
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH16000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,649,092 - 145,649,231UniSTSGRCh37
Build 368145,619,900 - 145,620,039RGDNCBI36
Celera8141,823,525 - 141,823,664RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,762,324 - 140,762,463UniSTS
A006J21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,649,004 - 145,649,104UniSTSGRCh37
Build 368145,619,812 - 145,619,912RGDNCBI36
Celera8141,823,437 - 141,823,537RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,762,236 - 140,762,336UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS
MARC_23623-23624:1027527533:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,650,357 - 145,651,108UniSTSGRCh37
Build 368145,621,165 - 145,621,916RGDNCBI36
Celera8141,824,790 - 141,825,541RGD
HuRef8140,763,589 - 140,764,340UniSTS
D10S16   No map positions available.
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 4
Medium 2439 2973 1725 623 1950 464 4357 2179 3724 419 1456 1613 175 1 1204 2788 6 2
Low 18 1 1 1 1 18 10
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC233992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF182844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF316887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF445417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP380505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU658837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N31929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R72904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000292510   ⟹   ENSP00000292510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,617 - 144,428,548 (-)Ensembl
RefSeq Acc Id: ENST00000377348   ⟹   ENSP00000366565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,601 - 144,428,563 (-)Ensembl
RefSeq Acc Id: ENST00000524521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,426,471 - 144,428,543 (-)Ensembl
RefSeq Acc Id: ENST00000526054   ⟹   ENSP00000434064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,617 - 144,426,983 (-)Ensembl
RefSeq Acc Id: ENST00000526204   ⟹   ENSP00000433228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,620 - 144,426,983 (-)Ensembl
RefSeq Acc Id: ENST00000526734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,425,396 - 144,428,543 (-)Ensembl
RefSeq Acc Id: ENST00000526977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,617 - 144,426,983 (-)Ensembl
RefSeq Acc Id: ENST00000527797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,672 - 144,426,998 (-)Ensembl
RefSeq Acc Id: ENST00000528142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,622 - 144,426,983 (-)Ensembl
RefSeq Acc Id: ENST00000529182   ⟹   ENSP00000434556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,617 - 144,426,983 (-)Ensembl
RefSeq Acc Id: ENST00000530790   ⟹   ENSP00000432395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,425,718 - 144,428,544 (-)Ensembl
RefSeq Acc Id: ENST00000530836   ⟹   ENSP00000436102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,631 - 144,426,983 (-)Ensembl
RefSeq Acc Id: ENST00000530983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,621 - 144,426,983 (-)Ensembl
RefSeq Acc Id: ENST00000531032   ⟹   ENSP00000434393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,424,105 - 144,428,543 (-)Ensembl
RefSeq Acc Id: ENST00000531924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,424,965 - 144,427,294 (-)Ensembl
RefSeq Acc Id: ENST00000533806   ⟹   ENSP00000431243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,423,864 - 144,428,548 (-)Ensembl
RefSeq Acc Id: NM_016208   ⟹   NP_057292
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,423,617 - 144,428,548 (-)NCBI
GRCh378145,648,984 - 145,653,946 (-)NCBI
Build 368145,619,808 - 145,624,735 (-)NCBI Archive
HuRef8140,762,216 - 140,767,180 (-)NCBI
CHM1_18145,687,291 - 145,692,187 (-)NCBI
T2T-CHM13v2.08145,593,428 - 145,598,361 (-)NCBI
Sequence:
RefSeq Acc Id: NM_183057   ⟹   NP_898880
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,423,617 - 144,428,548 (-)NCBI
GRCh378145,648,984 - 145,653,946 (-)NCBI
Build 368145,619,808 - 145,624,735 (-)NCBI Archive
HuRef8140,762,216 - 140,767,180 (-)NCBI
CHM1_18145,687,291 - 145,692,187 (-)NCBI
T2T-CHM13v2.08145,593,428 - 145,598,361 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272324   ⟹   XP_005272381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,423,617 - 144,428,548 (-)NCBI
GRCh378145,648,984 - 145,653,946 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421845   ⟹   XP_047277801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,423,617 - 144,426,988 (-)NCBI
RefSeq Acc Id: XM_047421846   ⟹   XP_047277802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,423,617 - 144,426,017 (-)NCBI
RefSeq Acc Id: XM_054360613   ⟹   XP_054216588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,593,428 - 145,598,361 (-)NCBI
RefSeq Acc Id: XM_054360614   ⟹   XP_054216589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,593,428 - 145,596,014 (-)NCBI
Protein Sequences
Protein RefSeqs NP_057292 (Get FASTA)   NCBI Sequence Viewer  
  NP_898880 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272381 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277801 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188176 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216588 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216589 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF00499 (Get FASTA)   NCBI Sequence Viewer  
  AAH06485 (Get FASTA)   NCBI Sequence Viewer  
  AAH19321 (Get FASTA)   NCBI Sequence Viewer  
  AAH50713 (Get FASTA)   NCBI Sequence Viewer  
  AAK00314 (Get FASTA)   NCBI Sequence Viewer  
  AAQ04641 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34093 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34094 (Get FASTA)   NCBI Sequence Viewer  
  EAW82094 (Get FASTA)   NCBI Sequence Viewer  
  EAW82095 (Get FASTA)   NCBI Sequence Viewer  
  EAW82096 (Get FASTA)   NCBI Sequence Viewer  
  EAW82097 (Get FASTA)   NCBI Sequence Viewer  
  EAW82098 (Get FASTA)   NCBI Sequence Viewer  
  EAW82099 (Get FASTA)   NCBI Sequence Viewer  
  EAW82100 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000292510
  ENSP00000292510.3
  ENSP00000366565
  ENSP00000366565.2
  ENSP00000431243
  ENSP00000431243.1
  ENSP00000432395.1
  ENSP00000433228.1
  ENSP00000434064.1
  ENSP00000434393.1
  ENSP00000434556.1
  ENSP00000436102.1
  ENSP00000494521.1
  ENSP00000495408.1
  ENSP00000496519.1
  ENSP00000496693.1
GenBank Protein Q9UK41 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_057292   ⟸   NM_016208
- Peptide Label: isoform 1
- UniProtKB: Q86VK0 (UniProtKB/Swiss-Prot),   Q9UK41 (UniProtKB/Swiss-Prot),   Q548N1 (UniProtKB/TrEMBL),   E9PM90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_898880   ⟸   NM_183057
- Peptide Label: isoform 2
- UniProtKB: Q9UK41 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272381   ⟸   XM_005272324
- Peptide Label: isoform X1
- UniProtKB: A0A0S2Z5H5 (UniProtKB/TrEMBL),   E9PM90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000292510   ⟸   ENST00000292510
RefSeq Acc Id: ENSP00000432395   ⟸   ENST00000530790
RefSeq Acc Id: ENSP00000436102   ⟸   ENST00000530836
RefSeq Acc Id: ENSP00000434393   ⟸   ENST00000531032
RefSeq Acc Id: ENSP00000431243   ⟸   ENST00000533806
RefSeq Acc Id: ENSP00000366565   ⟸   ENST00000377348
RefSeq Acc Id: ENSP00000433228   ⟸   ENST00000526204
RefSeq Acc Id: ENSP00000434064   ⟸   ENST00000526054
RefSeq Acc Id: ENSP00000434556   ⟸   ENST00000529182
RefSeq Acc Id: XP_047277801   ⟸   XM_047421845
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047277802   ⟸   XM_047421846
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216588   ⟸   XM_054360613
- Peptide Label: isoform X1
- UniProtKB: A0A0S2Z5H5 (UniProtKB/TrEMBL),   E9PM90 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216589   ⟸   XM_054360614
- Peptide Label: isoform X2
Protein Domains
VPS28 C-terminal   VPS28 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UK41-F1-model_v2 AlphaFold Q9UK41 1-221 view protein structure

Promoters
RGD ID:7214473
Promoter ID:EPDNEW_H12982
Type:initiation region
Name:VPS28_2
Description:VPS28, ESCRT-I subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12984  EPDNEW_H12983  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,426,998 - 144,427,058EPDNEW
RGD ID:7214479
Promoter ID:EPDNEW_H12983
Type:initiation region
Name:VPS28_1
Description:VPS28, ESCRT-I subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12982  EPDNEW_H12984  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,428,513 - 144,428,573EPDNEW
RGD ID:7214475
Promoter ID:EPDNEW_H12984
Type:initiation region
Name:VPS28_3
Description:VPS28, ESCRT-I subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12982  EPDNEW_H12983  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,429,512 - 144,429,572EPDNEW
RGD ID:6813550
Promoter ID:HG_ACW:79430
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:VPS28.HAPR07,   VPS28.PAPR07,   VPS28.VGAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,621,521 - 145,622,021 (-)MPROMDB
RGD ID:6807158
Promoter ID:HG_KWN:62342
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:UC003ZCR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,623,704 - 145,624,204 (-)MPROMDB
RGD ID:6807156
Promoter ID:HG_KWN:62343
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_016208,   NM_183057
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,624,501 - 145,625,672 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18178 AgrOrtholog
COSMIC VPS28 COSMIC
Ensembl Genes ENSG00000160948 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285339 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000292510 ENTREZGENE
  ENST00000292510.6 UniProtKB/Swiss-Prot
  ENST00000377348 ENTREZGENE
  ENST00000377348.6 UniProtKB/Swiss-Prot
  ENST00000526054.5 UniProtKB/Swiss-Prot
  ENST00000526204.5 UniProtKB/TrEMBL
  ENST00000529182.5 UniProtKB/Swiss-Prot
  ENST00000530790.5 UniProtKB/TrEMBL
  ENST00000530836.5 UniProtKB/TrEMBL
  ENST00000531032.5 UniProtKB/TrEMBL
  ENST00000533806 ENTREZGENE
  ENST00000533806.5 UniProtKB/TrEMBL
  ENST00000642202.1 UniProtKB/Swiss-Prot
  ENST00000642867.1 UniProtKB/Swiss-Prot
  ENST00000643186.2 UniProtKB/Swiss-Prot
  ENST00000646588.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.1130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.1440.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160948 GTEx
  ENSG00000285339 GTEx
HGNC ID HGNC:18178 ENTREZGENE
Human Proteome Map VPS28 Human Proteome Map
InterPro ESCRT_assembly_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vps28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS28_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS28_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS28_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS28_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51160 ENTREZGENE
OMIM 611952 OMIM
PANTHER PTHR12937 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VACUOLAR PROTEIN SORTING-ASSOCIATED PROTEIN 28 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam VPS28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38512 PharmGKB
PIRSF VPS28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE VPS28_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS28_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF140111 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF140427 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z5H5 ENTREZGENE, UniProtKB/TrEMBL
  E9PLM9_HUMAN UniProtKB/TrEMBL
  E9PM90 ENTREZGENE, UniProtKB/TrEMBL
  E9PQR7_HUMAN UniProtKB/TrEMBL
  E9PR04_HUMAN UniProtKB/TrEMBL
  Q548N1 ENTREZGENE, UniProtKB/TrEMBL
  Q86VK0 ENTREZGENE
  Q9UK41 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q86VK0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-05 VPS28  VPS28 subunit of ESCRT-I  VPS28  VPS28, ESCRT-I subunit  Symbol and/or name change 5135510 APPROVED
2016-03-07 VPS28  VPS28, ESCRT-I subunit  VPS28  vacuolar protein sorting 28 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED