SNF8 (SNF8 subunit of ESCRT-II) - Rat Genome Database

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Gene: SNF8 (SNF8 subunit of ESCRT-II) Homo sapiens
Analyze
Symbol: SNF8
Name: SNF8 subunit of ESCRT-II
RGD ID: 1604833
HGNC Page HGNC:17028
Description: Enables channel regulator activity; lipid binding activity; and protein homodimerization activity. Involved in several processes, including endosomal transport; positive regulation of exosomal secretion; and positive regulation of macromolecule metabolic process. Acts upstream of or within regulation of transcription by RNA polymerase II. Located in several cellular components, including endosome; nucleoplasm; and perinuclear region of cytoplasm. Part of ESCRT II complex and transcription regulator complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE115; Dot3; EAP30; EAP30 subunit of ELL complex; ELL-associated protein of 30 kDa; ESCRT-II complex subunit VPS22; hVps22; NEDOA; SNF8, ESCRT-II complex subunit; SNF8, ESCRT-II complex subunit, homolog; vacuolar-sorting protein SNF8; VPS22
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SNF8P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381748,929,316 - 48,944,842 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1748,929,316 - 48,944,842 (-)EnsemblGRCh38hg38GRCh38
GRCh371747,006,678 - 47,022,204 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361744,362,457 - 44,377,153 (-)NCBINCBI36Build 36hg18NCBI36
Celera1743,461,656 - 43,476,351 (-)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1742,375,136 - 42,389,830 (-)NCBIHuRef
CHM1_11747,073,206 - 47,087,896 (-)NCBICHM1_1
T2T-CHM13v2.01749,793,036 - 49,808,559 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

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

Human Phenotype
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
3. How do ESCRT proteins control autophagy? Rusten TE and Stenmark H, J Cell Sci. 2009 Jul 1;122(Pt 13):2179-83.
Additional References at PubMed
PMID:10419521   PMID:10737800   PMID:11031247   PMID:11278625   PMID:12477932   PMID:14505570   PMID:14519844   PMID:14702039   PMID:15218037   PMID:15329733   PMID:15342556   PMID:15489334  
PMID:15755741   PMID:16189514   PMID:16260042   PMID:16371348   PMID:16857164   PMID:16973552   PMID:17010938   PMID:17207965   PMID:17714434   PMID:17959629   PMID:18031739   PMID:18539118  
PMID:19056867   PMID:19819239   PMID:20588296   PMID:21118109   PMID:21378990   PMID:21516116   PMID:21873635   PMID:21988832   PMID:22660413   PMID:22863883   PMID:22939629   PMID:22978549  
PMID:23171048   PMID:23305486   PMID:23376485   PMID:23455924   PMID:23667179   PMID:25232011   PMID:25416956   PMID:26268989   PMID:26344197   PMID:26496610   PMID:27107014   PMID:28514442  
PMID:28986522   PMID:29084253   PMID:29892012   PMID:31515488   PMID:32296183   PMID:32814053   PMID:33961781   PMID:34373451   PMID:35271311   PMID:35320721   PMID:35831314   PMID:36217029  
PMID:37827155   PMID:38423010  


Genomics

Comparative Map Data
SNF8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381748,929,316 - 48,944,842 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1748,929,316 - 48,944,842 (-)EnsemblGRCh38hg38GRCh38
GRCh371747,006,678 - 47,022,204 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361744,362,457 - 44,377,153 (-)NCBINCBI36Build 36hg18NCBI36
Celera1743,461,656 - 43,476,351 (-)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1742,375,136 - 42,389,830 (-)NCBIHuRef
CHM1_11747,073,206 - 47,087,896 (-)NCBICHM1_1
T2T-CHM13v2.01749,793,036 - 49,808,559 (-)NCBIT2T-CHM13v2.0
Snf8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391195,925,711 - 95,938,256 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1195,925,711 - 95,938,256 (+)EnsemblGRCm39 Ensembl
GRCm381196,034,885 - 96,047,430 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1196,034,885 - 96,047,430 (+)EnsemblGRCm38mm10GRCm38
MGSCv371195,896,231 - 95,908,719 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361195,851,007 - 95,863,495 (+)NCBIMGSCv36mm8
Celera11105,685,354 - 105,697,707 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1159.24NCBI
Snf8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81081,481,054 - 81,493,430 (+)NCBIGRCr8
mRatBN7.21080,984,337 - 80,996,724 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1080,984,363 - 80,996,734 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1085,932,673 - 85,944,874 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01085,430,709 - 85,442,910 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01080,823,176 - 80,835,608 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01083,856,331 - 83,868,621 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1083,856,280 - 83,868,598 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01083,661,434 - 83,673,490 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41084,749,033 - 84,761,230 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11084,763,402 - 84,775,600 (+)NCBI
Celera1079,752,499 - 79,764,696 (+)NCBICelera
Cytogenetic Map10q26NCBI
Snf8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545112,396,625 - 12,406,014 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545112,396,625 - 12,406,014 (+)NCBIChiLan1.0ChiLan1.0
SNF8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21916,158,715 - 16,172,794 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11718,124,309 - 18,138,395 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0178,595,647 - 8,609,730 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1178,577,948 - 8,794,859 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl178,578,050 - 8,794,480 (+)Ensemblpanpan1.1panPan2
SNF8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1925,151,992 - 25,162,105 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl925,152,011 - 25,162,023 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha924,613,162 - 24,623,187 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0925,947,254 - 25,957,310 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl925,947,273 - 25,957,217 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1924,715,090 - 24,725,126 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0924,973,356 - 24,983,364 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0925,102,284 - 25,112,314 (-)NCBIUU_Cfam_GSD_1.0
Snf8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560224,554,980 - 24,567,996 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649012,507,116 - 12,523,674 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649012,507,147 - 12,520,424 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNF8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1225,142,813 - 25,153,016 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11225,142,748 - 25,152,847 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21225,108,502 - 25,118,624 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SNF8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11669,343,260 - 69,357,843 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1669,339,804 - 69,357,860 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607740,445,605 - 40,459,909 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Snf8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247955,318,802 - 5,328,768 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247955,318,803 - 5,328,542 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SNF8
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|See cases [RCV000052480] Chr17:44955325..49381173 [GRCh38]
Chr17:43032693..47458535 [GRCh37]
Chr17:40388219..44813534 [NCBI36]
Chr17:17q21.31-21.33		 pathogenic
GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1 copy number loss See cases [RCV000053431] Chr17:48520885..49511208 [GRCh38]
Chr17:46598247..47588570 [GRCh37]
Chr17:43953246..44943569 [NCBI36]
Chr17:17q21.32-21.33		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1 copy number loss See cases [RCV000142900] Chr17:47986886..49329397 [GRCh38]
Chr17:46064252..47406759 [GRCh37]
Chr17:43419251..44761758 [NCBI36]
Chr17:17q21.32-21.33		 pathogenic
GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3 copy number gain See cases [RCV000143451] Chr17:48450628..49552921 [GRCh38]
Chr17:46527990..47630283 [GRCh37]
Chr17:43882989..44985282 [NCBI36]
Chr17:17q21.32-21.33		 uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_007241.4(SNF8):c.694G>A (p.Ala232Thr) single nucleotide variant not specified [RCV004283865] Chr17:48930558 [GRCh38]
Chr17:47007920 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 copy number loss not provided [RCV000513510] Chr17:46481089..51396368 [GRCh37]
Chr17:17q21.32-22		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_007241.4(SNF8):c.629G>A (p.Arg210Gln) single nucleotide variant Aganglionic megacolon [RCV000984695] Chr17:48931653 [GRCh38]
Chr17:47009015 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh37/hg19 17q21.32-21.33(chr17:46899690-47540874)x3 copy number gain not provided [RCV000849505] Chr17:46899690..47540874 [GRCh37]
Chr17:17q21.32-21.33		 uncertain significance
GRCh37/hg19 17q21.32(chr17:46874271-47158974)x3 copy number gain not provided [RCV000848908] Chr17:46874271..47158974 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3 copy number gain not provided [RCV002472415] Chr17:46753824..47577721 [GRCh37]
Chr17:17q21.32-21.33		 uncertain significance
NM_007241.4(SNF8):c.699C>G (p.His233Gln) single nucleotide variant not specified [RCV004084677] Chr17:48930553 [GRCh38]
Chr17:47007915 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_007241.4(SNF8):c.755A>C (p.Glu252Ala) single nucleotide variant not specified [RCV004201889] Chr17:48930497 [GRCh38]
Chr17:47007859 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_007241.4(SNF8):c.50C>T (p.Ala17Val) single nucleotide variant not specified [RCV004125399] Chr17:48944685 [GRCh38]
Chr17:47022047 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_007241.4(SNF8):c.406G>A (p.Ala136Thr) single nucleotide variant not specified [RCV004190296] Chr17:48936186 [GRCh38]
Chr17:47013548 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_007241.4(SNF8):c.686C>T (p.Pro229Leu) single nucleotide variant not specified [RCV004323273] Chr17:48930566 [GRCh38]
Chr17:47007928 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_007241.4(SNF8):c.572G>A (p.Gly191Asp) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 [RCV003994557]|SNF8-associated disease [RCV003447438] Chr17:48931710 [GRCh38]
Chr17:47009072 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_007241.4(SNF8):c.236C>T (p.Pro79Leu) single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 [RCV003993691]|NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY [RCV003994558]|SNF8-associated disease [RCV003447439] Chr17:48940932 [GRCh38]
Chr17:47018294 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_007241.4(SNF8):c.623G>T (p.Arg208Leu) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 [RCV003993692]|SNF8-associated disease [RCV003447440] Chr17:48931659 [GRCh38]
Chr17:47009021 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_007241.4(SNF8):c.423-1G>C single nucleotide variant NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY [RCV003994559]|SNF8-associated disease [RCV003447441] Chr17:48933347 [GRCh38]
Chr17:47010709 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_007241.4(SNF8):c.304G>A (p.Val102Ile) single nucleotide variant NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY [RCV003994560]|SNF8-associated disease [RCV003447443]|not specified [RCV004364705] Chr17:48937065 [GRCh38]
Chr17:47014427 [GRCh37]
Chr17:17q21.32		 pathogenic|uncertain significance
NM_007241.4(SNF8):c.501C>A (p.Tyr167Ter) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 [RCV003994556]|SNF8-associated disease [RCV003447437] Chr17:48933268 [GRCh38]
Chr17:47010630 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs) indel NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY [RCV004011323]|SNF8-associated disease [RCV003447442] Chr17:48930569..48930579 [GRCh38]
Chr17:47007931..47007941 [GRCh37]
Chr17:17q21.32		 pathogenic
Single allele deletion Tricho-dento-osseous syndrome [RCV003494599] Chr17:46740736..48853218 [GRCh37]
Chr17:17q21.32-21.33		 pathogenic
NM_007241.4(SNF8):c.193C>T (p.Arg65Cys) single nucleotide variant not specified [RCV004462368] Chr17:48940975 [GRCh38]
Chr17:47018337 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_007241.4(SNF8):c.277G>A (p.Val93Met) single nucleotide variant not specified [RCV004462369] Chr17:48937092 [GRCh38]
Chr17:47014454 [GRCh37]
Chr17:17q21.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3673
Count of miRNA genes:982
Interacting mature miRNAs:1174
Transcripts:ENST00000290330, ENST00000502492, ENST00000504000, ENST00000506104, ENST00000507302, ENST00000509989, ENST00000509995, ENST00000510195, ENST00000510558, ENST00000511214, ENST00000512243, ENST00000514089, ENST00000514929, ENST00000515174, ENST00000515572, ENST00000573795, ENST00000576353
Prediction methods:Microtar, Miranda, Pita, 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
D17S1827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371747,009,525 - 47,010,390UniSTSGRCh37
GRCh371746,638,484 - 46,638,615UniSTSGRCh37
Build 361743,993,483 - 43,993,614RGDNCBI36
Celera1743,092,626 - 43,092,771RGD
Celera1743,463,723 - 43,464,588UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map17q21.3UniSTS
HuRef1742,007,290 - 42,007,423UniSTS
HuRef1742,377,203 - 42,378,068UniSTS
Marshfield Genetic Map1766.85UniSTS
Marshfield Genetic Map1766.85RGD
Genethon Genetic Map1767.6UniSTS
deCODE Assembly Map1774.32UniSTS
EAP30_9250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371747,007,362 - 47,007,900UniSTSGRCh37
Build 361744,362,361 - 44,362,899RGDNCBI36
Celera1743,461,560 - 43,462,098RGD
HuRef1742,375,040 - 42,375,578UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2427 2546 1578 483 1669 324 4308 2012 3345 396 1457 1612 175 1 1204 2739 5 2
Low 12 445 148 141 282 141 49 185 389 23 3 1 49 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_133679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC091133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF156102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE394098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE818533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG248541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP342490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000290330   ⟹   ENSP00000290330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,930,374 - 48,944,810 (-)Ensembl
RefSeq Acc Id: ENST00000502492   ⟹   ENSP00000421380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,929,316 - 48,944,842 (-)Ensembl
RefSeq Acc Id: ENST00000504000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,930,390 - 48,933,318 (-)Ensembl
RefSeq Acc Id: ENST00000506104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,936,041 - 48,937,107 (-)Ensembl
RefSeq Acc Id: ENST00000507302   ⟹   ENSP00000422701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,931,643 - 48,944,747 (-)Ensembl
RefSeq Acc Id: ENST00000509989   ⟹   ENSP00000467548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,930,426 - 48,937,054 (-)Ensembl
RefSeq Acc Id: ENST00000509995   ⟹   ENSP00000421956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,930,371 - 48,944,733 (-)Ensembl
RefSeq Acc Id: ENST00000510195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,936,996 - 48,944,806 (-)Ensembl
RefSeq Acc Id: ENST00000510558   ⟹   ENSP00000421390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,930,371 - 48,944,806 (-)Ensembl
RefSeq Acc Id: ENST00000511214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,936,034 - 48,937,239 (-)Ensembl
RefSeq Acc Id: ENST00000512243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,935,703 - 48,944,708 (-)Ensembl
RefSeq Acc Id: ENST00000514089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,930,381 - 48,937,118 (-)Ensembl
RefSeq Acc Id: ENST00000514929   ⟹   ENSP00000427328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,931,643 - 48,944,831 (-)Ensembl
RefSeq Acc Id: ENST00000515174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,936,656 - 48,944,139 (-)Ensembl
RefSeq Acc Id: ENST00000515572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,930,388 - 48,933,591 (-)Ensembl
RefSeq Acc Id: ENST00000573795   ⟹   ENSP00000460981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,930,429 - 48,944,811 (-)Ensembl
RefSeq Acc Id: ENST00000576353   ⟹   ENSP00000460001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,930,504 - 48,944,825 (-)Ensembl
RefSeq Acc Id: NM_001317192   ⟹   NP_001304121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,929,316 - 48,944,842 (-)NCBI
CHM1_11747,073,206 - 47,087,946 (-)NCBI
T2T-CHM13v2.01749,793,036 - 49,808,559 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317193   ⟹   NP_001304122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,929,316 - 48,944,842 (-)NCBI
CHM1_11747,073,206 - 47,087,946 (-)NCBI
T2T-CHM13v2.01749,793,036 - 49,808,559 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317194   ⟹   NP_001304123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,929,316 - 48,944,842 (-)NCBI
CHM1_11747,073,206 - 47,087,946 (-)NCBI
T2T-CHM13v2.01749,793,036 - 49,808,559 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007241   ⟹   NP_009172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,929,316 - 48,944,842 (-)NCBI
GRCh371747,007,458 - 47,022,484 (-)NCBI
Build 361744,362,457 - 44,377,153 (-)NCBI Archive
Celera1743,461,656 - 43,476,351 (-)RGD
HuRef1742,375,136 - 42,389,830 (-)RGD
CHM1_11747,073,206 - 47,087,946 (-)NCBI
T2T-CHM13v2.01749,793,036 - 49,808,559 (-)NCBI
Sequence:
RefSeq Acc Id: NR_133679
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,929,316 - 48,944,842 (-)NCBI
CHM1_11747,073,206 - 47,087,946 (-)NCBI
T2T-CHM13v2.01749,793,036 - 49,808,559 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_009172   ⟸   NM_007241
- Peptide Label: isoform 1
- UniProtKB: Q8IXY3 (UniProtKB/Swiss-Prot),   Q9UN50 (UniProtKB/Swiss-Prot),   Q96H20 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304122   ⟸   NM_001317193
- Peptide Label: isoform 3
- UniProtKB: Q96H20 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304121   ⟸   NM_001317192
- Peptide Label: isoform 2
- UniProtKB: Q96H20 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304123   ⟸   NM_001317194
- Peptide Label: isoform 4
- UniProtKB: Q96H20 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000421380   ⟸   ENST00000502492
RefSeq Acc Id: ENSP00000422701   ⟸   ENST00000507302
RefSeq Acc Id: ENSP00000460981   ⟸   ENST00000573795
RefSeq Acc Id: ENSP00000467548   ⟸   ENST00000509989
RefSeq Acc Id: ENSP00000421956   ⟸   ENST00000509995
RefSeq Acc Id: ENSP00000460001   ⟸   ENST00000576353
RefSeq Acc Id: ENSP00000421390   ⟸   ENST00000510558
RefSeq Acc Id: ENSP00000427328   ⟸   ENST00000514929
RefSeq Acc Id: ENSP00000290330   ⟸   ENST00000290330

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96H20-F1-model_v2 AlphaFold Q96H20 1-258 view protein structure

Promoters
RGD ID:6794554
Promoter ID:HG_KWN:26518
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_007241,   UC002IOK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361744,376,926 - 44,377,426 (-)MPROMDB
RGD ID:7235549
Promoter ID:EPDNEW_H23520
Type:initiation region
Name:SNF8_1
Description:SNF8, ESCRT-II complex subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23521  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,944,818 - 48,944,878EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17028 AgrOrtholog
COSMIC SNF8 COSMIC
Ensembl Genes ENSG00000159210 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000290330 ENTREZGENE
  ENST00000290330.7 UniProtKB/Swiss-Prot
  ENST00000502492 ENTREZGENE
  ENST00000502492.6 UniProtKB/Swiss-Prot
  ENST00000507302.6 UniProtKB/TrEMBL
  ENST00000509989.5 UniProtKB/TrEMBL
  ENST00000509995.5 UniProtKB/TrEMBL
  ENST00000510558.6 UniProtKB/TrEMBL
  ENST00000514929.1 UniProtKB/TrEMBL
  ENST00000573795.5 UniProtKB/TrEMBL
  ENST00000576353.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000159210 GTEx
HGNC ID HGNC:17028 ENTREZGENE
Human Proteome Map SNF8 Human Proteome Map
InterPro ESCRT-2_cplx_Snf8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Snf8/Vps36 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11267 UniProtKB/Swiss-Prot
NCBI Gene 11267 ENTREZGENE
OMIM 610904 OMIM
PANTHER PTHR12806 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VACUOLAR-SORTING PROTEIN SNF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EAP30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670892 PharmGKB
PIRSF ESCRT2_Vps22 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6RBI1_HUMAN UniProtKB/TrEMBL
  D6RFY6_HUMAN UniProtKB/TrEMBL
  D6RJ86_HUMAN UniProtKB/TrEMBL
  H0Y8S5_HUMAN UniProtKB/TrEMBL
  I3L2X5_HUMAN UniProtKB/TrEMBL
  I3L457_HUMAN UniProtKB/TrEMBL
  K7EPV2_HUMAN UniProtKB/TrEMBL
  Q8IXY3 ENTREZGENE
  Q96H20 ENTREZGENE
  Q9UN50 ENTREZGENE
  SNF8_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8IXY3 UniProtKB/Swiss-Prot
  Q9UN50 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-05 SNF8  SNF8 subunit of ESCRT-II  SNF8  SNF8, ESCRT-II complex subunit  Symbol and/or name change 5135510 APPROVED
2013-06-11 SNF8  SNF8, ESCRT-II complex subunit  SNF8  SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED