EVPLL (envoplakin like) - Rat Genome Database

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Gene: EVPLL (envoplakin like) Homo sapiens
Analyze
Symbol: EVPLL
Name: envoplakin like
RGD ID: 2303435
HGNC Page HGNC:35236
Description: Predicted to enable cadherin binding activity and structural molecule activity. Predicted to be involved in intermediate filament cytoskeleton organization and wound healing. Predicted to be located in cytoplasm; intermediate filament; and membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: envoplakin-like; envoplakin-like protein
RGD Orthologs
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381718,377,778 - 18,389,647 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1718,377,778 - 18,389,647 (+)EnsemblGRCh38hg38GRCh38
GRCh371718,281,092 - 18,292,961 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,221,804 - 18,233,691 (+)NCBINCBI36Build 36hg18NCBI36
Celera1719,232,559 - 19,238,172 (+)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1718,044,165 - 18,055,990 (+)NCBIHuRef
CHM1_11718,290,055 - 18,301,942 (+)NCBICHM1_1
T2T-CHM13v2.01718,324,591 - 18,336,469 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:21873635   PMID:29844126   PMID:35256949  


Genomics

Comparative Map Data
EVPLL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381718,377,778 - 18,389,647 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1718,377,778 - 18,389,647 (+)EnsemblGRCh38hg38GRCh38
GRCh371718,281,092 - 18,292,961 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,221,804 - 18,233,691 (+)NCBINCBI36Build 36hg18NCBI36
Celera1719,232,559 - 19,238,172 (+)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1718,044,165 - 18,055,990 (+)NCBIHuRef
CHM1_11718,290,055 - 18,301,942 (+)NCBICHM1_1
T2T-CHM13v2.01718,324,591 - 18,336,469 (+)NCBIT2T-CHM13v2.0
EVPLL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11617,544,400 - 17,546,398 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660593,347,682 - 3,349,545 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in EVPLL
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3 copy number gain See cases [RCV000050888] Chr17:16879232..18970941 [GRCh38]
Chr17:16782546..18874254 [GRCh37]
Chr17:16723271..18814979 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 copy number loss See cases [RCV000050513] Chr17:15776915..18771753 [GRCh38]
Chr17:15680229..18675066 [GRCh37]
Chr17:15620954..18615791 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 copy number loss See cases [RCV000050602] Chr17:15898032..20620700 [GRCh38]
Chr17:15801346..20524013 [GRCh37]
Chr17:15742071..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 copy number gain See cases [RCV000050622] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 copy number loss See cases [RCV000050624] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 copy number gain See cases [RCV000051852] Chr17:15259164..20925299 [GRCh38]
Chr17:15162481..20828612 [GRCh37]
Chr17:15103206..20769204 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 copy number gain See cases [RCV000051853] Chr17:15897832..20620841 [GRCh38]
Chr17:15801146..20524154 [GRCh37]
Chr17:15741871..20464746 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 copy number gain See cases [RCV000051876] Chr17:16836827..20340442 [GRCh38]
Chr17:16740141..20243755 [GRCh37]
Chr17:16680866..20184347 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 copy number gain See cases [RCV000051877] Chr17:16836827..20504849 [GRCh38]
Chr17:16740141..20408162 [GRCh37]
Chr17:16680866..20348754 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 copy number gain See cases [RCV000051855] Chr17:16656168..20390725 [GRCh38]
Chr17:16559482..20294038 [GRCh37]
Chr17:16500207..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 copy number gain See cases [RCV000051879] Chr17:16919369..20289856 [GRCh38]
Chr17:16822683..20193169 [GRCh37]
Chr17:16763408..20133761 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 copy number gain See cases [RCV000051858] Chr17:16692462..20390725 [GRCh38]
Chr17:16595776..20294038 [GRCh37]
Chr17:16536501..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 copy number gain See cases [RCV000051860] Chr17:16713514..20582527 [GRCh38]
Chr17:16616828..20485840 [GRCh37]
Chr17:16557553..20426432 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 copy number gain See cases [RCV000051871] Chr17:16713515..20340442 [GRCh38]
Chr17:16616829..20243755 [GRCh37]
Chr17:16557554..20184347 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 copy number gain See cases [RCV000051849] Chr17:15234685..20620700 [GRCh38]
Chr17:15138002..20524013 [GRCh37]
Chr17:15078727..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 copy number gain See cases [RCV000051872] Chr17:16760817..20429770 [GRCh38]
Chr17:16664131..20333083 [GRCh37]
Chr17:16604856..20273675 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 copy number gain See cases [RCV000051873] Chr17:16760818..20504849 [GRCh38]
Chr17:16664132..20408162 [GRCh37]
Chr17:16604857..20348754 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 copy number loss See cases [RCV000054330] Chr17:16060129..20620841 [GRCh38]
Chr17:15963443..20524154 [GRCh37]
Chr17:15904168..20464746 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 copy number loss See cases [RCV000054337] Chr17:16760818..20390725 [GRCh38]
Chr17:16664132..20294038 [GRCh37]
Chr17:16604857..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 copy number loss See cases [RCV000054355] Chr17:16836827..20465067 [GRCh38]
Chr17:16740141..20368380 [GRCh37]
Chr17:16680866..20308972 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 copy number loss See cases [RCV000054356] Chr17:16858444..20340442 [GRCh38]
Chr17:16761758..20243755 [GRCh37]
Chr17:16702483..20184347 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 copy number loss See cases [RCV000054357] Chr17:16858444..20465067 [GRCh38]
Chr17:16761758..20368380 [GRCh37]
Chr17:16702483..20308972 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1 copy number loss See cases [RCV000054359] Chr17:17150076..18415759 [GRCh38]
Chr17:17053390..18319073 [GRCh37]
Chr17:16994115..18259798 [NCBI36]
Chr17:17p11.2		 pathogenic
NM_001145127.1(EVPLL):c.-36-629G>A single nucleotide variant Lung cancer [RCV000100376] Chr17:18380273 [GRCh38]
Chr17:18283587 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 copy number gain See cases [RCV000133695] Chr17:16879232..20316151 [GRCh38]
Chr17:16782546..20219464 [GRCh37]
Chr17:16723271..20160056 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 copy number gain See cases [RCV000134467] Chr17:16854250..20492169 [GRCh38]
Chr17:16757564..20395482 [GRCh37]
Chr17:16698289..20336074 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 copy number loss See cases [RCV000135874] Chr17:17331511..20022528 [GRCh38]
Chr17:17234825..19925841 [GRCh37]
Chr17:17175550..19866433 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 copy number loss See cases [RCV000135996] Chr17:16879233..20390697 [GRCh38]
Chr17:16782547..20294010 [GRCh37]
Chr17:16723272..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 copy number gain See cases [RCV000135997] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 copy number loss See cases [RCV000135998] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 copy number loss See cases [RCV000136906] Chr17:16734588..20390725 [GRCh38]
Chr17:16637902..20294038 [GRCh37]
Chr17:16578627..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 copy number loss See cases [RCV000136951] Chr17:16734588..20316151 [GRCh38]
Chr17:16637902..20219464 [GRCh37]
Chr17:16578627..20160056 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 copy number loss See cases [RCV000137974] Chr17:16699816..20390725 [GRCh38]
Chr17:16603130..20294038 [GRCh37]
Chr17:16543855..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic|likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 copy number gain See cases [RCV000138255] Chr17:16854250..20492214 [GRCh38]
Chr17:16757564..20395527 [GRCh37]
Chr17:16698289..20336119 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-19017784)x3 copy number gain See cases [RCV000138572] Chr17:17331511..19017784 [GRCh38]
Chr17:17234825..18921097 [GRCh37]
Chr17:17175550..18861822 [NCBI36]
Chr17:17p11.2		 uncertain significance
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 copy number loss See cases [RCV000139239] Chr17:16989087..20370816 [GRCh38]
Chr17:16892401..20274129 [GRCh37]
Chr17:16833126..20214721 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3 copy number gain See cases [RCV000139243] Chr17:17748602..18551638 [GRCh38]
Chr17:17651916..18454952 [GRCh37]
Chr17:17592641..18395677 [NCBI36]
Chr17:17p11.2		 likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 copy number gain See cases [RCV000139188] Chr17:16854250..20560048 [GRCh38]
Chr17:16757564..20463361 [GRCh37]
Chr17:16698289..20403953 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 copy number gain See cases [RCV000140217] Chr17:16699694..20530646 [GRCh38]
Chr17:16603008..20433959 [GRCh37]
Chr17:16543733..20374551 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 copy number loss See cases [RCV000139510] Chr17:15883037..20620700 [GRCh38]
Chr17:15786351..20524013 [GRCh37]
Chr17:15727076..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 copy number loss See cases [RCV000139558] Chr17:16656162..20390697 [GRCh38]
Chr17:16559476..20294010 [GRCh37]
Chr17:16500201..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 copy number loss See cases [RCV000141105] Chr17:17018951..20148630 [GRCh38]
Chr17:16922265..20051943 [GRCh37]
Chr17:16862990..19992535 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 copy number gain See cases [RCV000140852] Chr17:16699816..20492214 [GRCh38]
Chr17:16603130..20395527 [GRCh37]
Chr17:16543855..20336119 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 copy number loss See cases [RCV000141975] Chr17:16838097..20436415 [GRCh38]
Chr17:16741411..20339728 [GRCh37]
Chr17:16682136..20280320 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1 copy number loss See cases [RCV000141729] Chr17:17067833..19019419 [GRCh38]
Chr17:16971147..18922732 [GRCh37]
Chr17:16911872..18863457 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3 copy number gain See cases [RCV000142462] Chr17:18077127..18521388 [GRCh38]
Chr17:17980441..18424702 [GRCh37]
Chr17:17921166..18365427 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 copy number gain See cases [RCV000142075] Chr17:16858500..20570955 [GRCh38]
Chr17:16761814..20474268 [GRCh37]
Chr17:16702539..20414860 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 copy number gain See cases [RCV000142169] Chr17:15552362..19014200 [GRCh38]
Chr17:15455676..18917513 [GRCh37]
Chr17:15396401..18858238 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1 copy number loss See cases [RCV000142986] Chr17:16734588..18834703 [GRCh38]
Chr17:16637902..18738016 [GRCh37]
Chr17:16578627..18678741 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 copy number gain See cases [RCV000143381] Chr17:16696708..20492860 [GRCh38]
Chr17:16600022..20396173 [GRCh37]
Chr17:16540747..20336765 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 copy number gain See cases [RCV000143417] Chr17:16718415..20546210 [GRCh38]
Chr17:16621729..20449523 [GRCh37]
Chr17:16562454..20390115 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 copy number loss See cases [RCV000143181] Chr17:16699816..20428292 [GRCh38]
Chr17:16603130..20331605 [GRCh37]
Chr17:16543855..20272197 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 copy number loss See cases [RCV000143210] Chr17:16858500..20559337 [GRCh38]
Chr17:16761814..20462650 [GRCh37]
Chr17:16702539..20403242 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 copy number loss See cases [RCV000143177] Chr17:15883037..20658018 [GRCh38]
Chr17:15786351..20561331 [GRCh37]
Chr17:15727076..20501923 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 copy number gain See cases [RCV000143715] Chr17:16426633..20998588 [GRCh38]
Chr17:16329947..20901901 [GRCh37]
Chr17:16270672..20842493 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 copy number loss See cases [RCV000143650] Chr17:15850859..20649235 [GRCh38]
Chr17:15754173..20552548 [GRCh37]
Chr17:15694898..20493140 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 copy number loss See cases [RCV000143596] Chr17:16853120..20436482 [GRCh38]
Chr17:16756434..20339795 [GRCh37]
Chr17:16697159..20280387 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 copy number loss See cases [RCV000143485] Chr17:15729893..20510251 [GRCh38]
Chr17:15633207..20413564 [GRCh37]
Chr17:15573932..20354156 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1 copy number loss See cases [RCV000449069] Chr17:16603130..20261191 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 copy number gain See cases [RCV000240104] Chr17:15767020..20261250 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1 copy number loss See cases [RCV000239910] Chr17:17053390..19893098 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1 copy number loss See cases [RCV000240274] Chr17:16654302..20261250 [GRCh37]
Chr17:17p11.2		 pathogenic
arr[hg19]17p11.2(16,757,111-20,219,651)x3 duplication Potocki-Lupski syndrome [RCV000591005] Chr17:16757111..20219651 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3 copy number gain See cases [RCV000449384] Chr17:16740141..20261191 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-18722974)x1 copy number loss See cases [RCV000449355] Chr17:16651292..18722974 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 copy number loss See cases [RCV000446498] Chr17:15745315..20261191 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1 copy number loss See cases [RCV000446300] Chr17:16761814..20304295 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1 copy number loss See cases [RCV000446465] Chr17:16637902..20261250 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3 copy number gain See cases [RCV000445753] Chr17:16741771..20430791 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:18265938-18284408)x3 copy number gain See cases [RCV000447997] Chr17:18265938..18284408 [GRCh37]
Chr17:17p11.2		 benign
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1 copy number loss See cases [RCV000448145] Chr17:16757564..20261191 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1 copy number loss See cases [RCV000448636] Chr17:16741411..20304154 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1 copy number loss See cases [RCV000448404] Chr17:16741411..20449523 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1 copy number loss See cases [RCV000447955] Chr17:16741411..20408379 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1 copy number loss See cases [RCV000448752] Chr17:16761814..20462723 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3 copy number gain See cases [RCV000448097] Chr17:16772264..20433502 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1 copy number loss See cases [RCV000510506] Chr17:16745600..20396173 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1 copy number loss See cases [RCV000510254] Chr17:17200426..21900910 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3 copy number gain See cases [RCV000510267] Chr17:16761814..20339795 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1 copy number loss See cases [RCV000511412] Chr17:16727264..20413564 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1 copy number loss See cases [RCV000511915] Chr17:16772264..20297091 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1 copy number loss See cases [RCV000511460] Chr17:16741411..20410218 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3 copy number gain See cases [RCV000511433] Chr17:16738161..20338182 [GRCh37]
Chr17:17p11.2		 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
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1 copy number loss See cases [RCV000511111] Chr17:16727264..20395889 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3 copy number gain See cases [RCV000511042] Chr17:16651292..20437532 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_001145127.2(EVPLL):c.653G>C (p.Gly218Ala) single nucleotide variant not specified [RCV004313804] Chr17:18383166 [GRCh38]
Chr17:18286480 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.499C>A (p.Pro167Thr) single nucleotide variant not specified [RCV004325457] Chr17:18382852 [GRCh38]
Chr17:18286166 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16782546-20294038) copy number loss Sleep abnormality [RCV000626510] Chr17:16782546..20294038 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3 copy number gain See cases [RCV000512356] Chr17:16591260..20473937 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16842163-20217777) copy number gain Delayed speech and language development [RCV000626511] Chr17:16842163..20217777 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1 copy number loss See cases [RCV000512446] Chr17:16741411..20489023 [GRCh37]
Chr17:17p11.2		 pathogenic
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 17p11.2(chr17:16727264-20310241)x1 copy number loss not provided [RCV000683897] Chr17:16727264..20310241 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3 copy number gain not provided [RCV000683900] Chr17:16761814..20292897 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1 copy number loss not provided [RCV000683901] Chr17:16999980..20298979 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1 copy number loss not provided [RCV000683902] Chr17:17021607..20015978 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1 copy number loss not provided [RCV000683898] Chr17:16741411..20430791 [GRCh37]
Chr17:17p11.2		 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
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1 copy number loss not provided [RCV000739423] Chr17:16768248..20391959 [GRCh37]
Chr17:17p11.2		 pathogenic
Single allele duplication Autism [RCV000754201] Chr17:16770855..20422847 [GRCh38]
Chr17:17p11.2		 pathogenic
NC_000017.11:g.(?_16770855)_(20585863_?)del deletion Autism [RCV000754202] Chr17:16770855..20585863 [GRCh38]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1 copy number loss not provided [RCV000739417] Chr17:16660721..20417975 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 copy number gain not provided [RCV000751941] Chr17:15796140..20331131 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1 copy number loss See cases [RCV000790581] Chr17:16908991..18322254 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16842991-20217316) copy number loss Smith-Magenis syndrome [RCV000767738] Chr17:16842991..20217316 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17151140-20187953) copy number loss Smith-Magenis syndrome [RCV002280652] Chr17:17151140..20187953 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1 copy number loss not provided [RCV001006874] Chr17:15632431..18726389 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:18125256-18304190)x3 copy number gain not provided [RCV001259292] Chr17:18125256..18304190 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1 copy number loss not provided [RCV001259296] Chr17:15810015..18537436 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3 copy number gain not provided [RCV001259290] Chr17:16761814..20330062 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1 copy number loss not provided [RCV001259291] Chr17:16763370..20395611 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17145361-20137943) copy number loss Smith-Magenis syndrome [RCV001352632] Chr17:17145361..20137943 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16601603-20063369) copy number gain Potocki-Lupski syndrome [RCV001352635] Chr17:16601603..20063369 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17579860-18469185) copy number gain Potocki-Lupski syndrome [RCV002280640] Chr17:17579860..18469185 [GRCh37]
Chr17:17p11.2		 pathogenic
Single allele complex PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690] Chr17:14876984..22124952 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3 copy number gain Potocki-Lupski syndrome [RCV001801179] Chr17:16829153..20361747 [GRCh37]
Chr17:17p11.2		 pathogenic
NC_000017.10:g.(?_16842861)_(19578885_?)del deletion Immunodeficiency, common variable, 2 [RCV002049406]|Joubert syndrome [RCV002047402] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1 copy number loss not provided [RCV002211424] Chr17:16664739..20217378 [GRCh37]
Chr17:17p11.2		 pathogenic
NC_000017.10:g.(?_16842861)_(19578885_?)dup duplication Familial aplasia of the vermis [RCV003116613]|Immunodeficiency, common variable, 2 [RCV003116614] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.111G>C (p.Glu37Asp) single nucleotide variant not specified [RCV004313803] Chr17:18381414 [GRCh38]
Chr17:18284728 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16664739-20370783) copy number gain Potocki-Lupski syndrome [RCV003236713] Chr17:16664739..20370783 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20286898) copy number loss Smith-Magenis syndrome [RCV002280651] Chr17:16651292..20286898 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3 copy number gain See cases [RCV002292216] Chr17:16736709..20339460 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.317G>A (p.Arg106Gln) single nucleotide variant not specified [RCV004287615] Chr17:18381701 [GRCh38]
Chr17:18285015 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3 copy number gain not provided [RCV002474502] Chr17:17103571..19331028 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_001145127.2(EVPLL):c.130G>A (p.Glu44Lys) single nucleotide variant not specified [RCV004087934] Chr17:18381433 [GRCh38]
Chr17:18284747 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.179G>A (p.Arg60Gln) single nucleotide variant not specified [RCV004191565] Chr17:18381482 [GRCh38]
Chr17:18284796 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.172A>G (p.Lys58Glu) single nucleotide variant not specified [RCV004223645] Chr17:18381475 [GRCh38]
Chr17:18284789 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.230T>G (p.Leu77Arg) single nucleotide variant not specified [RCV004213212] Chr17:18381614 [GRCh38]
Chr17:18284928 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.178C>T (p.Arg60Trp) single nucleotide variant not specified [RCV004225420] Chr17:18381481 [GRCh38]
Chr17:18284795 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.449C>A (p.Ala150Glu) single nucleotide variant not specified [RCV004112212] Chr17:18382615 [GRCh38]
Chr17:18285929 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.134C>T (p.Ala45Val) single nucleotide variant not specified [RCV004083503] Chr17:18381437 [GRCh38]
Chr17:18284751 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.541G>A (p.Gly181Arg) single nucleotide variant not specified [RCV004103858] Chr17:18383054 [GRCh38]
Chr17:18286368 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.301C>T (p.Arg101Cys) single nucleotide variant not specified [RCV004221839] Chr17:18381685 [GRCh38]
Chr17:18284999 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.228G>C (p.Gln76His) single nucleotide variant not specified [RCV004092353] Chr17:18381612 [GRCh38]
Chr17:18284926 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.277G>A (p.Glu93Lys) single nucleotide variant not specified [RCV004216755] Chr17:18381661 [GRCh38]
Chr17:18284975 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1 copy number loss not provided [RCV003222939] Chr17:17116969..20217378 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_001145127.2(EVPLL):c.775A>T (p.Ile259Phe) single nucleotide variant not specified [RCV004353258] Chr17:18383373 [GRCh38]
Chr17:18286687 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1 copy number loss not provided [RCV003483315] Chr17:16651293..20450566 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1 copy number loss not provided [RCV003483314] Chr17:15694772..20582794 [GRCh37]
Chr17:17p12-11.2		 pathogenic
Single allele duplication not provided [RCV003448668] Chr17:16757513..18772328 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_001145127.2(EVPLL):c.876+16dup duplication not provided [RCV003834043] Chr17:18383602..18383603 [GRCh38]
Chr17:18286916..18286917 [GRCh37]
Chr17:17p11.2		 benign
GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1 copy number loss not specified [RCV003987246] Chr17:15759103..20564268 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_001145127.2(EVPLL):c.29G>A (p.Arg10Gln) single nucleotide variant not specified [RCV004383313] Chr17:18380966 [GRCh38]
Chr17:18284280 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.214A>G (p.Lys72Glu) single nucleotide variant not specified [RCV004383311] Chr17:18381517 [GRCh38]
Chr17:18284831 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001145127.2(EVPLL):c.238C>T (p.Arg80Trp) single nucleotide variant not specified [RCV004383312] Chr17:18381622 [GRCh38]
Chr17:18284936 [GRCh37]
Chr17:17p11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:816
Count of miRNA genes:560
Interacting mature miRNAs:621
Transcripts:ENST00000399134, ENST00000583003
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
G33172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,282,401 - 18,282,607UniSTSGRCh37
Build 361718,223,126 - 18,223,332RGDNCBI36
Celera1719,233,881 - 19,234,087RGD
Cytogenetic Map17p11.2UniSTS
HuRef1718,045,487 - 18,045,693UniSTS


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 1 21 44 1 1 8
Low 173 5 727 238 28 198 1322 3 18 154 712 1089 48 1 141 660 1 1
Below cutoff 671 363 531 265 358 174 821 250 690 167 245 363 96 755 320 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC240249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000399134   ⟹   ENSP00000382086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,377,778 - 18,389,647 (+)Ensembl
RefSeq Acc Id: ENST00000583003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,386,404 - 18,389,377 (+)Ensembl
RefSeq Acc Id: NM_001145127   ⟹   NP_001138599
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,377,778 - 18,389,647 (+)NCBI
GRCh371718,281,079 - 18,292,961 (+)RGD
Celera1719,232,559 - 19,238,172 (+)RGD
HuRef1718,044,165 - 18,055,990 (+)ENTREZGENE
CHM1_11718,290,055 - 18,301,942 (+)NCBI
T2T-CHM13v2.01718,324,591 - 18,336,464 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523982   ⟹   XP_011522284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,377,778 - 18,389,647 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523983   ⟹   XP_011522285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,377,778 - 18,387,118 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523985   ⟹   XP_011522287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,377,778 - 18,389,647 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523986   ⟹   XP_011522288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,387,177 - 18,389,647 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523987   ⟹   XP_011522289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,377,778 - 18,383,112 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436537   ⟹   XP_047292493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,377,778 - 18,389,647 (+)NCBI
RefSeq Acc Id: XM_047436538   ⟹   XP_047292494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,377,778 - 18,389,647 (+)NCBI
RefSeq Acc Id: XM_054316921   ⟹   XP_054172896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,324,591 - 18,336,469 (+)NCBI
RefSeq Acc Id: XM_054316922   ⟹   XP_054172897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,324,591 - 18,336,464 (+)NCBI
RefSeq Acc Id: XM_054316923   ⟹   XP_054172898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,324,591 - 18,333,935 (+)NCBI
RefSeq Acc Id: XM_054316924   ⟹   XP_054172899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,324,591 - 18,336,464 (+)NCBI
RefSeq Acc Id: XM_054316925   ⟹   XP_054172900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,333,994 - 18,336,464 (+)NCBI
RefSeq Acc Id: XM_054316926   ⟹   XP_054172901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,324,591 - 18,336,464 (+)NCBI
RefSeq Acc Id: XM_054316927   ⟹   XP_054172902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,324,591 - 18,329,925 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001138599   ⟸   NM_001145127
- UniProtKB: B4DPD4 (UniProtKB/Swiss-Prot),   A8MZ36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011522287   ⟸   XM_011523985
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011522284   ⟸   XM_011523982
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011522285   ⟸   XM_011523983
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011522289   ⟸   XM_011523987
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011522288   ⟸   XM_011523986
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000382086   ⟸   ENST00000399134
RefSeq Acc Id: XP_047292493   ⟸   XM_047436537
- Peptide Label: isoform X1
- UniProtKB: A8MZ36 (UniProtKB/Swiss-Prot),   B4DPD4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047292494   ⟸   XM_047436538
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054172896   ⟸   XM_054316921
- Peptide Label: isoform X1
- UniProtKB: A8MZ36 (UniProtKB/Swiss-Prot),   B4DPD4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054172899   ⟸   XM_054316924
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172897   ⟸   XM_054316922
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054172901   ⟸   XM_054316926
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054172898   ⟸   XM_054316923
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172902   ⟸   XM_054316927
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054172900   ⟸   XM_054316925
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8MZ36-F1-model_v2 AlphaFold A8MZ36 1-301 view protein structure

Promoters
RGD ID:6793775
Promoter ID:HG_KWN:25264
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000399134
Position:
Human AssemblyChrPosition (strand)Source
Build 361718,221,351 - 18,221,851 (+)MPROMDB
RGD ID:7234219
Promoter ID:EPDNEW_H22855
Type:initiation region
Name:EVPLL_1
Description:envoplakin like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22856  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,377,659 - 18,377,719EPDNEW
RGD ID:7234221
Promoter ID:EPDNEW_H22856
Type:multiple initiation site
Name:EVPLL_2
Description:envoplakin like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22855  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,377,778 - 18,377,838EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC EVPLL COSMIC
Ensembl Genes ENSG00000214860 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000284166 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000399134 ENTREZGENE
  ENST00000399134.5 UniProtKB/Swiss-Prot
  ENST00000640722.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.58.60 UniProtKB/Swiss-Prot
GTEx ENSG00000214860 GTEx
  ENSG00000284166 GTEx
HGNC ID HGNC:35236 ENTREZGENE
Human Proteome Map EVPLL Human Proteome Map
InterPro Plakin UniProtKB/Swiss-Prot
KEGG Report hsa:645027 UniProtKB/Swiss-Prot
NCBI Gene 645027 ENTREZGENE
PANTHER PTHR23169 UniProtKB/Swiss-Prot
  PTHR23169:SF7 UniProtKB/Swiss-Prot
PharmGKB PA164719396 PharmGKB
Superfamily-SCOP Spectrin repeat UniProtKB/Swiss-Prot
UniProt A8MZ36 ENTREZGENE
  B4DPD4 ENTREZGENE
  EVPLL_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DPD4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 EVPLL  envoplakin like    envoplakin-like  Symbol and/or name change 5135510 APPROVED