EPPK1 (epiplakin 1) - Rat Genome Database

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Gene: EPPK1 (epiplakin 1) Homo sapiens
Analyze
Symbol: EPPK1
Name: epiplakin 1
RGD ID: 1343625
HGNC Page HGNC
Description: Exhibits intermediate filament binding activity. Involved in several processes, including intermediate filament organization; negative regulation of epithelial cell proliferation; and negative regulation of wound healing. Localizes to several cellular components, including hemidesmosome; keratin filament; and perinucleolar compartment. Predicted to colocalize with intermediate filament.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 450 kDa epidermal antigen; epidermal autoantigen 450K; EPIPL; EPIPL1; epiplakin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh38.p13 Ensembl8143,857,324 - 143,878,464 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8143,857,324 - 143,878,467 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,857,319 - 143,879,043 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,939,497 - 144,952,635 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,012,206 - 145,019,422 (-)NCBINCBI36hg18NCBI36
Build 348145,011,899 - 145,019,422NCBI
Celera8141,252,725 - 141,261,566 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,192,173 - 140,206,900 (-)NCBIHuRef
CHM1_18144,979,743 - 144,992,882 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Chloracne  (EXP)

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

Additional References at PubMed
PMID:8618051   PMID:11278896   PMID:11854008   PMID:12577067   PMID:12665801   PMID:12791695   PMID:14708632   PMID:15342556   PMID:15671067   PMID:16009940   PMID:16083285   PMID:16159877  
PMID:16341674   PMID:16565220   PMID:16923132   PMID:17081983   PMID:17353931   PMID:17499243   PMID:19322062   PMID:20467437   PMID:21145461   PMID:21182205   PMID:21800051   PMID:21873635  
PMID:22190034   PMID:22586326   PMID:22681889   PMID:22939629   PMID:23398049   PMID:23443559   PMID:23549274   PMID:24711643   PMID:25324306   PMID:25544563   PMID:25582440   PMID:25670202  
PMID:25959826   PMID:25963833   PMID:26186194   PMID:26496610   PMID:26618866   PMID:26638075   PMID:26674342   PMID:26777405   PMID:27206504   PMID:27248496   PMID:28027390   PMID:28514442  
PMID:28515276   PMID:28685749   PMID:29507755   PMID:29509190   PMID:29511296   PMID:29549164   PMID:29844126   PMID:29911972   PMID:29955894   PMID:30154076   PMID:30258100   PMID:30575818  
PMID:31073027   PMID:31091453   PMID:31180492   PMID:31300519   PMID:31586073   PMID:31594818   PMID:32203420   PMID:32786267  


Genomics

Comparative Map Data
EPPK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,857,324 - 143,878,464 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8143,857,324 - 143,878,467 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,857,319 - 143,879,043 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,939,497 - 144,952,635 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,012,206 - 145,019,422 (-)NCBINCBI36hg18NCBI36
Build 348145,011,899 - 145,019,422NCBI
Celera8141,252,725 - 141,261,566 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,192,173 - 140,206,900 (-)NCBIHuRef
CHM1_18144,979,743 - 144,992,882 (-)NCBICHM1_1
Eppk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,973,337 - 76,004,395 (-)NCBIGRCm39mm39
GRCm381576,101,488 - 76,120,195 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,101,481 - 76,120,195 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,932,758 - 75,950,625 (-)NCBIGRCm37mm9NCBIm37
MGSCv361575,929,617 - 75,947,450 (-)NCBImm8
MGSCv361576,602,417 - 76,609,922 (-)NCBImm8
Celera1577,603,256 - 77,619,574 (-)NCBICelera
Cytogenetic Map15D3NCBI
Eppk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,816,919 - 107,842,946 (-)NCBI
Rnor_6.07117,163,383 - 117,173,741 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,149,054 - 117,163,278 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,135,306 - 114,146,330 (-)NCBIRGSC3.4rn4RGSC3.4
Celera7104,173,506 - 104,196,312 (-)NCBICelera
Cytogenetic Map7q34NCBI
Eppk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554542,512,151 - 2,526,080 (-)NCBIChiLan1.0ChiLan1.0
EPPK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,622,959 - 143,633,013 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08140,611,627 - 140,640,303 (-)NCBIMhudiblu_PPA_v0panPan3
EPPK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,401,099 - 37,410,739 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,357,303 - 37,379,116 (-)NCBI
ROS_Cfam_1.01337,872,756 - 37,889,854 (-)NCBI
UMICH_Zoey_3.11337,546,816 - 37,563,924 (-)NCBI
UNSW_CanFamBas_1.01337,663,776 - 37,691,670 (-)NCBI
UU_Cfam_GSD_1.01338,145,134 - 38,168,512 (-)NCBI
LOC101961294
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303876,729 - 891,786 (+)NCBI
SpeTri2.0NW_0049364708,308,135 - 8,317,259 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPPK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14780,276 - 798,760 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103237730
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,072,057 - 138,086,757 (-)NCBI

Position Markers
D8S2104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,939,549 - 144,939,693UniSTSGRCh37
Build 368145,011,537 - 145,011,681RGDNCBI36
Celera8141,252,087 - 141,252,231RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,192,230 - 140,192,374UniSTS
GeneMap99-G3 RH Map84495.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR193Bhsa-miR-193b-3pMirtarbaseexternal_infoProteomicsFunctional MTI (Weak)21512034

Predicted Target Of
Summary Value
Count of predictions:572
Count of miRNA genes:253
Interacting mature miRNAs:265
Transcripts:ENST00000525985
Prediction methods:Microtar, 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.


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 adipose tissue appendage entire extraembryonic component
High
Medium 62 5 5 6 553 14 6 31 31 5 338
Low 2092 521 117 163 380 20 1203 882 312 97 821 618 150 51 607 4
Below cutoff 186 2418 1346 261 873 245 2468 1244 3318 72 390 798 16 1142 1817

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB107036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC234917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM851776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP313273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS673558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS690941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB665694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM706906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000568225   ⟹   ENSP00000456124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,857,737 - 143,873,266 (-)Ensembl
RefSeq Acc Id: ENST00000615648   ⟹   ENSP00000484472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,857,324 - 143,878,467 (-)Ensembl
RefSeq Acc Id: NM_031308   ⟹   NP_112598
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,857,324 - 143,878,467 (-)NCBI
GRCh378144,939,492 - 144,952,632 (-)NCBI
Build 368145,012,206 - 145,019,422 (-)NCBI Archive
Celera8141,252,725 - 141,261,566 (-)RGD
HuRef8140,192,173 - 140,206,900 (-)NCBI
CHM1_18144,979,743 - 144,992,882 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013890   ⟹   XP_016869379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,857,319 - 143,879,043 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013892   ⟹   XP_016869381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,857,319 - 143,878,496 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_112598   ⟸   NM_031308
- UniProtKB: P58107 (UniProtKB/Swiss-Prot),   A0A087X1U6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869379   ⟸   XM_017013890
- Peptide Label: isoform X2
- UniProtKB: A0A087X1U6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869381   ⟸   XM_017013892
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000484472   ⟸   ENST00000615648
RefSeq Acc Id: ENSP00000456124   ⟸   ENST00000568225

Promoters
RGD ID:6814796
Promoter ID:HG_XEF:8134
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_144848
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,013,426 - 145,017,527 (-)MPROMDB

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 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 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(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
NM_031308.3(EPPK1):c.4572C>T (p.Leu1524=) single nucleotide variant Malignant melanoma [RCV000068201] Chr8:143868682 [GRCh38]
Chr8:144942850 [GRCh37]
Chr8:145014838 [NCBI36]
Chr8:8q24.3
not provided
NM_031308.3(EPPK1):c.2682G>A (p.Glu894=) single nucleotide variant Malignant melanoma [RCV000068202] Chr8:143870572 [GRCh38]
Chr8:144944740 [GRCh37]
Chr8:145016728 [NCBI36]
Chr8:8q24.3
not provided
NM_031308.3(EPPK1):c.2385C>G (p.Leu795=) single nucleotide variant Malignant melanoma [RCV000068203] Chr8:143870869 [GRCh38]
Chr8:144945037 [GRCh37]
Chr8:145017025 [NCBI36]
Chr8:8q24.3
not provided
NM_031308.3(EPPK1):c.2383C>A (p.Leu795Ile) single nucleotide variant Malignant melanoma [RCV000068204] Chr8:143870871 [GRCh38]
Chr8:144945039 [GRCh37]
Chr8:145017027 [NCBI36]
Chr8:8q24.3
not provided
NM_031308.3(EPPK1):c.2379G>C (p.Leu793=) single nucleotide variant Malignant melanoma [RCV000068205] Chr8:143870875 [GRCh38]
Chr8:144945043 [GRCh37]
Chr8:145017031 [NCBI36]
Chr8:8q24.3
not provided
NM_031308.3(EPPK1):c.2346G>A (p.Leu782=) single nucleotide variant Malignant melanoma [RCV000068206] Chr8:143870908 [GRCh38]
Chr8:144945076 [GRCh37]
Chr8:145017064 [NCBI36]
Chr8:8q24.3
not provided
NM_031308.3(EPPK1):c.5130C>T (p.Phe1710=) single nucleotide variant Malignant melanoma [RCV000061765] Chr8:143868124 [GRCh38]
Chr8:144942292 [GRCh37]
Chr8:145014280 [NCBI36]
Chr8:8q24.3
not provided
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 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
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(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
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(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [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 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 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 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(chr8:144775871-144943223)x3 copy number gain not provided [RCV000747964] Chr8:144775871..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144808293-144943223)x3 copy number gain not provided [RCV000747968] Chr8:144808293..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144810306-144943223)x3 copy number gain not provided [RCV000747974] Chr8:144810306..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144811338-145058399)x3 copy number gain not provided [RCV000747975] Chr8:144811338..145058399 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144811340-144943223)x3 copy number gain not provided [RCV000747976] Chr8:144811340..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144943389-144945753)x1 copy number loss not provided [RCV000747977] Chr8:144943389..144945753 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144943389-144946271)x4 copy number gain not provided [RCV000747978] Chr8:144943389..144946271 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144943389-144947117)x4 copy number gain not provided [RCV000747979] Chr8:144943389..144947117 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144943389-144947245)x4 copy number gain not provided [RCV000747980] Chr8:144943389..144947245 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144943389-144947325)x4 copy number gain not provided [RCV000747981] Chr8:144943389..144947325 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144943389-144948861)x4 copy number gain not provided [RCV000747982] Chr8:144943389..144948861 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144943389-144956400)x4 copy number gain not provided [RCV000747983] Chr8:144943389..144956400 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144943446-144947325)x3 copy number gain not provided [RCV000747984] Chr8:144943446..144947325 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144946763-145024628)x3 copy number gain not provided [RCV000747985] Chr8:144946763..145024628 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144946763-145058037)x3 copy number gain not provided [RCV000747986] Chr8:144946763..145058037 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144947129-145058713)x3 copy number gain not provided [RCV000747987] Chr8:144947129..145058713 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144947319-145058037)x3 copy number gain not provided [RCV000747988] Chr8:144947319..145058037 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
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 8q24.3(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 8q24.23-24.3(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 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_031308.4(EPPK1):c.6634G>T (p.Glu2212Ter) single nucleotide variant none provided [RCV001285900] Chr8:143866620 [GRCh38]
Chr8:144940788 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15577 AgrOrtholog
COSMIC EPPK1 COSMIC
Ensembl Genes ENSG00000261150 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000456124 UniProtKB/TrEMBL
  ENSP00000484472 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000568225 UniProtKB/TrEMBL
  ENST00000615648 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.1290.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000261150 GTEx
HGNC ID HGNC:15577 ENTREZGENE
Human Proteome Map EPPK1 Human Proteome Map
InterPro Plakin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plakin_repeat_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plectin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83481 UniProtKB/Swiss-Prot
NCBI Gene 83481 ENTREZGENE
OMIM 607553 OMIM
PANTHER PTHR23169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Plectin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27835 PharmGKB
SMART PLEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF75399 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B730_HUMAN UniProtKB/TrEMBL
  A0A087X1U6 ENTREZGENE
  EPIPL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A087X1U6 UniProtKB/Swiss-Prot
  Q76E58 UniProtKB/Swiss-Prot
  Q9NSU9 UniProtKB/Swiss-Prot