SHARPIN (SHANK associated RH domain interactor) - Rat Genome Database

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Gene: SHARPIN (SHANK associated RH domain interactor) Homo sapiens
Analyze
Symbol: SHARPIN
Name: SHANK associated RH domain interactor
RGD ID: 1603608
HGNC Page HGNC
Description: Exhibits polyubiquitin modification-dependent protein binding activity. Involved in protein linear polyubiquitination and regulation of signal transduction. Localizes to LUBAC complex and cytosol; PARTICIPATES IN integrin mediated signaling pathway; nuclear factor kappa B signaling pathway; tumor necrosis factor mediated signaling pathway; INTERACTS WITH acrylamide; antirheumatic drug; doxorubicin.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp434N1923; hSIPL1; SHANK-associated RH domain interactor; shank-associated RH domain-interacting protein; shank-interacting protein-like 1; SIPL1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,098,633 - 144,108,124 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,098,637 - 144,104,248 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,153,540 - 145,158,676 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,225,524 - 145,231,128 (-)NCBINCBI36hg18NCBI36
Celera8141,491,053 - 141,496,661 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,429,413 - 140,435,021 (-)NCBIHuRef
CHM1_18145,193,744 - 145,199,521 (-)NCBICHM1_1
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
Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:11178875   PMID:11230166   PMID:12477932   PMID:12753155   PMID:15146197   PMID:15489334   PMID:16751776   PMID:18950845   PMID:20179993   PMID:20458142   PMID:20956555   PMID:21455173  
PMID:21455180   PMID:21455181   PMID:21709223   PMID:21873635   PMID:21947080   PMID:21988832   PMID:22158122   PMID:22549881   PMID:22607974   PMID:22750873   PMID:22791023   PMID:23032186  
PMID:23032187   PMID:23104095   PMID:23443559   PMID:23746843   PMID:23818254   PMID:23897824   PMID:23986494   PMID:24141947   PMID:24210817   PMID:24726323   PMID:24726327   PMID:24816252  
PMID:25018115   PMID:25152374   PMID:25443631   PMID:25992689   PMID:25996949   PMID:26186194   PMID:26496610   PMID:26506596   PMID:26577923   PMID:26600301   PMID:26670046   PMID:27070702  
PMID:27307491   PMID:27458237   PMID:27523608   PMID:27545878   PMID:27552911   PMID:27560715   PMID:27591049   PMID:27810922   PMID:27893701   PMID:27903798   PMID:28063307   PMID:28190767  
PMID:28230260   PMID:28244869   PMID:28249776   PMID:28514442   PMID:28775156   PMID:28919039   PMID:28978479   PMID:28986522   PMID:29100376   PMID:29227283   PMID:29248549   PMID:29694895  
PMID:30230040   PMID:30348973   PMID:30354204   PMID:30420664   PMID:30561431   PMID:30804189   PMID:30886048   PMID:30913450   PMID:31067453   PMID:31401046   PMID:31461795   PMID:31898971  
PMID:32019898   PMID:32122970   PMID:32296183   PMID:32319607   PMID:32403254  


Genomics

Comparative Map Data
SHARPIN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,098,633 - 144,108,124 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,098,637 - 144,104,248 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,153,540 - 145,158,676 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,225,524 - 145,231,128 (-)NCBINCBI36hg18NCBI36
Celera8141,491,053 - 141,496,661 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,429,413 - 140,435,021 (-)NCBIHuRef
CHM1_18145,193,744 - 145,199,521 (-)NCBICHM1_1
Sharpin
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,231,240 - 76,235,310 (-)NCBIGRCm39mm39
GRCm39 Ensembl1576,231,240 - 76,235,311 (-)Ensembl
GRCm381576,347,040 - 76,351,110 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,347,040 - 76,351,111 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,177,470 - 76,181,540 (-)NCBIGRCm37mm9NCBIm37
MGSCv361576,174,295 - 76,178,352 (-)NCBImm8
Celera1577,847,101 - 77,851,171 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.75NCBI
Sharpin
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,070,681 - 108,075,012 (-)NCBI
Rnor_6.0 Ensembl7117,413,152 - 117,417,363 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,413,151 - 117,417,455 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,400,781 - 117,404,993 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,397,762 - 114,401,974 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,431,992 - 114,436,204 (-)NCBI
Celera7104,423,008 - 104,427,220 (-)NCBICelera
Cytogenetic Map7q34NCBI
Sharpin
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,761,725 - 2,765,929 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,761,725 - 2,765,929 (-)NCBIChiLan1.0ChiLan1.0
SHARPIN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,856,956 - 143,862,602 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,854,902 - 143,862,888 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,865,009 - 140,870,580 (-)NCBIMhudiblu_PPA_v0panPan3
SHARPIN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,594,155 - 37,598,510 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,594,203 - 37,599,456 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,557,849 - 37,561,963 (-)NCBI
ROS_Cfam_1.01338,070,379 - 38,074,493 (-)NCBI
UMICH_Zoey_3.11337,742,437 - 37,746,551 (-)NCBI
UNSW_CanFamBas_1.01337,871,117 - 37,875,231 (-)NCBI
UU_Cfam_GSD_1.01338,347,294 - 38,351,410 (-)NCBI
Sharpin
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303650,325 - 655,780 (+)NCBI
SpeTri2.0NW_0049364708,076,605 - 8,081,872 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHARPIN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4600,698 - 605,702 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14600,698 - 605,711 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24753,842 - 758,839 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SHARPIN
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,310,036 - 138,315,120 (-)NCBI
Sharpin
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,719,196 - 12,723,578 (+)NCBI

Position Markers
RH65611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,160,874 - 145,161,088UniSTSGRCh37
Build 368145,232,862 - 145,233,076RGDNCBI36
Celera8141,498,397 - 141,498,611RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,436,757 - 140,436,971UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2976
Count of miRNA genes:815
Interacting mature miRNAs:1003
Transcripts:ENST00000359551, ENST00000398712, ENST00000525275, ENST00000530216, ENST00000531375, ENST00000532536, ENST00000533184, ENST00000533948, ENST00000534242, ENST00000534435
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.


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 1
Medium 2431 2931 1714 613 1939 455 4355 2146 3653 417 1446 1607 171 1204 2788 3
Low 8 59 12 11 12 10 1 51 81 2 13 6 4 1 3 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_030974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_038270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB052764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB052765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE877614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI911222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN260986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS051355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ583527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ655995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359551   ⟹   ENSP00000352551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,098,637 - 144,104,237 (-)Ensembl
RefSeq Acc Id: ENST00000398712   ⟹   ENSP00000381698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,098,637 - 144,103,773 (-)Ensembl
RefSeq Acc Id: ENST00000525275
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,099,301 - 144,099,989 (-)Ensembl
RefSeq Acc Id: ENST00000530216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,099,250 - 144,100,842 (-)Ensembl
RefSeq Acc Id: ENST00000531375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,102,817 - 144,103,756 (-)Ensembl
RefSeq Acc Id: ENST00000532536   ⟹   ENSP00000432355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,098,633 - 144,099,322 (-)Ensembl
RefSeq Acc Id: ENST00000533184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,103,117 - 144,108,124 (-)Ensembl
RefSeq Acc Id: ENST00000533948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,099,519 - 144,104,269 (-)Ensembl
RefSeq Acc Id: ENST00000534242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,099,291 - 144,104,250 (-)Ensembl
RefSeq Acc Id: ENST00000534435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,102,642 - 144,104,096 (-)Ensembl
RefSeq Acc Id: NM_030974   ⟹   NP_112236
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,098,637 - 144,103,773 (-)NCBI
GRCh378145,153,536 - 145,159,140 (-)RGD
Build 368145,225,524 - 145,231,128 (-)NCBI Archive
Celera8141,491,053 - 141,496,661 (-)RGD
HuRef8140,429,413 - 140,435,021 (-)ENTREZGENE
CHM1_18145,193,744 - 145,199,521 (-)NCBI
Sequence:
RefSeq Acc Id: NR_038270
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,098,637 - 144,103,773 (-)NCBI
GRCh378145,153,536 - 145,159,140 (-)ENTREZGENE
HuRef8140,429,413 - 140,435,021 (-)ENTREZGENE
CHM1_18145,193,748 - 145,199,519 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013887   ⟹   XP_016869376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,098,637 - 144,104,248 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013888   ⟹   XP_016869377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,098,637 - 144,104,248 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_112236   ⟸   NM_030974
- UniProtKB: Q9H0F6 (UniProtKB/Swiss-Prot),   Q6PJD5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869377   ⟸   XM_017013888
- Peptide Label: isoform X2
- UniProtKB: Q9H0F6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869376   ⟸   XM_017013887
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000381698   ⟸   ENST00000398712
RefSeq Acc Id: ENSP00000352551   ⟸   ENST00000359551
RefSeq Acc Id: ENSP00000432355   ⟸   ENST00000532536
Protein Domains
RanBP2-type   Ubiquitin-like

Promoters
RGD ID:7214431
Promoter ID:EPDNEW_H12962
Type:initiation region
Name:SHARPIN_2
Description:SHANK associated RH domain interactor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12963  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,103,757 - 144,103,817EPDNEW
RGD ID:7214433
Promoter ID:EPDNEW_H12963
Type:initiation region
Name:SHARPIN_1
Description:SHANK associated RH domain interactor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12962  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,104,169 - 144,104,229EPDNEW
RGD ID:6813513
Promoter ID:HG_ACW:79387
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:SHARPIN.HAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,226,346 - 145,227,062 (-)MPROMDB
RGD ID:6806877
Promoter ID:HG_KWN:62314
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:ENST00000321205,   ENST00000359551,   ENST00000361077,   NM_030974,   NM_032272,   UC003ZBB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,229,711 - 145,231,792 (+)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 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)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(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
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
NM_030974.4(SHARPIN):c.154C>A (p.Arg52=) single nucleotide variant not specified [RCV000454723] Chr8:144103600 [GRCh38]
Chr8:145158503 [GRCh37]
Chr8:8q24.3
benign
NM_030974.4(SHARPIN):c.880C>T (p.Pro294Ser) single nucleotide variant not specified [RCV000455138] Chr8:144099319 [GRCh38]
Chr8:145154222 [GRCh37]
Chr8:8q24.3
benign
NM_032272.5(MAF1):c.60T>C (p.Thr20=) single nucleotide variant not specified [RCV000455364] Chr8:144105743 [GRCh38]
Chr8:145160646 [GRCh37]
Chr8:8q24.3
benign
NM_030974.4(SHARPIN):c.201+10G>A single nucleotide variant not specified [RCV000455734] Chr8:144103543 [GRCh38]
Chr8:145158446 [GRCh37]
Chr8:8q24.3
benign
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(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
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 8q24.3(chr8:145101381-145161823)x3 copy number gain not provided [RCV000748007] Chr8:145101381..145161823 [GRCh37]
Chr8:8q24.3
benign
NM_030974.4(SHARPIN):c.517+9G>T single nucleotide variant not provided [RCV000882712] Chr8:144099920 [GRCh38]
Chr8:145154823 [GRCh37]
Chr8:8q24.3
benign
NM_030974.4(SHARPIN):c.1094G>A (p.Arg365His) single nucleotide variant not provided [RCV000882197] Chr8:144098948 [GRCh38]
Chr8:145153851 [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
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)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 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 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25321 AgrOrtholog
COSMIC SHARPIN COSMIC
Ensembl Genes ENSG00000179526 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000352551 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381698 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432355 UniProtKB/TrEMBL
Ensembl Transcript ENST00000359551 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398712 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000532536 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot
GTEx ENSG00000179526 GTEx
HGNC ID HGNC:25321 ENTREZGENE
Human Proteome Map SHARPIN Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot
  RBCK1/SHARPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sharpin_PH UniProtKB/Swiss-Prot
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RanBP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RanBP2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:81858 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 81858 ENTREZGENE
OMIM 611885 OMIM
PANTHER PTHR22770:SF43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sharpin_PH UniProtKB/Swiss-Prot
  zf-RanBP UniProtKB/TrEMBL
PharmGKB PA142670925 PharmGKB
PROSITE ZF_RANBP2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RANBP2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_RBZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90209 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H0YCU2_HUMAN UniProtKB/TrEMBL
  Q6PJD5 ENTREZGENE, UniProtKB/TrEMBL
  Q9H0F6 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NEG3 UniProtKB/Swiss-Prot
  C0L3L2 UniProtKB/Swiss-Prot
  D3DWL3 UniProtKB/Swiss-Prot
  Q8IXF5 UniProtKB/Swiss-Prot
  Q8IXF6 UniProtKB/Swiss-Prot
  Q8N2E7 UniProtKB/Swiss-Prot
  Q8TB25 UniProtKB/Swiss-Prot
  Q9BUE4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 SHARPIN  SHANK associated RH domain interactor    SHANK-associated RH domain interactor  Symbol and/or name change 5135510 APPROVED