ZWILCH (zwilch kinetochore protein) - Rat Genome Database

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Gene: ZWILCH (zwilch kinetochore protein) Homo sapiens
Analyze
Symbol: ZWILCH
Name: zwilch kinetochore protein
RGD ID: 1602882
HGNC Page HGNC
Description: Involved in protein localization to kinetochore. Located in kinetochore. Part of RZZ complex; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ10036; FLJ16343; homolog of Drosophila Zwilch; hZwilch; KNTC1AP; MGC111034; protein zwilch homolog; Zwilch, kinetochore associated, homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1566,504,959 - 66,550,130 (+)EnsemblGRCh38hg38GRCh38
GRCh381566,505,126 - 66,550,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371566,797,664 - 66,842,468 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361564,584,485 - 64,628,877 (+)NCBINCBI36hg18NCBI36
Celera1543,686,777 - 43,729,897 (+)NCBI
Cytogenetic Map15q22.31NCBI
HuRef1543,633,568 - 43,677,018 (+)NCBIHuRef
CHM1_11566,915,437 - 66,959,818 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)
kinetochore  (IDA)
RZZ complex  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Colon cancer  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12686595   PMID:14702039   PMID:15824131   PMID:19008095   PMID:20360068   PMID:20462495   PMID:20800603   PMID:21873635   PMID:22939629   PMID:25363768   PMID:26344197  
PMID:26496610   PMID:28514442   PMID:28712289   PMID:28986522   PMID:31091453  


Genomics

Comparative Map Data
ZWILCH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1566,504,959 - 66,550,130 (+)EnsemblGRCh38hg38GRCh38
GRCh381566,505,126 - 66,550,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371566,797,664 - 66,842,468 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361564,584,485 - 64,628,877 (+)NCBINCBI36hg18NCBI36
Celera1543,686,777 - 43,729,897 (+)NCBI
Cytogenetic Map15q22.31NCBI
HuRef1543,633,568 - 43,677,018 (+)NCBIHuRef
CHM1_11566,915,437 - 66,959,818 (+)NCBICHM1_1
Zwilch
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39964,044,426 - 64,080,213 (-)NCBIGRCm39mm39
GRCm39 Ensembl964,044,426 - 64,080,386 (-)Ensembl
GRCm38964,137,144 - 64,173,104 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl964,137,144 - 64,173,104 (-)EnsemblGRCm38mm10GRCm38
MGSCv37963,984,951 - 64,020,738 (-)NCBIGRCm37mm9NCBIm37
MGSCv36963,935,152 - 63,970,937 (-)NCBImm8
Celera961,362,577 - 61,398,224 (-)NCBICelera
Cytogenetic Map9CNCBI
Zwilch
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2864,638,401 - 64,670,911 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl864,637,672 - 64,675,916 (-)Ensembl
Rnor_6.0869,089,449 - 69,121,420 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl869,091,955 - 69,121,192 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0868,795,665 - 68,827,635 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4868,334,038 - 68,366,291 (-)NCBIRGSC3.4rn4RGSC3.4
Celera864,045,341 - 64,068,910 (-)NCBICelera
Cytogenetic Map8q24NCBI
Zwilch
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554509,139,169 - 9,169,921 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554509,139,214 - 9,170,136 (-)NCBIChiLan1.0ChiLan1.0
ZWILCH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11563,727,562 - 63,771,224 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1563,727,562 - 63,771,213 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01545,452,382 - 45,496,780 (+)NCBIMhudiblu_PPA_v0panPan3
ZWILCH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13030,772,219 - 30,811,055 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3030,772,057 - 30,809,040 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3030,702,318 - 30,740,429 (+)NCBI
ROS_Cfam_1.03030,968,807 - 31,006,965 (+)NCBI
UMICH_Zoey_3.13030,898,255 - 30,936,387 (+)NCBI
UNSW_CanFamBas_1.03030,957,830 - 30,994,223 (+)NCBI
UU_Cfam_GSD_1.03031,199,258 - 31,237,396 (+)NCBI
Zwilch
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640108,794,141 - 108,829,732 (+)NCBI
SpeTri2.0NW_00493647126,642,321 - 26,674,475 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZWILCH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1164,481,785 - 164,527,256 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11164,481,784 - 164,526,843 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21182,231,876 - 182,271,644 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZWILCH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12617,000,373 - 17,045,980 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2617,000,148 - 17,045,804 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666048124,404,846 - 124,450,586 (+)NCBIVero_WHO_p1.0
Zwilch
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247816,168,482 - 6,209,581 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH15756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371566,841,535 - 66,841,683UniSTSGRCh37
Build 361564,628,589 - 64,628,737RGDNCBI36
Celera1543,729,609 - 43,729,757RGD
Cytogenetic Map15q22.31UniSTS
HuRef1543,676,730 - 43,676,878UniSTS
GeneMap99-GB4 RH Map15231.16UniSTS
NCBI RH Map15336.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1962
Count of miRNA genes:883
Interacting mature miRNAs:1012
Transcripts:ENST00000307897, ENST00000446801, ENST00000535141, ENST00000561583, ENST00000562645, ENST00000563698, ENST00000564179, ENST00000564309, ENST00000565627, ENST00000565960, ENST00000567816, ENST00000567926, ENST00000569489
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 187 14 72 60 716 64 292 57 131 95 645 293 9 2 6 3
Low 2250 2610 1649 560 993 398 4064 2027 3442 322 811 1319 166 1 1201 2782 2 1
Below cutoff 364 5 3 241 3 113 155 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001287821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC116913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ775697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000307897   ⟹   ENSP00000311429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,505,326 - 66,550,130 (+)Ensembl
RefSeq Acc Id: ENST00000446801   ⟹   ENSP00000402217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,505,117 - 66,549,487 (+)Ensembl
RefSeq Acc Id: ENST00000535141   ⟹   ENSP00000437749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,504,959 - 66,548,426 (+)Ensembl
RefSeq Acc Id: ENST00000561583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,520,508 - 66,528,933 (+)Ensembl
RefSeq Acc Id: ENST00000562645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,523,511 - 66,528,909 (+)Ensembl
RefSeq Acc Id: ENST00000563698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,505,295 - 66,519,082 (+)Ensembl
RefSeq Acc Id: ENST00000564179   ⟹   ENSP00000456689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,505,300 - 66,520,664 (+)Ensembl
RefSeq Acc Id: ENST00000564309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,505,300 - 66,514,522 (+)Ensembl
RefSeq Acc Id: ENST00000565627   ⟹   ENSP00000454737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,505,295 - 66,546,705 (+)Ensembl
RefSeq Acc Id: ENST00000565960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,505,326 - 66,520,657 (+)Ensembl
RefSeq Acc Id: ENST00000567816   ⟹   ENSP00000455548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,537,169 - 66,547,292 (+)Ensembl
RefSeq Acc Id: ENST00000567926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,505,300 - 66,519,129 (+)Ensembl
RefSeq Acc Id: ENST00000569489   ⟹   ENSP00000455336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,540,153 - 66,546,887 (+)Ensembl
RefSeq Acc Id: ENST00000613446   ⟹   ENSP00000477955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1566,505,083 - 66,549,474 (+)Ensembl
RefSeq Acc Id: NM_001287821   ⟹   NP_001274750
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,505,326 - 66,550,130 (+)NCBI
HuRef1543,633,558 - 43,677,018 (+)NCBI
CHM1_11566,915,427 - 66,959,818 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287822   ⟹   NP_001274751
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,505,326 - 66,550,130 (+)NCBI
HuRef1543,633,558 - 43,677,018 (+)NCBI
CHM1_11566,915,427 - 66,959,818 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287823   ⟹   NP_001274752
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,505,326 - 66,550,130 (+)NCBI
HuRef1543,633,558 - 43,677,018 (+)NCBI
CHM1_11566,915,427 - 66,959,818 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017975   ⟹   NP_060445
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,505,326 - 66,550,130 (+)NCBI
GRCh371566,797,431 - 66,841,823 (+)RGD
Build 361564,584,485 - 64,628,877 (+)NCBI Archive
Celera1543,686,777 - 43,729,897 (+)RGD
HuRef1543,633,558 - 43,677,018 (+)NCBI
CHM1_11566,915,427 - 66,959,818 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001751344
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,505,131 - 66,549,485 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001751345
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,505,126 - 66,549,485 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060445   ⟸   NM_017975
- Peptide Label: isoform 1
- UniProtKB: Q9H900 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274750   ⟸   NM_001287821
- Peptide Label: isoform 2
- UniProtKB: Q9H900 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274751   ⟸   NM_001287822
- Peptide Label: isoform 2
- UniProtKB: Q9H900 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274752   ⟸   NM_001287823
- Peptide Label: isoform 2
- UniProtKB: Q9H900 (UniProtKB/Swiss-Prot),   A8K4T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000455336   ⟸   ENST00000569489
RefSeq Acc Id: ENSP00000311429   ⟸   ENST00000307897
RefSeq Acc Id: ENSP00000477955   ⟸   ENST00000613446
RefSeq Acc Id: ENSP00000437749   ⟸   ENST00000535141
RefSeq Acc Id: ENSP00000402217   ⟸   ENST00000446801
RefSeq Acc Id: ENSP00000456689   ⟸   ENST00000564179
RefSeq Acc Id: ENSP00000454737   ⟸   ENST00000565627
RefSeq Acc Id: ENSP00000455548   ⟸   ENST00000567816

Promoters
RGD ID:6792559
Promoter ID:HG_KWN:21716
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:NR_003105,   OTTHUMT00000256903,   OTTHUMT00000256904,   UC002APW.1,   UC010BHR.1,   UC010BHU.1,   UC010BHV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361564,584,056 - 64,584,807 (-)MPROMDB
RGD ID:7229875
Promoter ID:EPDNEW_H20683
Type:initiation region
Name:ZWILCH_2
Description:zwilch kinetochore protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20684  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,505,135 - 66,505,195EPDNEW
RGD ID:7229877
Promoter ID:EPDNEW_H20684
Type:initiation region
Name:ZWILCH_1
Description:zwilch kinetochore protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20683  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,505,326 - 66,505,386EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_017975.5(ZWILCH):c.1688-7A>G single nucleotide variant not provided [RCV000959144] Chr15:66546584 [GRCh38]
Chr15:66838922 [GRCh37]
Chr15:15q22.31
benign
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490) copy number loss Aortic valve disease 1 [RCV000770951] Chr15:66825594..67400490 [GRCh37]
Chr15:15q22.31-22.33
pathogenic
NM_017975.5(ZWILCH):c.592-9T>G single nucleotide variant not provided [RCV000950798] Chr15:66521041 [GRCh38]
Chr15:66813379 [GRCh37]
Chr15:15q22.31
benign
NM_017975.5(ZWILCH):c.49C>T (p.Leu17Phe) single nucleotide variant not provided [RCV000967369] Chr15:66505387 [GRCh38]
Chr15:66797725 [GRCh37]
Chr15:15q22.31
benign
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25468 AgrOrtholog
COSMIC ZWILCH COSMIC
Ensembl Genes ENSG00000174442 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000311429 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402217 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437749 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454737 UniProtKB/Swiss-Prot
  ENSP00000455336 UniProtKB/TrEMBL
  ENSP00000455548 UniProtKB/TrEMBL
  ENSP00000456689 UniProtKB/TrEMBL
  ENSP00000477955 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000307897 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000446801 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000535141 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000564179 UniProtKB/TrEMBL
  ENST00000565627 UniProtKB/Swiss-Prot
  ENST00000567816 UniProtKB/TrEMBL
  ENST00000569489 UniProtKB/TrEMBL
  ENST00000613446 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000174442 GTEx
HGNC ID HGNC:25468 ENTREZGENE
Human Proteome Map ZWILCH Human Proteome Map
InterPro Zwilch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55055 UniProtKB/Swiss-Prot
NCBI Gene 55055 ENTREZGENE
OMIM 609984 OMIM
PANTHER PTHR15995 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Zwilch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670465 PharmGKB
UniProt A8K4T3 ENTREZGENE, UniProtKB/TrEMBL
  H3BPI7_HUMAN UniProtKB/TrEMBL
  H3BQ07_HUMAN UniProtKB/TrEMBL
  H3BSG1_HUMAN UniProtKB/TrEMBL
  Q9H900 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KVB8 UniProtKB/Swiss-Prot
  Q6N049 UniProtKB/Swiss-Prot
  Q8N404 UniProtKB/Swiss-Prot
  Q96SY7 UniProtKB/Swiss-Prot
  Q9NWG7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-01-02 ZWILCH  zwilch kinetochore protein    Zwilch, kinetochore associated, homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED