ZP4 (zona pellucida glycoprotein 4) - Rat Genome Database

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Gene: ZP4 (zona pellucida glycoprotein 4) Homo sapiens
Analyze
Symbol: ZP4
Name: zona pellucida glycoprotein 4
RGD ID: 1345250
HGNC Page HGNC
Description: Exhibits acrosin binding activity and identical protein binding activity. Involved in several processes, including acrosomal vesicle exocytosis; negative regulation of binding activity of sperm to zona pellucida; and positive regulation of acrosome reaction. Localizes to egg coat.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ZBP; zona pellucida B protein; zona pellucida protein B; zona pellucida sperm-binding protein 4; Zp-4; ZP1; ZPB
RGD Orthologs
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 Ensembl1237,877,864 - 237,890,922 (-)EnsemblGRCh38hg38GRCh38
GRCh381237,882,404 - 237,890,922 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371238,045,704 - 238,054,222 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361236,112,333 - 236,120,558 (-)NCBINCBI36hg18NCBI36
Build 341234,371,750 - 234,379,976NCBI
Celera1211,290,655 - 211,303,716 (-)NCBI
Cytogenetic Map1q43NCBI
HuRef1208,497,545 - 208,510,618 (-)NCBIHuRef
CHM1_11239,313,463 - 239,326,514 (-)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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7841460   PMID:10864856   PMID:11053263   PMID:11291774   PMID:11804956   PMID:11854410   PMID:11940668   PMID:12477932   PMID:15142998   PMID:15489334   PMID:15805145   PMID:15950651  
PMID:16407501   PMID:16710414   PMID:17554300   PMID:18029348   PMID:18667750   PMID:19004505   PMID:19625618   PMID:19626040   PMID:20379614   PMID:20394732   PMID:20708005   PMID:21173071  
PMID:23355646   PMID:25740067   PMID:26329136   PMID:26879157   PMID:29895852   PMID:30298508   PMID:32569527  


Genomics

Comparative Map Data
ZP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1237,877,864 - 237,890,922 (-)EnsemblGRCh38hg38GRCh38
GRCh381237,882,404 - 237,890,922 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371238,045,704 - 238,054,222 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361236,112,333 - 236,120,558 (-)NCBINCBI36hg18NCBI36
Build 341234,371,750 - 234,379,976NCBI
Celera1211,290,655 - 211,303,716 (-)NCBI
Cytogenetic Map1q43NCBI
HuRef1208,497,545 - 208,510,618 (-)NCBIHuRef
CHM1_11239,313,463 - 239,326,514 (-)NCBICHM1_1
Zp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21759,005,649 - 59,012,202 (-)NCBI
Rnor_6.0 Ensembl1765,497,359 - 65,503,912 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01765,497,359 - 65,503,912 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01767,248,685 - 67,255,238 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41769,576,957 - 69,583,510 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11769,587,789 - 69,594,343 (-)NCBI
Celera1761,538,443 - 61,544,996 (+)NCBICelera
Cytogenetic Map17q12.1NCBI
Zp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554922,599,579 - 2,606,837 (+)NCBIChiLan1.0ChiLan1.0
ZP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11218,433,473 - 218,442,383 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1218,428,967 - 218,442,383 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01213,435,888 - 213,444,439 (-)NCBIMhudiblu_PPA_v0panPan3
ZP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.142,324,657 - 2,332,357 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl42,324,226 - 2,331,470 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha42,372,257 - 2,380,393 (+)NCBI
ROS_Cfam_1.042,343,415 - 2,351,490 (+)NCBI
UMICH_Zoey_3.142,339,106 - 2,347,238 (+)NCBI
UNSW_CanFamBas_1.042,475,022 - 2,483,157 (+)NCBI
UU_Cfam_GSD_1.042,696,097 - 2,704,236 (+)NCBI
Zp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934439,205,217 - 39,211,353 (+)NCBI
SpeTri2.0NW_00493648415,370,443 - 15,376,564 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1453,577,135 - 53,584,546 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11453,577,138 - 53,584,544 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21457,496,103 - 57,503,521 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12575,002,053 - 75,010,764 (-)NCBI
ChlSab1.1 Ensembl2575,002,344 - 75,010,323 (-)Ensembl
Vero_WHO_p1.0NW_02366605577,101,795 - 77,109,779 (-)NCBI
Zp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477512,903,145 - 12,910,048 (+)NCBI

Position Markers
SHGC-76577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371238,051,878 - 238,052,027UniSTSGRCh37
Build 361236,118,501 - 236,118,650RGDNCBI36
Celera1211,301,372 - 211,301,521RGD
Cytogenetic Map1q43UniSTS
HuRef1208,508,274 - 208,508,423UniSTS
TNG Radiation Hybrid Map1120179.0UniSTS
GeneMap99-GB4 RH Map1742.82UniSTS
NCBI RH Map12023.7UniSTS
SHGC-76534  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q43UniSTS
TNG Radiation Hybrid Map1120182.0UniSTS
GeneMap99-GB4 RH Map1740.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:84
Count of miRNA genes:82
Interacting mature miRNAs:84
Transcripts:ENST00000366570
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 adipose tissue appendage entire extraembryonic component
High
Medium 3 2 3 1
Low 5 2 2 10 2 12 3 3 1 21 3
Below cutoff 98 119 52 32 156 9 172 98 157 20 275 61 26 35 91 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000366570   ⟹   ENSP00000355529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1237,882,405 - 237,890,794 (-)Ensembl
RefSeq Acc Id: ENST00000611898   ⟹   ENSP00000482304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1237,877,864 - 237,890,922 (-)Ensembl
RefSeq Acc Id: NM_021186   ⟹   NP_067009
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381237,882,404 - 237,890,922 (-)NCBI
GRCh371238,041,164 - 238,054,222 (-)ENTREZGENE
Build 361236,112,333 - 236,120,558 (-)NCBI Archive
HuRef1208,497,545 - 208,510,618 (-)ENTREZGENE
CHM1_11239,313,463 - 239,326,514 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_067009 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA74391 (Get FASTA)   NCBI Sequence Viewer  
  AAH69521 (Get FASTA)   NCBI Sequence Viewer  
  BAG36838 (Get FASTA)   NCBI Sequence Viewer  
  EAW70072 (Get FASTA)   NCBI Sequence Viewer  
  Q12836 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_067009   ⟸   NM_021186
- Peptide Label: preproprotein
- UniProtKB: Q12836 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000482304   ⟸   ENST00000611898
RefSeq Acc Id: ENSP00000355529   ⟸   ENST00000366570
Protein Domains
P-type   ZP


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43(chr1:237255048-239452455)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051885]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051885]|See cases [RCV000051885] Chr1:237255048..239452455 [GRCh38]
Chr1:237418348..239615755 [GRCh37]
Chr1:235484971..237682378 [NCBI36]
Chr1:1q43
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q42.2-43(chr1:233486559-239971543)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053986]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053986]|See cases [RCV000053986] Chr1:233486559..239971543 [GRCh38]
Chr1:233622305..240134843 [GRCh37]
Chr1:231688928..238201466 [NCBI36]
Chr1:1q42.2-43
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
NM_021186.3(ZP4):c.1444A>C (p.Lys482Gln) single nucleotide variant Malignant melanoma [RCV000060114] Chr1:237882793 [GRCh38]
Chr1:238046093 [GRCh37]
Chr1:236112716 [NCBI36]
Chr1:1q43
not provided
NM_021186.4(ZP4):c.214G>A (p.Asp72Asn) single nucleotide variant Malignant tumor of prostate [RCV000149283] Chr1:237890138 [GRCh38]
Chr1:238053438 [GRCh37]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:237322513-240310271)x1 copy number loss See cases [RCV000137510] Chr1:237322513..240310271 [GRCh38]
Chr1:237485813..240473571 [GRCh37]
Chr1:235552436..238540194 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q42.2-43(chr1:234546246-238716872) copy number loss not provided [RCV000767542] Chr1:234546246..238716872 [GRCh37]
Chr1:1q42.2-43
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43(chr1:237764484-238849083)x3 copy number gain See cases [RCV000449000] Chr1:237764484..238849083 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)x1 copy number loss See cases [RCV000447936] Chr1:232226609..241010904 [GRCh37]
Chr1:1q42.2-43
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q42.2-43(chr1:234605553-240932205)x1 copy number loss See cases [RCV000510599] Chr1:234605553..240932205 [GRCh37]
Chr1:1q42.2-43
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1q43(chr1:237672980-240999398)x1 copy number loss See cases [RCV000512307] Chr1:237672980..240999398 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
Single allele deletion Hereditary leiomyomatosis and renal cell cancer [RCV000850150] Chr1:237244834..242310908 [GRCh37]
Chr1:1q43
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43(chr1:237570457-238427885)x3 copy number gain not provided [RCV000749406] Chr1:237570457..238427885 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q43(chr1:238017237-238099090)x3 copy number gain not provided [RCV000749408] Chr1:238017237..238099090 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q42.3-43(chr1:234742890-239475761) copy number loss not provided [RCV000767541] Chr1:234742890..239475761 [GRCh37]
Chr1:1q42.3-43
pathogenic
NM_021186.4(ZP4):c.801T>C (p.Asn267=) single nucleotide variant not provided [RCV000924655] Chr1:237886809 [GRCh38]
Chr1:238050109 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 copy number gain not provided [RCV001005187] Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43
pathogenic
NM_021186.4(ZP4):c.1481C>T (p.Pro494Leu) single nucleotide variant not provided [RCV000953018] Chr1:237882756 [GRCh38]
Chr1:238046056 [GRCh37]
Chr1:1q43
benign
NM_021186.4(ZP4):c.883C>T (p.Pro295Ser) single nucleotide variant not provided [RCV000953019] Chr1:237885843 [GRCh38]
Chr1:238049143 [GRCh37]
Chr1:1q43
benign
NM_021186.4(ZP4):c.1511C>T (p.Ser504Leu) single nucleotide variant not provided [RCV000974900] Chr1:237882534 [GRCh38]
Chr1:238045834 [GRCh37]
Chr1:1q43
benign
NM_021186.4(ZP4):c.341C>T (p.Ala114Val) single nucleotide variant not provided [RCV000953234] Chr1:237889926 [GRCh38]
Chr1:238053226 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15770 AgrOrtholog
COSMIC ZP4 COSMIC
Ensembl Genes ENSG00000116996 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000355529 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482304 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366570 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000611898 UniProtKB/Swiss-Prot
GTEx ENSG00000116996 GTEx
HGNC ID HGNC:15770 ENTREZGENE
Human Proteome Map ZP4 Human Proteome Map
InterPro P_trefoil_CS UniProtKB/Swiss-Prot
  P_trefoil_dom UniProtKB/Swiss-Prot
  ZP_dom UniProtKB/Swiss-Prot
  ZP_dom_CS UniProtKB/Swiss-Prot
KEGG Report hsa:57829 UniProtKB/Swiss-Prot
NCBI Gene 57829 ENTREZGENE
OMIM 613514 OMIM
Pfam Trefoil UniProtKB/Swiss-Prot
  Zona_pellucida UniProtKB/Swiss-Prot
PharmGKB PA38036 PharmGKB
PRINTS ZPELLUCIDA UniProtKB/Swiss-Prot
PROSITE P_TREFOIL_1 UniProtKB/Swiss-Prot
  P_TREFOIL_2 UniProtKB/Swiss-Prot
  ZP_1 UniProtKB/Swiss-Prot
  ZP_2 UniProtKB/Swiss-Prot
SMART SM00018 UniProtKB/Swiss-Prot
  SM00241 UniProtKB/Swiss-Prot
UniProt Q12836 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RAE1 UniProtKB/Swiss-Prot