PIGZ (phosphatidylinositol glycan anchor biosynthesis class Z) - Rat Genome Database

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Gene: PIGZ (phosphatidylinositol glycan anchor biosynthesis class Z) Homo sapiens
Analyze
Symbol: PIGZ
Name: phosphatidylinositol glycan anchor biosynthesis class Z
RGD ID: 1602097
HGNC Page HGNC:30596
Description: Enables alpha-1,2-mannosyltransferase activity. Involved in GPI anchor biosynthetic process. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dol-P-Man dependent GPI mannosyltransferase; FLJ12768; GPI mannosyltransferase 4; GPI mannosyltransferase IV; GPI-MT-IV; hSMP3; MGC52163; phosphatidylinositol glycan anchor biosynthesis, class Z; phosphatidylinositol glycan, class Z; phosphatidylinositol-glycan biosynthesis class Z protein; PIG-Z; SMP3; SMP3 homolog; SMP3 mannosyltransferase
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
GRCh383196,946,356 - 196,968,833 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,946,356 - 196,969,060 (-)EnsemblGRCh38hg38GRCh38
GRCh373196,673,227 - 196,695,704 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363198,157,611 - 198,180,101 (-)NCBINCBI36Build 36hg18NCBI36
Celera3195,259,832 - 195,282,326 (-)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3193,973,362 - 193,995,816 (-)NCBIHuRef
CHM1_13196,644,550 - 196,666,991 (-)NCBICHM1_1
T2T-CHM13v2.03199,672,412 - 199,695,067 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11356840   PMID:12200473   PMID:12477932   PMID:12655644   PMID:14702039   PMID:15208306   PMID:15489334   PMID:16344560   PMID:21873635   PMID:32393512   PMID:33961781  


Genomics

Comparative Map Data
PIGZ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383196,946,356 - 196,968,833 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,946,356 - 196,969,060 (-)EnsemblGRCh38hg38GRCh38
GRCh373196,673,227 - 196,695,704 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363198,157,611 - 198,180,101 (-)NCBINCBI36Build 36hg18NCBI36
Celera3195,259,832 - 195,282,326 (-)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3193,973,362 - 193,995,816 (-)NCBIHuRef
CHM1_13196,644,550 - 196,666,991 (-)NCBICHM1_1
T2T-CHM13v2.03199,672,412 - 199,695,067 (-)NCBIT2T-CHM13v2.0
Pigz
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391631,745,797 - 31,764,866 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1631,752,669 - 31,764,864 (+)EnsemblGRCm39 Ensembl
GRCm381631,926,965 - 31,946,048 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1631,933,851 - 31,946,046 (+)EnsemblGRCm38mm10GRCm38
MGSCv371631,933,937 - 31,946,132 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361631,853,701 - 31,865,793 (+)NCBIMGSCv36mm8
Celera1632,427,718 - 32,439,857 (+)NCBICelera
Cytogenetic Map16B2NCBI
cM Map1622.4NCBI
Pigz
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81182,336,821 - 82,357,743 (-)NCBIGRCr8
mRatBN7.21168,831,847 - 68,851,798 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx1177,668,905 - 77,688,856 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01170,331,513 - 70,345,298 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01169,357,988 - 69,377,946 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01172,930,040 - 72,936,002 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1172,931,297 - 72,934,823 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1172,083,217 - 72,086,743 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01176,002,848 - 76,008,397 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41170,653,993 - 70,673,626 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11170,711,581 - 70,715,118 (-)NCBI
Celera1168,253,260 - 68,274,819 (-)NCBICelera
Cytogenetic Map11q22NCBI
Pigz
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542012,994,892 - 13,003,170 (-)NCBIChiLan1.0ChiLan1.0
PIGZ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22194,813,942 - 194,838,258 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13194,816,011 - 194,843,005 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03194,288,192 - 194,312,501 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13204,225,190 - 204,230,819 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3204,225,190 - 204,244,863 (-)Ensemblpanpan1.1panPan2
PIGZ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13329,945,980 - 29,965,906 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3329,969,832 - 29,987,136 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03330,193,980 - 30,211,253 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13329,988,325 - 30,005,607 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03330,024,217 - 30,043,112 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03330,646,533 - 30,663,810 (-)NCBIUU_Cfam_GSD_1.0
Pigz
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602143,019,285 - 143,035,787 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936833902,002 - 918,321 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIGZ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.113133,157,168 - 133,191,786 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213142,881,938 - 142,908,610 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PIGZ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11590,284,834 - 90,303,871 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1590,297,389 - 90,303,863 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604164,060,377 - 64,080,245 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pigz
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473061,933,431 - 61,937,413 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473061,933,493 - 61,956,516 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIGZ
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000050878] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197503306)x3 copy number gain See cases [RCV000051013] Chr3:196013486..197503306 [GRCh38]
Chr3:195740357..197230177 [GRCh37]
Chr3:197224754..198714574 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q29(chr3:196077857-197165715)x1 copy number loss See cases [RCV000051202] Chr3:196077857..197165715 [GRCh38]
Chr3:195804728..196892586 [GRCh37]
Chr3:197289125..198376983 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 copy number gain See cases [RCV000051740] Chr3:190667663..198110178 [GRCh38]
Chr3:190385452..197837049 [GRCh37]
Chr3:191868146..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q29(chr3:193917490-198110319)x3 copy number gain See cases [RCV000051741] Chr3:193917490..198110319 [GRCh38]
Chr3:193635279..197837190 [GRCh37]
Chr3:195117973..199321587 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:194424496-198168758)x3 copy number gain See cases [RCV000051742] Chr3:194424496..198168758 [GRCh38]
Chr3:194145225..197895629 [GRCh37]
Chr3:195626514..199380026 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197658540)x1 copy number loss See cases [RCV000053114] Chr3:196035777..197658540 [GRCh38]
Chr3:195762648..197385411 [GRCh37]
Chr3:197247045..198869808 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197625573)x1 copy number loss See cases [RCV000053115] Chr3:196035777..197625573 [GRCh38]
Chr3:195762648..197352444 [GRCh37]
Chr3:197247045..198836841 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195896948-198110178)x3 copy number gain See cases [RCV000053541] Chr3:195896948..198110178 [GRCh38]
Chr3:195623819..197837049 [GRCh37]
Chr3:197108216..199321446 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195711798-197976152)x3 copy number gain See cases [RCV000053540] Chr3:195711798..197976152 [GRCh38]
Chr3:195438669..197703023 [GRCh37]
Chr3:196924340..199187420 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:196077857-197693741)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|See cases [RCV000053125] Chr3:196077857..197693741 [GRCh38]
Chr3:195804728..197420612 [GRCh37]
Chr3:197289125..198905009 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196280954-197590232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|See cases [RCV000053126] Chr3:196280954..197590232 [GRCh38]
Chr3:196007825..197317103 [GRCh37]
Chr3:197492222..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195755702-197583580)x3 copy number gain See cases [RCV000053853] Chr3:195755702..197583580 [GRCh38]
Chr3:195482573..197310451 [GRCh37]
Chr3:196968244..198794848 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195965316-197625573)x3 copy number gain See cases [RCV000053854] Chr3:195965316..197625573 [GRCh38]
Chr3:195692187..197352444 [GRCh37]
Chr3:197176584..198836841 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195972720-197658495)x3 copy number gain See cases [RCV000053855] Chr3:195972720..197658495 [GRCh38]
Chr3:195699591..197385366 [GRCh37]
Chr3:197183988..198869763 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195997494-197662231)x3 copy number gain See cases [RCV000053856] Chr3:195997494..197662231 [GRCh38]
Chr3:195724365..197389102 [GRCh37]
Chr3:197208762..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197606438)x3 copy number gain See cases [RCV000053857] Chr3:196035777..197606438 [GRCh38]
Chr3:195762648..197333309 [GRCh37]
Chr3:197247045..198817706 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197662231)x3 copy number gain See cases [RCV000053858] Chr3:196035777..197662231 [GRCh38]
Chr3:195762648..197389102 [GRCh37]
Chr3:197247045..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
NM_001042540.1(NCBP2):c.-271G>A single nucleotide variant Malignant melanoma [RCV000065996] Chr3:196942774 [GRCh38]
Chr3:196669645 [GRCh37]
Chr3:198154042 [NCBI36]
Chr3:3q29		 not provided
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q29(chr3:194338534-197693741)x1 copy number loss See cases [RCV000136517] Chr3:194338534..197693741 [GRCh38]
Chr3:194059263..197420612 [GRCh37]
Chr3:195540958..198905009 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:195711798-198110178)x3 copy number gain See cases [RCV000137110] Chr3:195711798..198110178 [GRCh38]
Chr3:195438669..197837049 [GRCh37]
Chr3:196924340..199321446 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195974291-197597912)x1 copy number loss See cases [RCV000137696] Chr3:195974291..197597912 [GRCh38]
Chr3:195701162..197324783 [GRCh37]
Chr3:197185559..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:192752937-198118383)x3 copy number gain See cases [RCV000137827] Chr3:192752937..198118383 [GRCh38]
Chr3:192470726..197845254 [GRCh37]
Chr3:193953420..199329651 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q29(chr3:195955711-197597912)x1 copy number loss See cases [RCV000138878] Chr3:195955711..197597912 [GRCh38]
Chr3:195682582..197324783 [GRCh37]
Chr3:197166979..198809180 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013531-197590232)x1 copy number loss See cases [RCV000138573] Chr3:196013531..197590232 [GRCh38]
Chr3:195740402..197317103 [GRCh37]
Chr3:197224799..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:196812829-197938552)x3 copy number gain See cases [RCV000138900] Chr3:196812829..197938552 [GRCh38]
Chr3:196539700..197665423 [GRCh37]
Chr3:198024097..199149820 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:196832991-197182319)x3 copy number gain See cases [RCV000141425] Chr3:196832991..197182319 [GRCh38]
Chr3:196559862..196909190 [GRCh37]
Chr3:198044259..198393587 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:196841258-197590173)x3 copy number gain See cases [RCV000141426] Chr3:196841258..197590173 [GRCh38]
Chr3:196568129..197317044 [GRCh37]
Chr3:198052526..198801441 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197612399)x1 copy number loss See cases [RCV000141008] Chr3:196013486..197612399 [GRCh38]
Chr3:195740357..197339270 [GRCh37]
Chr3:197224754..198823667 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196418334-198125115)x3 copy number gain See cases [RCV000141811] Chr3:196418334..198125115 [GRCh38]
Chr3:196145205..197851986 [GRCh37]
Chr3:197629602..199336383 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195998419-197629463)x3 copy number gain See cases [RCV000141750] Chr3:195998419..197629463 [GRCh38]
Chr3:195725290..197356334 [GRCh37]
Chr3:197209687..198840731 [NCBI36]
Chr3:3q29		 conflicting data from submitters
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:195976744-197629463)x1 copy number loss See cases [RCV000142155] Chr3:195976744..197629463 [GRCh38]
Chr3:195703615..197356334 [GRCh37]
Chr3:197188012..198840731 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197597912)x1 copy number loss See cases [RCV000143053] Chr3:196013486..197597912 [GRCh38]
Chr3:195740357..197324783 [GRCh37]
Chr3:197224754..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:193704605-198125115)x3 copy number gain See cases [RCV000143501] Chr3:193704605..198125115 [GRCh38]
Chr3:193422394..197851986 [GRCh37]
Chr3:194905088..199336383 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000148130] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195690241-197299811)x1 copy number loss See cases [RCV000240193] Chr3:195690241..197299811 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195756054-197344665)x1 copy number loss Chromosome 3q29 microdeletion syndrome [RCV000258006] Chr3:195756054..197344665 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195780280-197299752)x1 copy number loss See cases [RCV000449089] Chr3:195780280..197299752 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195739427-197356334)x3 copy number gain See cases [RCV000449371] Chr3:195739427..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000446216] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000449002] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196663447-196678885)x3 copy number gain See cases [RCV000448332] Chr3:196663447..196678885 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195677309-197356334)x3 copy number gain See cases [RCV000512079] Chr3:195677309..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000511943] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000510774] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
NM_025163.4(PIGZ):c.1276C>G (p.Leu426Val) single nucleotide variant Inborn genetic diseases [RCV003253709] Chr3:196947621 [GRCh38]
Chr3:196674492 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_025163.4(PIGZ):c.1055G>A (p.Gly352Asp) single nucleotide variant Inborn genetic diseases [RCV003240063] Chr3:196947842 [GRCh38]
Chr3:196674713 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195456034-197356334)x3 copy number gain See cases [RCV000512582] Chr3:195456034..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3 copy number gain not provided [RCV000682346] Chr3:191593619..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197348575)x1 copy number loss not provided [RCV000682353] Chr3:195703615..197348575 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197356334)x3 copy number gain not provided [RCV000682354] Chr3:195703615..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197015654)x1 copy number loss not provided [RCV000682355] Chr3:195725290..197015654 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197339848)x3 copy number gain not provided [RCV000682356] Chr3:195725290..197339848 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x3 copy number gain not provided [RCV000682357] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196586363-196952733)x3 copy number gain not provided [RCV000682359] Chr3:196586363..196952733 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
Single allele duplication Autism [RCV000754277] Chr3:195939900..197632041 [GRCh38]
Chr3:3q29		 likely pathogenic
NC_000003.12:g.(?_195990063)_(197617301_?)del deletion Schizophrenia [RCV000754278] Chr3:195990063..197617301 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195652973-197346971)x1 copy number loss See cases [RCV001007436] Chr3:195652973..197346971 [GRCh37]
Chr3:3q29		 pathogenic
NM_025163.4(PIGZ):c.239G>A (p.Arg80Gln) single nucleotide variant Inborn genetic diseases [RCV003243922] Chr3:196948658 [GRCh38]
Chr3:196675529 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195701149-197348561)x3 copy number gain not provided [RCV000846762] Chr3:195701149..197348561 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195700698-197386180)x3 copy number gain not provided [RCV000846898] Chr3:195700698..197386180 [GRCh37]
Chr3:3q29		 pathogenic
NM_025163.4(PIGZ):c.1442C>T (p.Pro481Leu) single nucleotide variant Inborn genetic diseases [RCV003273909] Chr3:196947455 [GRCh38]
Chr3:196674326 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:196381502-196771786)x3 copy number gain not provided [RCV001249434] Chr3:196381502..196771786 [GRCh37]
Chr3:3q29		 not provided
GRCh37/hg19 3q29(chr3:196592131-196919105)x3 copy number gain not provided [RCV001005504] Chr3:196592131..196919105 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195068028-197851986)x3 copy number gain not provided [RCV001259831] Chr3:195068028..197851986 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196552734-197498996)x3 copy number gain not provided [RCV001259833] Chr3:196552734..197498996 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195419168-197387258) copy number gain Atypical behavior [RCV001291957] Chr3:195419168..197387258 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 copy number loss 3q28q29 deletion syndrome [RCV001786535] Chr3:189608636..197532175 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195747856-197387258) copy number gain Motor delay [RCV001291947] Chr3:195747856..197387258 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195693872-197376871)x3 copy number gain See cases [RCV001526486] Chr3:195693872..197376871 [GRCh37]
Chr3:3q29		 risk factor
GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1 copy number loss not provided [RCV001795848] Chr3:191866466..197842171 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:194790394-197961930)x3 copy number gain Chromosome 3q29 microdeletion syndrome [RCV001801188] Chr3:194790394..197961930 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195993691-197851986)x3 copy number gain not provided [RCV001827845] Chr3:195993691..197851986 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195914129-196804639)x1 copy number loss not provided [RCV001827937] Chr3:195914129..196804639 [GRCh37]
Chr3:3q29		 pathogenic
Single allele deletion Chromosome 3q29 microdeletion syndrome [RCV002247703] Chr3:195833012..197340883 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197386180) copy number loss Chromosome 3q29 microdeletion syndrome [RCV002280743] Chr3:195703615..197386180 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q29(chr3:195690228-197356334)x1 copy number loss not provided [RCV002474511] Chr3:195690228..197356334 [GRCh37]
Chr3:3q29		 pathogenic
NM_025163.4(PIGZ):c.164G>C (p.Gly55Ala) single nucleotide variant Inborn genetic diseases [RCV002817158] Chr3:196951868 [GRCh38]
Chr3:196678739 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.890T>G (p.Leu297Trp) single nucleotide variant Inborn genetic diseases [RCV002728758] Chr3:196948007 [GRCh38]
Chr3:196674878 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.443C>A (p.Ala148Asp) single nucleotide variant Inborn genetic diseases [RCV002687228] Chr3:196948454 [GRCh38]
Chr3:196675325 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.1427C>T (p.Pro476Leu) single nucleotide variant Inborn genetic diseases [RCV002860492] Chr3:196947470 [GRCh38]
Chr3:196674341 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.458C>T (p.Ala153Val) single nucleotide variant Inborn genetic diseases [RCV002990511] Chr3:196948439 [GRCh38]
Chr3:196675310 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.864C>A (p.Asn288Lys) single nucleotide variant Inborn genetic diseases [RCV002974742] Chr3:196948033 [GRCh38]
Chr3:196674904 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.1456G>C (p.Asp486His) single nucleotide variant Inborn genetic diseases [RCV002981060] Chr3:196947441 [GRCh38]
Chr3:196674312 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.421G>A (p.Asp141Asn) single nucleotide variant Inborn genetic diseases [RCV002738288] Chr3:196948476 [GRCh38]
Chr3:196675347 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.938C>T (p.Ala313Val) single nucleotide variant Inborn genetic diseases [RCV002693355] Chr3:196947959 [GRCh38]
Chr3:196674830 [GRCh37]
Chr3:3q29		 likely benign
NM_025163.4(PIGZ):c.344C>T (p.Pro115Leu) single nucleotide variant Inborn genetic diseases [RCV002799289] Chr3:196948553 [GRCh38]
Chr3:196675424 [GRCh37]
Chr3:3q29		 likely benign
NM_025163.4(PIGZ):c.821C>T (p.Ala274Val) single nucleotide variant Inborn genetic diseases [RCV002660813] Chr3:196948076 [GRCh38]
Chr3:196674947 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.100G>A (p.Val34Ile) single nucleotide variant Inborn genetic diseases [RCV002691816] Chr3:196951932 [GRCh38]
Chr3:196678803 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.271C>T (p.Arg91Cys) single nucleotide variant Inborn genetic diseases [RCV002660610] Chr3:196948626 [GRCh38]
Chr3:196675497 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.604C>T (p.Arg202Cys) single nucleotide variant Inborn genetic diseases [RCV002709856] Chr3:196948293 [GRCh38]
Chr3:196675164 [GRCh37]
Chr3:3q29		 likely benign
NM_025163.4(PIGZ):c.982G>T (p.Val328Leu) single nucleotide variant Inborn genetic diseases [RCV002713082] Chr3:196947915 [GRCh38]
Chr3:196674786 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.1463G>C (p.Gly488Ala) single nucleotide variant Inborn genetic diseases [RCV002850677] Chr3:196947434 [GRCh38]
Chr3:196674305 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.476T>G (p.Leu159Arg) single nucleotide variant Inborn genetic diseases [RCV002701766] Chr3:196948421 [GRCh38]
Chr3:196675292 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.718C>A (p.Leu240Ile) single nucleotide variant Inborn genetic diseases [RCV002788630] Chr3:196948179 [GRCh38]
Chr3:196675050 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.794C>T (p.Ala265Val) single nucleotide variant Inborn genetic diseases [RCV002956321]|not provided [RCV003434633] Chr3:196948103 [GRCh38]
Chr3:196674974 [GRCh37]
Chr3:3q29		 likely benign|uncertain significance
NM_025163.4(PIGZ):c.1078C>T (p.Arg360Trp) single nucleotide variant Inborn genetic diseases [RCV002764864] Chr3:196947819 [GRCh38]
Chr3:196674690 [GRCh37]
Chr3:3q29		 likely benign
NM_025163.4(PIGZ):c.1030G>A (p.Gly344Ser) single nucleotide variant Inborn genetic diseases [RCV003006939] Chr3:196947867 [GRCh38]
Chr3:196674738 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.850G>A (p.Ala284Thr) single nucleotide variant Inborn genetic diseases [RCV002941625] Chr3:196948047 [GRCh38]
Chr3:196674918 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.1169G>A (p.Arg390Gln) single nucleotide variant Inborn genetic diseases [RCV002668735] Chr3:196947728 [GRCh38]
Chr3:196674599 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.1603A>G (p.Ser535Gly) single nucleotide variant Inborn genetic diseases [RCV002808927] Chr3:196947294 [GRCh38]
Chr3:196674165 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.932C>T (p.Thr311Met) single nucleotide variant Inborn genetic diseases [RCV002964045] Chr3:196947965 [GRCh38]
Chr3:196674836 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.1420C>T (p.His474Tyr) single nucleotide variant Inborn genetic diseases [RCV002748119] Chr3:196947477 [GRCh38]
Chr3:196674348 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.719T>C (p.Leu240Pro) single nucleotide variant Inborn genetic diseases [RCV002807862] Chr3:196948178 [GRCh38]
Chr3:196675049 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.979G>A (p.Gly327Arg) single nucleotide variant Inborn genetic diseases [RCV002655093] Chr3:196947918 [GRCh38]
Chr3:196674789 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.595G>A (p.Gly199Ser) single nucleotide variant Inborn genetic diseases [RCV003255498] Chr3:196948302 [GRCh38]
Chr3:196675173 [GRCh37]
Chr3:3q29		 likely benign
NM_025163.4(PIGZ):c.16T>C (p.Ser6Pro) single nucleotide variant Inborn genetic diseases [RCV003174409] Chr3:196952016 [GRCh38]
Chr3:196678887 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195950438-197629463) copy number loss See cases [RCV003223585] Chr3:195950438..197629463 [GRCh38]
Chr3:3q29		 pathogenic
NM_025163.4(PIGZ):c.1453G>T (p.Val485Leu) single nucleotide variant Inborn genetic diseases [RCV003195254] Chr3:196947444 [GRCh38]
Chr3:196674315 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.1267G>A (p.Gly423Ser) single nucleotide variant Inborn genetic diseases [RCV003366622] Chr3:196947630 [GRCh38]
Chr3:196674501 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.1682G>A (p.Ser561Asn) single nucleotide variant Inborn genetic diseases [RCV003361629] Chr3:196947215 [GRCh38]
Chr3:196674086 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:196190723-197605588)x3 copy number gain not provided [RCV003484163] Chr3:196190723..197605588 [GRCh37]
Chr3:3q29		 pathogenic
NM_025163.4(PIGZ):c.1011G>A (p.Ala337=) single nucleotide variant not provided [RCV003439183] Chr3:196947886 [GRCh38]
Chr3:196674757 [GRCh37]
Chr3:3q29		 likely benign
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_025163.4(PIGZ):c.1404C>T (p.Pro468=) single nucleotide variant not provided [RCV003434902] Chr3:196947493 [GRCh38]
Chr3:196674364 [GRCh37]
Chr3:3q29		 benign
NM_025163.4(PIGZ):c.345G>A (p.Pro115=) single nucleotide variant not provided [RCV003434903] Chr3:196948552 [GRCh38]
Chr3:196675423 [GRCh37]
Chr3:3q29		 likely benign
NM_025163.4(PIGZ):c.1140G>A (p.Leu380=) single nucleotide variant not provided [RCV003439182] Chr3:196947757 [GRCh38]
Chr3:196674628 [GRCh37]
Chr3:3q29		 likely benign
NM_025163.4(PIGZ):c.300T>C (p.Ser100=) single nucleotide variant not provided [RCV003434904] Chr3:196948597 [GRCh38]
Chr3:196675468 [GRCh37]
Chr3:3q29		 benign
NM_025163.4(PIGZ):c.371C>T (p.Ala124Val) single nucleotide variant not provided [RCV003439185] Chr3:196948526 [GRCh38]
Chr3:196675397 [GRCh37]
Chr3:3q29		 likely benign
NM_025163.4(PIGZ):c.1272C>T (p.Ala424=) single nucleotide variant not provided [RCV003439181] Chr3:196947625 [GRCh38]
Chr3:196674496 [GRCh37]
Chr3:3q29		 likely benign
NM_025163.4(PIGZ):c.447G>A (p.Pro149=) single nucleotide variant not provided [RCV003439184] Chr3:196948450 [GRCh38]
Chr3:196675321 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q29(chr3:196657995-197656512)x1 copy number loss not specified [RCV003986431] Chr3:196657995..197656512 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.464G>A (p.Arg155His) single nucleotide variant not provided [RCV003885770] Chr3:196948433 [GRCh38]
Chr3:196675304 [GRCh37]
Chr3:3q29		 likely benign
NM_025163.4(PIGZ):c.494C>T (p.Ser165Phe) single nucleotide variant Inborn genetic diseases [RCV003353818] Chr3:196948403 [GRCh38]
Chr3:196675274 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q29(chr3:194296197-198110198)x3 copy number gain See cases [RCV000138492] Chr3:194296197..198110198 [GRCh38]
Chr3:194013986..197837069 [GRCh37]
Chr3:195496680..199321466 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195963356-197629463)x3 copy number gain See cases [RCV000143489] Chr3:195963356..197629463 [GRCh38]
Chr3:195690227..197356334 [GRCh37]
Chr3:197174624..198840731 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:196281672-197681798)x3 copy number gain See cases [RCV000239963] Chr3:196281672..197681798 [GRCh37]
Chr3:3q29		 likely pathogenic
GRCh37/hg19 3q29(chr3:195456034-197851986)x3 copy number gain See cases [RCV000448647] Chr3:195456034..197851986 [GRCh37]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196011149)_(197606127_?)del deletion Schizophrenia [RCV000416880] Chr3:196011149..197606127 [GRCh38]
Chr3:195738020..197332998 [GRCh37]
Chr3:197222417..198817395 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x1 copy number loss See cases [RCV000447960] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
NC_000003.12:g.(?_196154147)_(197376501_?)del deletion Schizophrenia [RCV000754279] Chr3:196154147..197376501 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677895-197346971)x3 copy number gain not provided [RCV000743106] Chr3:195677895..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725402-197386693)x1 copy number loss not provided [RCV000743108] Chr3:195725402..197386693 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195738406-197346566)x3 copy number gain not provided [RCV000743109] Chr3:195738406..197346566 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196695508-196696681)x1 copy number loss not provided [RCV000743118] Chr3:196695508..196696681 [GRCh37]
Chr3:3q29		 benign
NC_000003.11:g.(?_195591052)_(197682644_?)dup duplication not provided [RCV003154915] Chr3:195591052..197682644 [GRCh37]
Chr3:3q29		 uncertain significance
NM_025163.4(PIGZ):c.1220C>T (p.Thr407Met) single nucleotide variant Inborn genetic diseases [RCV003340233] Chr3:196947677 [GRCh38]
Chr3:196674548 [GRCh37]
Chr3:3q29		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2073
Count of miRNA genes:860
Interacting mature miRNAs:1006
Transcripts:ENST00000238138, ENST00000412723, ENST00000413127, ENST00000443835
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
WI-16659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,673,291 - 196,673,417UniSTSGRCh37
Build 363198,157,688 - 198,157,814RGDNCBI36
Celera3195,259,909 - 195,260,035RGD
Cytogenetic Map3q29UniSTS
HuRef3193,973,439 - 193,973,565UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
Whitehead-RH Map3883.6UniSTS
NCBI RH Map32000.6UniSTS


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 1267 230 106 51 121 24 1408 523 2076 32 329 202 27 601 819
Low 1168 2373 1607 570 1389 438 2812 1659 1653 366 1112 1403 147 1 603 1969 2 2
Below cutoff 4 386 11 3 429 3 133 15 5 21 19 7 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_025163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG760692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX493581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA736224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000238138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,951,538 - 196,969,060 (-)Ensembl
RefSeq Acc Id: ENST00000412723   ⟹   ENSP00000413405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,946,356 - 196,968,833 (-)Ensembl
RefSeq Acc Id: ENST00000413127   ⟹   ENSP00000405341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,946,737 - 196,951,930 (-)Ensembl
RefSeq Acc Id: ENST00000443835   ⟹   ENSP00000389327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,948,097 - 196,968,871 (-)Ensembl
RefSeq Acc Id: NM_025163   ⟹   NP_079439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,946,356 - 196,968,833 (-)NCBI
GRCh373196,673,214 - 196,695,742 (-)NCBI
Build 363198,157,611 - 198,180,101 (-)NCBI Archive
Celera3195,259,832 - 195,282,326 (-)RGD
HuRef3193,973,362 - 193,995,816 (-)NCBI
CHM1_13196,644,550 - 196,666,991 (-)NCBI
T2T-CHM13v2.03199,672,412 - 199,695,046 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513192   ⟹   XP_011511494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,946,356 - 196,968,833 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007241   ⟹   XP_016862730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,946,356 - 196,968,833 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007243   ⟹   XP_016862732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,946,356 - 196,951,900 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453766   ⟹   XP_024309534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,946,356 - 196,968,833 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453767   ⟹   XP_024309535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,946,356 - 196,968,833 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448993   ⟹   XP_047304949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,946,356 - 196,968,833 (-)NCBI
RefSeq Acc Id: XM_054347965   ⟹   XP_054203940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,672,412 - 199,694,852 (-)NCBI
RefSeq Acc Id: XM_054347966   ⟹   XP_054203941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,672,412 - 199,695,067 (-)NCBI
RefSeq Acc Id: XM_054347967   ⟹   XP_054203942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,672,412 - 199,695,046 (-)NCBI
RefSeq Acc Id: XM_054347968   ⟹   XP_054203943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,672,412 - 199,695,046 (-)NCBI
RefSeq Acc Id: XM_054347969   ⟹   XP_054203944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,672,412 - 199,695,046 (-)NCBI
RefSeq Acc Id: XM_054347970   ⟹   XP_054203945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,672,412 - 199,695,046 (-)NCBI
RefSeq Acc Id: XM_054347971   ⟹   XP_054203946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,672,412 - 199,678,107 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_079439   ⟸   NM_025163
- UniProtKB: Q9H9G6 (UniProtKB/Swiss-Prot),   Q86VD9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511494   ⟸   XM_011513192
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016862730   ⟸   XM_017007241
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016862732   ⟸   XM_017007243
- Peptide Label: isoform X3
- UniProtKB: B4DL68 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309535   ⟸   XM_024453767
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024309534   ⟸   XM_024453766
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000413405   ⟸   ENST00000412723
RefSeq Acc Id: ENSP00000405341   ⟸   ENST00000413127
RefSeq Acc Id: ENSP00000389327   ⟸   ENST00000443835
RefSeq Acc Id: XP_047304949   ⟸   XM_047448993
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203941   ⟸   XM_054347966
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203945   ⟸   XM_054347970
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203944   ⟸   XM_054347969
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203943   ⟸   XM_054347968
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203942   ⟸   XM_054347967
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203940   ⟸   XM_054347965
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203946   ⟸   XM_054347971
- Peptide Label: isoform X3
- UniProtKB: B4DL68 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86VD9-F1-model_v2 AlphaFold Q86VD9 1-579 view protein structure

Promoters
RGD ID:6866722
Promoter ID:EPDNEW_H6525
Type:initiation region
Name:PIGZ_1
Description:phosphatidylinositol glycan anchor biosynthesis class Z
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,968,833 - 196,968,893EPDNEW
RGD ID:6801413
Promoter ID:HG_KWN:47514
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_025163,   OTTHUMT00000340489,   UC010IAK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363198,179,981 - 198,181,127 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30596 AgrOrtholog
COSMIC PIGZ COSMIC
Ensembl Genes ENSG00000119227 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000412723 ENTREZGENE
  ENST00000412723.6 UniProtKB/Swiss-Prot
  ENST00000413127.1 UniProtKB/TrEMBL
  ENST00000443835.1 UniProtKB/TrEMBL
GTEx ENSG00000119227 GTEx
HGNC ID HGNC:30596 ENTREZGENE
Human Proteome Map PIGZ Human Proteome Map
InterPro GPI_mannosylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 80235 ENTREZGENE
OMIM 611671 OMIM
PANTHER GPI MANNOSYLTRANSFERASE 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22760 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_transf_22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671171 PharmGKB
UniProt B4DL68 ENTREZGENE, UniProtKB/TrEMBL
  C9JQX2_HUMAN UniProtKB/TrEMBL
  H7C2E0_HUMAN UniProtKB/TrEMBL
  PIGZ_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9H9G6 ENTREZGENE
UniProt Secondary Q9H9G6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 PIGZ  phosphatidylinositol glycan anchor biosynthesis class Z    phosphatidylinositol glycan anchor biosynthesis, class Z  Symbol and/or name change 5135510 APPROVED