ZC3H3 (zinc finger CCCH-type containing 3) - Rat Genome Database

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Gene: ZC3H3 (zinc finger CCCH-type containing 3) Homo sapiens
Analyze
Symbol: ZC3H3
Name: zinc finger CCCH-type containing 3
RGD ID: 1316375
HGNC Page HGNC:28972
Description: Predicted to enable DNA binding activity; R-SMAD binding activity; and metal ion binding activity. Predicted to be involved in mRNA transport. Predicted to act upstream of or within mRNA 3'-end processing and positive regulation of activin receptor signaling pathway. Located in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA0150; smad-interacting CPSF-like factor; SMICL; ZC3HDC3; zinc finger CCCH domain-containing protein 3; zinc finger CCCH type domain containing 3; zinc finger CCCH-type domain containing 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388143,437,659 - 143,541,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,437,659 - 143,541,447 (-)EnsemblGRCh38hg38GRCh38
GRCh378144,519,829 - 144,623,617 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,590,968 - 144,694,763 (-)NCBINCBI36Build 36hg18NCBI36
Build 348144,590,974 - 144,694,746NCBI
Celera8140,831,713 - 140,933,556 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,772,578 - 139,874,905 (-)NCBIHuRef
CHM1_18144,560,281 - 144,663,535 (-)NCBICHM1_1
T2T-CHM13v2.08144,587,223 - 144,699,075 (-)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8590280   PMID:15489334   PMID:16115198   PMID:16751776   PMID:19274049   PMID:19364924   PMID:19851296   PMID:20198315   PMID:21244100   PMID:21873635   PMID:22658674   PMID:23509962  
PMID:24163370   PMID:26186194   PMID:26496610   PMID:26544073   PMID:27197753   PMID:28514442   PMID:29509190   PMID:31300519   PMID:31753913   PMID:31950173   PMID:33961781   PMID:35944360  
PMID:37071682   PMID:38360978  


Genomics

Comparative Map Data
ZC3H3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388143,437,659 - 143,541,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,437,659 - 143,541,447 (-)EnsemblGRCh38hg38GRCh38
GRCh378144,519,829 - 144,623,617 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,590,968 - 144,694,763 (-)NCBINCBI36Build 36hg18NCBI36
Build 348144,590,974 - 144,694,746NCBI
Celera8140,831,713 - 140,933,556 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,772,578 - 139,874,905 (-)NCBIHuRef
CHM1_18144,560,281 - 144,663,535 (-)NCBICHM1_1
T2T-CHM13v2.08144,587,223 - 144,699,075 (-)NCBIT2T-CHM13v2.0
Zc3h3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,626,279 - 75,713,772 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1575,626,279 - 75,713,764 (-)EnsemblGRCm39 Ensembl
GRCm381575,754,430 - 75,842,061 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,754,430 - 75,841,915 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,584,877 - 75,672,338 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361575,581,702 - 75,669,163 (-)NCBIMGSCv36mm8
MGSCv361576,251,464 - 76,338,765 (-)NCBIMGSCv36mm8
Celera1577,255,238 - 77,342,629 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1534.84NCBI
Zc3h3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87109,321,423 - 109,406,241 (-)NCBIGRCr8
mRatBN7.27107,440,694 - 107,525,451 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7107,440,694 - 107,525,451 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7109,179,939 - 109,264,663 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07111,403,612 - 111,488,339 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07111,349,520 - 111,434,264 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07116,787,762 - 116,872,536 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7116,787,766 - 116,872,511 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07116,679,040 - 116,765,271 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,714,123 - 113,813,124 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17113,743,162 - 113,847,328 (-)NCBI
Celera7103,802,384 - 103,885,283 (-)NCBICelera
Cytogenetic Map7q34NCBI
Zc3h3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,142,062 - 2,239,518 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,145,605 - 2,239,643 (-)NCBIChiLan1.0ChiLan1.0
ZC3H3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27160,918,461 - 161,036,705 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18136,435,580 - 136,541,985 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08140,188,041 - 140,294,113 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18143,203,325 - 143,309,829 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,203,325 - 143,310,210 (-)Ensemblpanpan1.1panPan2
ZC3H3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,128,915 - 37,214,643 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,130,999 - 37,214,997 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,086,105 - 37,173,402 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01337,601,143 - 37,688,716 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1337,601,129 - 37,688,672 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11337,275,547 - 37,363,068 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01337,392,711 - 37,480,013 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01337,873,663 - 37,961,174 (-)NCBIUU_Cfam_GSD_1.0
Zc3h3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,165,453 - 1,249,414 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364708,591,540 - 8,675,519 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364708,591,564 - 8,675,505 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZC3H3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,010,638 - 1,089,738 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,009,927 - 1,084,133 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,182,154 - 1,233,200 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZC3H3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,656,299 - 137,762,448 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8137,656,302 - 137,762,403 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660392,131,282 - 2,247,050 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zc3h3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473513,230,642 - 13,319,666 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473513,230,576 - 13,320,068 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZC3H3
65 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_015117.2(ZC3H3):c.2636C>T (p.Ser879Phe) single nucleotide variant Malignant melanoma [RCV000068193] Chr8:143440220 [GRCh38]
Chr8:144522390 [GRCh37]
Chr8:144593533 [NCBI36]
Chr8:8q24.3		 not provided
GRCh38/hg38 8q24.3(chr8:143329374-143531855)x3 copy number gain See cases [RCV000134350] Chr8:143329374..143531855 [GRCh38]
Chr8:144411544..144614025 [GRCh37]
Chr8:144482919..144685168 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
NM_015117.3(ZC3H3):c.2252G>A (p.Arg751His) single nucleotide variant not specified [RCV004332609] Chr8:143465772 [GRCh38]
Chr8:144547942 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144589991-144645202)x1 copy number loss See cases [RCV000448971] Chr8:144589991..144645202 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_015117.3(ZC3H3):c.1876G>A (p.Ala626Thr) single nucleotide variant not specified [RCV004296369] Chr8:143475425 [GRCh38]
Chr8:144557595 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.496C>T (p.Pro166Ser) single nucleotide variant not specified [RCV004315342] Chr8:143538871 [GRCh38]
Chr8:144621041 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144621035-144713934)x0 copy number loss not provided [RCV000747936] Chr8:144621035..144713934 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144621084-144638839)x0 copy number loss not provided [RCV000747937] Chr8:144621084..144638839 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144621839-144694067)x3 copy number gain not provided [RCV000747938] Chr8:144621839..144694067 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144623574-144685178)x3 copy number gain not provided [RCV000747939] Chr8:144623574..144685178 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144623574-144687901)x3 copy number gain not provided [RCV000747940] Chr8:144623574..144687901 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144623574-144694067)x3 copy number gain not provided [RCV000747941] Chr8:144623574..144694067 [GRCh37]
Chr8:8q24.3		 benign
NM_015117.3(ZC3H3):c.281C>T (p.Pro94Leu) single nucleotide variant not specified [RCV004299591] Chr8:143539086 [GRCh38]
Chr8:144621256 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_015117.3(ZC3H3):c.2779G>T (p.Val927Phe) single nucleotide variant not provided [RCV000892700] Chr8:143440077 [GRCh38]
Chr8:144522247 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143895666-144568446)x3 copy number gain not provided [RCV002472598] Chr8:143895666..144568446 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144320365-144624272)x3 copy number gain not provided [RCV001006154] Chr8:144320365..144624272 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144285728-144534781)x3 copy number gain not provided [RCV001259511] Chr8:144285728..144534781 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2552C>T (p.Ala851Val) single nucleotide variant not specified [RCV004686093] Chr8:143440304 [GRCh38]
Chr8:144522474 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2114G>A (p.Arg705Gln) single nucleotide variant not specified [RCV004686095] Chr8:143468270 [GRCh38]
Chr8:144550440 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1646C>T (p.Ser549Leu) single nucleotide variant Neutropenia [RCV002227878] Chr8:143507815 [GRCh38]
Chr8:144589985 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.1203G>C (p.Lys401Asn) single nucleotide variant Neutropenia [RCV002227879]|not provided [RCV003438983] Chr8:143538164 [GRCh38]
Chr8:144620334 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_144295143)_(145701139_?)del deletion Brown-Vialetto-van Laere syndrome 2 [RCV001939634]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001962911] Chr8:144295143..145701139 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_015117.3(ZC3H3):c.235C>T (p.Arg79Trp) single nucleotide variant not specified [RCV004290395] Chr8:143539132 [GRCh38]
Chr8:144621302 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_015117.3(ZC3H3):c.296G>A (p.Arg99Gln) single nucleotide variant not specified [RCV004282609] Chr8:143539071 [GRCh38]
Chr8:144621241 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.635C>G (p.Pro212Arg) single nucleotide variant not specified [RCV004116662] Chr8:143538732 [GRCh38]
Chr8:144620902 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2552C>G (p.Ala851Gly) single nucleotide variant not specified [RCV004135643] Chr8:143440304 [GRCh38]
Chr8:144522474 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.974G>A (p.Arg325Gln) single nucleotide variant not specified [RCV004120925] Chr8:143538393 [GRCh38]
Chr8:144620563 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1772C>T (p.Pro591Leu) single nucleotide variant not specified [RCV004155828] Chr8:143475529 [GRCh38]
Chr8:144557699 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2402A>T (p.Lys801Ile) single nucleotide variant not specified [RCV004078426] Chr8:143441026 [GRCh38]
Chr8:144523196 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.919C>T (p.Arg307Trp) single nucleotide variant not specified [RCV004190676] Chr8:143538448 [GRCh38]
Chr8:144620618 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2356G>T (p.Ala786Ser) single nucleotide variant not specified [RCV004132401] Chr8:143441072 [GRCh38]
Chr8:144523242 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.422C>T (p.Ala141Val) single nucleotide variant not specified [RCV004131297] Chr8:143538945 [GRCh38]
Chr8:144621115 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.1889C>T (p.Pro630Leu) single nucleotide variant not specified [RCV004211013] Chr8:143475412 [GRCh38]
Chr8:144557582 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1898G>A (p.Arg633His) single nucleotide variant not specified [RCV004237180] Chr8:143475403 [GRCh38]
Chr8:144557573 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1313C>T (p.Ala438Val) single nucleotide variant not specified [RCV004188190] Chr8:143538054 [GRCh38]
Chr8:144620224 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.530C>A (p.Thr177Lys) single nucleotide variant not specified [RCV004238101] Chr8:143538837 [GRCh38]
Chr8:144621007 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2497C>T (p.Pro833Ser) single nucleotide variant not specified [RCV004096968] Chr8:143440359 [GRCh38]
Chr8:144522529 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.1246T>A (p.Ser416Thr) single nucleotide variant not specified [RCV004205447] Chr8:143538121 [GRCh38]
Chr8:144620291 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.85C>G (p.Pro29Ala) single nucleotide variant not specified [RCV004205450] Chr8:143539282 [GRCh38]
Chr8:144621452 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2804C>G (p.Thr935Ser) single nucleotide variant not specified [RCV004145065] Chr8:143440052 [GRCh38]
Chr8:144522222 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.965G>C (p.Arg322Pro) single nucleotide variant not specified [RCV004100572] Chr8:143538402 [GRCh38]
Chr8:144620572 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1033G>A (p.Ala345Thr) single nucleotide variant not specified [RCV004170683] Chr8:143538334 [GRCh38]
Chr8:144620504 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1889C>A (p.Pro630His) single nucleotide variant not specified [RCV004181173] Chr8:143475412 [GRCh38]
Chr8:144557582 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1066G>A (p.Asp356Asn) single nucleotide variant not specified [RCV004228174] Chr8:143538301 [GRCh38]
Chr8:144620471 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1081C>T (p.Pro361Ser) single nucleotide variant not specified [RCV004125188] Chr8:143538286 [GRCh38]
Chr8:144620456 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.638G>A (p.Arg213Gln) single nucleotide variant not specified [RCV004212750] Chr8:143538729 [GRCh38]
Chr8:144620899 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2690C>A (p.Ala897Asp) single nucleotide variant not specified [RCV004136155] Chr8:143440166 [GRCh38]
Chr8:144522336 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2393G>A (p.Arg798His) single nucleotide variant not specified [RCV004193346] Chr8:143441035 [GRCh38]
Chr8:144523205 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1441G>A (p.Ala481Thr) single nucleotide variant not specified [RCV004222576] Chr8:143536377 [GRCh38]
Chr8:144618547 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1514G>A (p.Arg505Gln) single nucleotide variant not specified [RCV004118428] Chr8:143536304 [GRCh38]
Chr8:144618474 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2050C>T (p.Arg684Cys) single nucleotide variant not specified [RCV004144584] Chr8:143468437 [GRCh38]
Chr8:144550607 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1523G>A (p.Arg508His) single nucleotide variant not specified [RCV004155285] Chr8:143536295 [GRCh38]
Chr8:144618465 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.700G>A (p.Ala234Thr) single nucleotide variant not specified [RCV004118433] Chr8:143538667 [GRCh38]
Chr8:144620837 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.1546C>T (p.Leu516Phe) single nucleotide variant not specified [RCV004100228] Chr8:143536272 [GRCh38]
Chr8:144618442 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1699C>T (p.Arg567Trp) single nucleotide variant not specified [RCV004212379] Chr8:143507762 [GRCh38]
Chr8:144589932 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.646C>T (p.Arg216Cys) single nucleotide variant not specified [RCV004183487] Chr8:143538721 [GRCh38]
Chr8:144620891 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1288C>T (p.Leu430Phe) single nucleotide variant not specified [RCV004173286] Chr8:143538079 [GRCh38]
Chr8:144620249 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1522C>T (p.Arg508Cys) single nucleotide variant not specified [RCV004187675] Chr8:143536296 [GRCh38]
Chr8:144618466 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.2426C>T (p.Thr809Met) single nucleotide variant not specified [RCV004256349] Chr8:143441002 [GRCh38]
Chr8:144523172 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1243C>G (p.Pro415Ala) single nucleotide variant not specified [RCV004287293] Chr8:143538124 [GRCh38]
Chr8:144620294 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1888C>T (p.Pro630Ser) single nucleotide variant not specified [RCV004274216] Chr8:143475413 [GRCh38]
Chr8:144557583 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1201A>G (p.Lys401Glu) single nucleotide variant not specified [RCV004275727] Chr8:143538166 [GRCh38]
Chr8:144620336 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1541C>T (p.Ala514Val) single nucleotide variant not specified [RCV004268886] Chr8:143536277 [GRCh38]
Chr8:144618447 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2537C>T (p.Ser846Leu) single nucleotide variant not specified [RCV004339449] Chr8:143440319 [GRCh38]
Chr8:144522489 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.427C>T (p.Arg143Trp) single nucleotide variant not specified [RCV004350560] Chr8:143538940 [GRCh38]
Chr8:144621110 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.292G>C (p.Ala98Pro) single nucleotide variant not specified [RCV004360314] Chr8:143539075 [GRCh38]
Chr8:144621245 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1550C>T (p.Pro517Leu) single nucleotide variant not specified [RCV004352459] Chr8:143536268 [GRCh38]
Chr8:144618438 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.327T>G (p.His109Gln) single nucleotide variant not specified [RCV004335098] Chr8:143539040 [GRCh38]
Chr8:144621210 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1429C>T (p.Arg477Trp) single nucleotide variant not specified [RCV004341846] Chr8:143536389 [GRCh38]
Chr8:144618559 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1877C>T (p.Ala626Val) single nucleotide variant not specified [RCV004335103] Chr8:143475424 [GRCh38]
Chr8:144557594 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3 copy number gain not provided [RCV003484757] Chr8:144282591..144740223 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_015117.3(ZC3H3):c.1554C>G (p.Thr518=) single nucleotide variant not provided [RCV003440719] Chr8:143536264 [GRCh38]
Chr8:144618434 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.2748G>C (p.Gln916His) single nucleotide variant not provided [RCV003440717] Chr8:143440108 [GRCh38]
Chr8:144522278 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.2405G>A (p.Arg802His) single nucleotide variant not provided [RCV003440718] Chr8:143441023 [GRCh38]
Chr8:144523193 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.2811C>T (p.Asp937=) single nucleotide variant not provided [RCV003435625] Chr8:143440045 [GRCh38]
Chr8:144522215 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_015117.3(ZC3H3):c.243G>T (p.Pro81=) single nucleotide variant not provided [RCV003886016] Chr8:143539124 [GRCh38]
Chr8:144621294 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.2627C>T (p.Ser876Phe) single nucleotide variant not specified [RCV004481302] Chr8:143440229 [GRCh38]
Chr8:144522399 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.530C>G (p.Thr177Arg) single nucleotide variant not specified [RCV004481303] Chr8:143538837 [GRCh38]
Chr8:144621007 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.649C>T (p.Arg217Trp) single nucleotide variant not specified [RCV004481305] Chr8:143538718 [GRCh38]
Chr8:144620888 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.690C>G (p.Phe230Leu) single nucleotide variant not specified [RCV004481307] Chr8:143538677 [GRCh38]
Chr8:144620847 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.166C>T (p.Arg56Cys) single nucleotide variant not specified [RCV004481293] Chr8:143539201 [GRCh38]
Chr8:144621371 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1108C>A (p.Pro370Thr) single nucleotide variant not specified [RCV004481290] Chr8:143538259 [GRCh38]
Chr8:144620429 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1312G>T (p.Ala438Ser) single nucleotide variant not specified [RCV004481291] Chr8:143538055 [GRCh38]
Chr8:144620225 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1537C>T (p.Arg513Trp) single nucleotide variant not specified [RCV004481292] Chr8:143536281 [GRCh38]
Chr8:144618451 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.176G>A (p.Arg59Gln) single nucleotide variant not specified [RCV004481294] Chr8:143539191 [GRCh38]
Chr8:144621361 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1802A>G (p.Tyr601Cys) single nucleotide variant not specified [RCV004481295] Chr8:143475499 [GRCh38]
Chr8:144557669 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1934G>A (p.Arg645His) single nucleotide variant not specified [RCV004481297] Chr8:143468629 [GRCh38]
Chr8:144550799 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2357C>T (p.Ala786Val) single nucleotide variant not specified [RCV004481298] Chr8:143441071 [GRCh38]
Chr8:144523241 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.2366G>A (p.Arg789His) single nucleotide variant not specified [RCV004481300] Chr8:143441062 [GRCh38]
Chr8:144523232 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2404C>T (p.Arg802Cys) single nucleotide variant not specified [RCV004481301] Chr8:143441024 [GRCh38]
Chr8:144523194 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.552T>G (p.Ser184Arg) single nucleotide variant not specified [RCV004481304] Chr8:143538815 [GRCh38]
Chr8:144620985 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.653C>T (p.Thr218Ile) single nucleotide variant not specified [RCV004481306] Chr8:143538714 [GRCh38]
Chr8:144620884 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.713G>A (p.Arg238His) single nucleotide variant not specified [RCV004481308] Chr8:143538654 [GRCh38]
Chr8:144620824 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.833C>T (p.Ser278Leu) single nucleotide variant not specified [RCV004481309] Chr8:143538534 [GRCh38]
Chr8:144620704 [GRCh37]
Chr8:8q24.3		 likely benign
NM_015117.3(ZC3H3):c.869G>T (p.Arg290Met) single nucleotide variant not specified [RCV004481310] Chr8:143538498 [GRCh38]
Chr8:144620668 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.895G>A (p.Val299Met) single nucleotide variant not specified [RCV004481311] Chr8:143538472 [GRCh38]
Chr8:144620642 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1375G>A (p.Asp459Asn) single nucleotide variant not specified [RCV004686100] Chr8:143536443 [GRCh38]
Chr8:144618613 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.614T>C (p.Val205Ala) single nucleotide variant not specified [RCV004686092] Chr8:143538753 [GRCh38]
Chr8:144620923 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1465G>T (p.Val489Phe) single nucleotide variant not specified [RCV004686099] Chr8:143536353 [GRCh38]
Chr8:144618523 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.2594C>T (p.Ala865Val) single nucleotide variant not specified [RCV004686096] Chr8:143440262 [GRCh38]
Chr8:144522432 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1700G>C (p.Arg567Pro) single nucleotide variant not specified [RCV004686098] Chr8:143507761 [GRCh38]
Chr8:144589931 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_015117.3(ZC3H3):c.1284G>C (p.Lys428Asn) single nucleotide variant not specified [RCV004686094] Chr8:143538083 [GRCh38]
Chr8:144620253 [GRCh37]
Chr8:8q24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:715
Count of miRNA genes:480
Interacting mature miRNAs:536
Transcripts:ENST00000262577, ENST00000528401
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407078290GWAS727266_Hleukocyte count QTL GWAS727266 (human)8e-10leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)8143494679143494680Human
407168181GWAS817157_Hneutrophil measurement QTL GWAS817157 (human)2e-18neutrophil measurement8143531002143531003Human
407166914GWAS815890_Hneutrophil measurement QTL GWAS815890 (human)3e-09neutrophil measurement8143535521143535522Human
407039480GWAS688456_Hbody fat percentage QTL GWAS688456 (human)5e-08body fat percentagebody fat percentage (CMO:0000302)8143471031143471032Human
407097240GWAS746216_Hprotein measurement QTL GWAS746216 (human)1e-08protein measurement8143527863143527864Human
407080191GWAS729167_Hcardiovascular age measurement QTL GWAS729167 (human)0.000001cardiovascular age measurement8143437977143437978Human
407135963GWAS784939_HS-6-hydroxywarfarin measurement QTL GWAS784939 (human)7e-08S-6-hydroxywarfarin measurement8143464265143464266Human
407194506GWAS843482_Hneutrophil measurement QTL GWAS843482 (human)2e-13neutrophil measurement8143518598143518599Human

Markers in Region
D8S1406E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,519,849 - 144,519,966UniSTSGRCh37
Build 368144,590,992 - 144,591,109RGDNCBI36
Celera8140,831,737 - 140,831,854RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,772,602 - 139,772,719UniSTS
RH25370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,621,306 - 144,621,482UniSTSGRCh37
Build 368144,692,449 - 144,692,625RGDNCBI36
Celera8140,931,256 - 140,931,432RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,872,591 - 139,872,767UniSTS
GeneMap99-GB4 RH Map8548.97UniSTS
D8S1998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,533,097 - 144,533,221UniSTSGRCh37
Build 368144,604,240 - 144,604,364RGDNCBI36
Celera8140,844,976 - 140,845,100RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,785,841 - 139,785,965UniSTS
Whitehead-RH Map8714.8UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA806585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM148116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ583219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262577   ⟹   ENSP00000262577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,437,659 - 143,541,447 (-)Ensembl
Ensembl Acc Id: ENST00000528401   ⟹   ENSP00000436834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,484,497 - 143,507,840 (-)Ensembl
RefSeq Acc Id: NM_015117   ⟹   NP_055932
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,437,659 - 143,541,447 (-)NCBI
GRCh378144,519,825 - 144,624,449 (-)NCBI
Build 368144,590,968 - 144,694,763 (-)NCBI Archive
Celera8140,831,713 - 140,933,556 (-)RGD
HuRef8139,772,578 - 139,874,905 (-)ENTREZGENE
CHM1_18144,560,281 - 144,663,535 (-)NCBI
T2T-CHM13v2.08144,587,223 - 144,690,776 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516943   ⟹   XP_011515245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,450,558 - 143,541,447 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516944   ⟹   XP_011515246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,475,609 - 143,541,447 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054360168   ⟹   XP_054216143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,587,223 - 144,699,075 (-)NCBI
RefSeq Acc Id: XM_054360169   ⟹   XP_054216144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,600,117 - 144,690,776 (-)NCBI
RefSeq Acc Id: XM_054360170   ⟹   XP_054216145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,625,170 - 144,690,776 (-)NCBI
RefSeq Acc Id: XR_008487828
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,657,130 - 144,690,776 (-)NCBI
RefSeq Acc Id: XR_928313
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,507,834 - 143,541,447 (-)NCBI
Sequence:
RefSeq Acc Id: NP_055932   ⟸   NM_015117
- UniProtKB: Q8N4E2 (UniProtKB/Swiss-Prot),   Q14163 (UniProtKB/Swiss-Prot),   Q9BUS4 (UniProtKB/Swiss-Prot),   Q8IXZ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515245   ⟸   XM_011516943
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515246   ⟸   XM_011516944
- Peptide Label: isoform X2
- UniProtKB: A0A0J9YYE2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000262577   ⟸   ENST00000262577
Ensembl Acc Id: ENSP00000436834   ⟸   ENST00000528401
RefSeq Acc Id: XP_054216143   ⟸   XM_054360168
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216144   ⟸   XM_054360169
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216145   ⟸   XM_054360170
- Peptide Label: isoform X2
- UniProtKB: A0A0J9YYE2 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IXZ2-F1-model_v2 AlphaFold Q8IXZ2 1-948 view protein structure

Promoters
RGD ID:7214351
Promoter ID:EPDNEW_H12921
Type:initiation region
Name:ZC3H3_2
Description:zinc finger CCCH-type containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12927  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,541,437 - 143,541,497EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28972 AgrOrtholog
COSMIC ZC3H3 COSMIC
Ensembl Genes ENSG00000014164 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000282684 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262577 ENTREZGENE
  ENST00000262577.6 UniProtKB/Swiss-Prot
  ENST00000528401.1 UniProtKB/TrEMBL
  ENST00000632165.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1370.210 UniProtKB/Swiss-Prot
  Zinc finger, CCCH-type UniProtKB/Swiss-Prot
GTEx ENSG00000014164 GTEx
  ENSG00000282684 GTEx
HGNC ID HGNC:28972 ENTREZGENE
Human Proteome Map ZC3H3 Human Proteome Map
InterPro Znf_CCCH UniProtKB/Swiss-Prot
  Znf_CCCH_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23144 UniProtKB/Swiss-Prot
NCBI Gene 23144 ENTREZGENE
OMIM 618640 OMIM
PANTHER CCCH ZINGC FINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-CCCH UniProtKB/Swiss-Prot
PharmGKB PA134933089 PharmGKB
PROSITE ZF_C3H1 UniProtKB/Swiss-Prot
SMART ZnF_C3H1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF90229 UniProtKB/Swiss-Prot
UniProt A0A0J9YYE2 ENTREZGENE, UniProtKB/TrEMBL
  H0YEY2_HUMAN UniProtKB/TrEMBL
  Q14163 ENTREZGENE
  Q8IXZ2 ENTREZGENE
  Q8N4E2 ENTREZGENE
  Q9BUS4 ENTREZGENE
  ZC3H3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q14163 UniProtKB/Swiss-Prot
  Q8N4E2 UniProtKB/Swiss-Prot
  Q9BUS4 UniProtKB/Swiss-Prot