ZNF324B (zinc finger protein 324B) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ZNF324B (zinc finger protein 324B) Homo sapiens
Analyze
Symbol: ZNF324B
Name: zinc finger protein 324B
RGD ID: 1603828
HGNC Page HGNC:33107
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ45850
RGD Orthologs
Rat
Bonobo
Dog
Pig
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
GRCh381958,418,396 - 58,457,833 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1958,451,611 - 58,457,833 (+)EnsemblGRCh38hg38GRCh38
GRCh371958,962,989 - 58,969,200 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361963,654,783 - 63,661,011 (+)NCBINCBI36Build 36hg18NCBI36
Celera1956,006,972 - 56,013,201 (+)NCBICelera
Cytogenetic Map19q13.43NCBI
HuRef1955,271,912 - 55,278,141 (+)NCBIHuRef
CHM1_11958,956,843 - 58,963,072 (+)NCBICHM1_1
T2T-CHM13v2.01961,514,353 - 61,553,798 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IBA,IEA)

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
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:20562864   PMID:21873635   PMID:28514442   PMID:29507755   PMID:33961781   PMID:35563538   PMID:35748872  


Genomics

Comparative Map Data
ZNF324B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381958,418,396 - 58,457,833 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1958,451,611 - 58,457,833 (+)EnsemblGRCh38hg38GRCh38
GRCh371958,962,989 - 58,969,200 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361963,654,783 - 63,661,011 (+)NCBINCBI36Build 36hg18NCBI36
Celera1956,006,972 - 56,013,201 (+)NCBICelera
Cytogenetic Map19q13.43NCBI
HuRef1955,271,912 - 55,278,141 (+)NCBIHuRef
CHM1_11958,956,843 - 58,963,072 (+)NCBICHM1_1
T2T-CHM13v2.01961,514,353 - 61,553,798 (+)NCBIT2T-CHM13v2.0
Zfp324
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8182,663,611 - 82,672,785 (+)NCBIGRCr8
mRatBN7.2173,591,411 - 73,600,601 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl173,591,491 - 73,597,894 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx178,971,864 - 78,981,006 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0187,536,204 - 87,545,344 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0180,726,937 - 80,736,082 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0165,604,342 - 65,612,196 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl165,606,520 - 65,611,815 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0166,414,380 - 66,423,065 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4172,953,866 - 72,961,550 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1173,031,980 - 73,034,113 (-)NCBI
Celera160,239,920 - 60,247,748 (-)NCBICelera
Cytogenetic Map1q21NCBI
ZNF324B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22064,726,279 - 64,732,495 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11966,503,341 - 66,520,388 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01955,458,533 - 55,464,744 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11964,283,432 - 64,289,592 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1964,285,509 - 64,288,340 (+)Ensemblpanpan1.1panPan2
LOC119870868
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ROS_Cfam_1.01100,090,151 - 100,096,115 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1100,080,264 - 100,096,063 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1199,735,256 - 99,741,438 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0199,448,085 - 99,454,052 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01100,202,736 - 100,208,918 (-)NCBIUU_Cfam_GSD_1.0
LOC110261334
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1663,043,264 - 63,049,273 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1

Variants

.
Variants in ZNF324B
78 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3 copy number gain See cases [RCV000052927] Chr19:56363208..58581203 [GRCh38]
Chr19:56874577..59092570 [GRCh37]
Chr19:61566389..63784382 [NCBI36]
Chr19:19q13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
NM_207395.2(ZNF324B):c.27C>T (p.Tyr9=) single nucleotide variant Malignant melanoma [RCV000072426] Chr19:58453728 [GRCh38]
Chr19:58965095 [GRCh37]
Chr19:63656907 [NCBI36]
Chr19:19q13.43
not provided
NM_207395.2(ZNF324B):c.954C>T (p.Cys318=) single nucleotide variant Malignant melanoma [RCV000072427] Chr19:58455898 [GRCh38]
Chr19:58967265 [GRCh37]
Chr19:63659077 [NCBI36]
Chr19:19q13.43
not provided
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 copy number gain See cases [RCV000134174] Chr19:52612432..58581203 [GRCh38]
Chr19:53115685..59092570 [GRCh37]
Chr19:57807497..63784382 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 copy number gain See cases [RCV000134139] Chr19:52955056..58581203 [GRCh38]
Chr19:53458309..59092570 [GRCh37]
Chr19:58150121..63784382 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1 copy number loss See cases [RCV000135198] Chr19:58407283..58581129 [GRCh38]
Chr19:58918650..59092496 [GRCh37]
Chr19:63610462..63784308 [NCBI36]
Chr19:19q13.43
likely benign
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
NM_003433.3(ZNF132):c.1233C>T (p.Ser411=) single nucleotide variant Malignant melanoma [RCV000072424] Chr19:58434211 [GRCh38]
Chr19:58945578 [GRCh37]
Chr19:63637390 [NCBI36]
Chr19:19q13.43
not provided
NM_003433.3(ZNF132):c.1232C>T (p.Ser411Phe) single nucleotide variant Malignant melanoma [RCV000072425] Chr19:58434212 [GRCh38]
Chr19:58945579 [GRCh37]
Chr19:63637391 [NCBI36]
Chr19:19q13.43
not provided
NC_000019.10:g.58422632A>G single nucleotide variant Lung cancer [RCV000101341] Chr19:58422632 [GRCh38]
Chr19:58933999 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.799G>A (p.Val267Met) single nucleotide variant Inborn genetic diseases [RCV003268144] Chr19:58455743 [GRCh38]
Chr19:58967110 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.366C>G (p.Phe122Leu) single nucleotide variant Inborn genetic diseases [RCV003244359] Chr19:58435078 [GRCh38]
Chr19:58946445 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NM_003433.4(ZNF132):c.1246T>C (p.Ser416Pro) single nucleotide variant Inborn genetic diseases [RCV003272590] Chr19:58434198 [GRCh38]
Chr19:58945565 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.476G>A (p.Ser159Asn) single nucleotide variant Inborn genetic diseases [RCV003283668] Chr19:58455420 [GRCh38]
Chr19:58966787 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.807C>G (p.Ser269Arg) single nucleotide variant Inborn genetic diseases [RCV003253135] Chr19:58455751 [GRCh38]
Chr19:58967118 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.2014C>T (p.Arg672Trp) single nucleotide variant Inborn genetic diseases [RCV003262119] Chr19:58433430 [GRCh38]
Chr19:58944797 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NM_003433.4(ZNF132):c.1705A>G (p.Arg569Gly) single nucleotide variant Inborn genetic diseases [RCV003266684] Chr19:58433739 [GRCh38]
Chr19:58945106 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.82G>A (p.Gly28Ser) single nucleotide variant Inborn genetic diseases [RCV003266936] Chr19:58437197 [GRCh38]
Chr19:58948564 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh37/hg19 19q13.43(chr19:58882821-58995308)x3 copy number gain not provided [RCV000847205] Chr19:58882821..58995308 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.595A>G (p.Lys199Glu) single nucleotide variant Inborn genetic diseases [RCV003276596] Chr19:58434849 [GRCh38]
Chr19:58946216 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1243C>T (p.His415Tyr) single nucleotide variant Inborn genetic diseases [RCV003276939] Chr19:58456187 [GRCh38]
Chr19:58967554 [GRCh37]
Chr19:19q13.43
uncertain significance
GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3 copy number gain See cases [RCV000141900] Chr19:56353449..58445521 [GRCh38]
Chr19:56864818..58956888 [GRCh37]
Chr19:61556630..63648700 [NCBI36]
Chr19:19q13.43
uncertain significance
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 copy number gain See cases [RCV000142008] Chr19:52143873..58445521 [GRCh38]
Chr19:52647126..58956888 [GRCh37]
Chr19:57338938..63648700 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
NM_003433.4(ZNF132):c.698A>C (p.Gln233Pro) single nucleotide variant Inborn genetic diseases [RCV003253132] Chr19:58434746 [GRCh38]
Chr19:58946113 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.1402T>A (p.Phe468Ile) single nucleotide variant Inborn genetic diseases [RCV003287383] Chr19:58434042 [GRCh38]
Chr19:58945409 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.871C>A (p.His291Asn) single nucleotide variant Inborn genetic diseases [RCV002686657] Chr19:58434573 [GRCh38]
Chr19:58945940 [GRCh37]
Chr19:19q13.43
likely benign
NM_003433.4(ZNF132):c.56C>T (p.Pro19Leu) single nucleotide variant Inborn genetic diseases [RCV002859695] Chr19:58439766 [GRCh38]
Chr19:58951133 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1201C>T (p.Leu401Phe) single nucleotide variant Inborn genetic diseases [RCV002728246] Chr19:58456145 [GRCh38]
Chr19:58967512 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.875A>C (p.Lys292Thr) single nucleotide variant Inborn genetic diseases [RCV002778724] Chr19:58455819 [GRCh38]
Chr19:58967186 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1616T>C (p.Leu539Pro) single nucleotide variant Inborn genetic diseases [RCV002991923] Chr19:58456560 [GRCh38]
Chr19:58967927 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.960G>C (p.Lys320Asn) single nucleotide variant Inborn genetic diseases [RCV002879530] Chr19:58455904 [GRCh38]
Chr19:58967271 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.906C>G (p.His302Gln) single nucleotide variant Inborn genetic diseases [RCV002845970] Chr19:58434538 [GRCh38]
Chr19:58945905 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.1937A>G (p.Gln646Arg) single nucleotide variant Inborn genetic diseases [RCV002977532] Chr19:58433507 [GRCh38]
Chr19:58944874 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.871C>T (p.His291Tyr) single nucleotide variant Inborn genetic diseases [RCV002911885] Chr19:58434573 [GRCh38]
Chr19:58945940 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.1152C>G (p.Phe384Leu) single nucleotide variant Inborn genetic diseases [RCV002821549] Chr19:58434292 [GRCh38]
Chr19:58945659 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.559C>G (p.Leu187Val) single nucleotide variant Inborn genetic diseases [RCV002844144] Chr19:58434885 [GRCh38]
Chr19:58946252 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.986A>G (p.Asn329Ser) single nucleotide variant Inborn genetic diseases [RCV002693064] Chr19:58434458 [GRCh38]
Chr19:58945825 [GRCh37]
Chr19:19q13.43
likely benign
NM_003433.4(ZNF132):c.607G>A (p.Gly203Ser) single nucleotide variant Inborn genetic diseases [RCV002925872] Chr19:58434837 [GRCh38]
Chr19:58946204 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.571C>A (p.Pro191Thr) single nucleotide variant Inborn genetic diseases [RCV002701786] Chr19:58434873 [GRCh38]
Chr19:58946240 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.1723G>C (p.Glu575Gln) single nucleotide variant Inborn genetic diseases [RCV002764156] Chr19:58433721 [GRCh38]
Chr19:58945088 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.407C>T (p.Pro136Leu) single nucleotide variant Inborn genetic diseases [RCV002854283] Chr19:58455351 [GRCh38]
Chr19:58966718 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.80G>A (p.Arg27His) single nucleotide variant Inborn genetic diseases [RCV002743758] Chr19:58453781 [GRCh38]
Chr19:58965148 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.572C>T (p.Pro191Leu) single nucleotide variant Inborn genetic diseases [RCV002827110] Chr19:58434872 [GRCh38]
Chr19:58946239 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.25C>A (p.Leu9Ile) single nucleotide variant Inborn genetic diseases [RCV002827592] Chr19:58439797 [GRCh38]
Chr19:58951164 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1445T>C (p.Val482Ala) single nucleotide variant Inborn genetic diseases [RCV002802533] Chr19:58456389 [GRCh38]
Chr19:58967756 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.206T>C (p.Leu69Pro) single nucleotide variant Inborn genetic diseases [RCV002803393] Chr19:58454312 [GRCh38]
Chr19:58965679 [GRCh37]
Chr19:19q13.43
likely benign
NM_003433.4(ZNF132):c.1325A>G (p.Asn442Ser) single nucleotide variant Inborn genetic diseases [RCV003004658] Chr19:58434119 [GRCh38]
Chr19:58945486 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.307A>T (p.Ile103Phe) single nucleotide variant Inborn genetic diseases [RCV002915868] Chr19:58435137 [GRCh38]
Chr19:58946504 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1282G>C (p.Ala428Pro) single nucleotide variant Inborn genetic diseases [RCV002788493] Chr19:58456226 [GRCh38]
Chr19:58967593 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1415G>A (p.Arg472Gln) single nucleotide variant Inborn genetic diseases [RCV002648465] Chr19:58456359 [GRCh38]
Chr19:58967726 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.941C>G (p.Thr314Ser) single nucleotide variant Inborn genetic diseases [RCV002813474] Chr19:58434503 [GRCh38]
Chr19:58945870 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.228G>T (p.Arg76Ser) single nucleotide variant Inborn genetic diseases [RCV002941108] Chr19:58454334 [GRCh38]
Chr19:58965701 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.1689A>T (p.Arg563Ser) single nucleotide variant Inborn genetic diseases [RCV002768875] Chr19:58433755 [GRCh38]
Chr19:58945122 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.531C>A (p.Asp177Glu) single nucleotide variant Inborn genetic diseases [RCV002961827] Chr19:58434913 [GRCh38]
Chr19:58946280 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.1889G>A (p.Ser630Asn) single nucleotide variant Inborn genetic diseases [RCV002714586] Chr19:58433555 [GRCh38]
Chr19:58944922 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.1805G>A (p.Ser602Asn) single nucleotide variant Inborn genetic diseases [RCV002961362] Chr19:58433639 [GRCh38]
Chr19:58945006 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1382G>C (p.Gly461Ala) single nucleotide variant Inborn genetic diseases [RCV002934903] Chr19:58456326 [GRCh38]
Chr19:58967693 [GRCh37]
Chr19:19q13.43
likely benign
NM_003433.4(ZNF132):c.1627T>C (p.Tyr543His) single nucleotide variant Inborn genetic diseases [RCV002657445] Chr19:58433817 [GRCh38]
Chr19:58945184 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1316A>G (p.Asn439Ser) single nucleotide variant Inborn genetic diseases [RCV003186472] Chr19:58456260 [GRCh38]
Chr19:58967627 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.316G>A (p.Ala106Thr) single nucleotide variant Inborn genetic diseases [RCV003217143] Chr19:58435128 [GRCh38]
Chr19:58946495 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1307G>A (p.Arg436His) single nucleotide variant Inborn genetic diseases [RCV003202720] Chr19:58456251 [GRCh38]
Chr19:58967618 [GRCh37]
Chr19:19q13.43
likely benign
NM_003433.4(ZNF132):c.1163C>G (p.Ser388Cys) single nucleotide variant Inborn genetic diseases [RCV003286906] Chr19:58434281 [GRCh38]
Chr19:58945648 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.1145G>C (p.Arg382Thr) single nucleotide variant Inborn genetic diseases [RCV003197288] Chr19:58434299 [GRCh38]
Chr19:58945666 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.1241G>A (p.Arg414Gln) single nucleotide variant Inborn genetic diseases [RCV003283812] Chr19:58434203 [GRCh38]
Chr19:58945570 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.637C>G (p.Leu213Val) single nucleotide variant Inborn genetic diseases [RCV003196166] Chr19:58455581 [GRCh38]
Chr19:58966948 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.811A>G (p.Asn271Asp) single nucleotide variant Inborn genetic diseases [RCV003191595] Chr19:58434633 [GRCh38]
Chr19:58946000 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1007C>T (p.Thr336Met) single nucleotide variant Inborn genetic diseases [RCV003303778] Chr19:58455951 [GRCh38]
Chr19:58967318 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.52G>T (p.Gly18Cys) single nucleotide variant Inborn genetic diseases [RCV003266181] Chr19:58439770 [GRCh38]
Chr19:58951137 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.1145C>T (p.Ser382Leu) single nucleotide variant Inborn genetic diseases [RCV003358529] Chr19:58456089 [GRCh38]
Chr19:58967456 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.533C>T (p.Thr178Ile) single nucleotide variant Inborn genetic diseases [RCV003364464] Chr19:58455477 [GRCh38]
Chr19:58966844 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.1013A>G (p.Gln338Arg) single nucleotide variant Inborn genetic diseases [RCV003383915] Chr19:58434431 [GRCh38]
Chr19:58945798 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.352A>C (p.Met118Leu) single nucleotide variant Inborn genetic diseases [RCV003365093] Chr19:58435092 [GRCh38]
Chr19:58946459 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.472C>T (p.His158Tyr) single nucleotide variant Inborn genetic diseases [RCV003362611] Chr19:58434972 [GRCh38]
Chr19:58946339 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.419C>T (p.Ser140Leu) single nucleotide variant Inborn genetic diseases [RCV003383166] Chr19:58455363 [GRCh38]
Chr19:58966730 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.115A>T (p.Thr39Ser) single nucleotide variant Inborn genetic diseases [RCV003377439] Chr19:58437164 [GRCh38]
Chr19:58948531 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_003433.4(ZNF132):c.840T>C (p.Gly280=) single nucleotide variant not provided [RCV003407144] Chr19:58434604 [GRCh38]
Chr19:58945971 [GRCh37]
Chr19:19q13.43
likely benign
NM_003433.4(ZNF132):c.1836C>T (p.Ser612=) single nucleotide variant not provided [RCV003415480] Chr19:58433608 [GRCh38]
Chr19:58944975 [GRCh37]
Chr19:19q13.43
likely benign
NM_207395.3(ZNF324B):c.1567C>A (p.Gln523Lys) single nucleotide variant Inborn genetic diseases [RCV003353816] Chr19:58456511 [GRCh38]
Chr19:58967878 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_207395.3(ZNF324B):c.530A>G (p.Lys177Arg) single nucleotide variant Inborn genetic diseases [RCV003379734] Chr19:58455474 [GRCh38]
Chr19:58966841 [GRCh37]
Chr19:19q13.43
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2630
Count of miRNA genes:852
Interacting mature miRNAs:1025
Transcripts:ENST00000336614, ENST00000391696, ENST00000545523, ENST00000594214, ENST00000598244, ENST00000599193, ENST00000599194
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 8 2 2 31 2 7 5 25 6 39 46 2
Low 2425 2444 1698 598 1553 439 4318 2024 3413 407 1420 1563 173 1 1203 2756 6 2
Below cutoff 6 546 26 24 364 24 32 168 296 6 1 4 1 32

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_207395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM714371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000336614   ⟹   ENSP00000337473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,451,622 - 58,457,833 (+)Ensembl
RefSeq Acc Id: ENST00000545523   ⟹   ENSP00000438930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,451,611 - 58,457,132 (+)Ensembl
RefSeq Acc Id: ENST00000594214   ⟹   ENSP00000471086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,451,647 - 58,454,606 (+)Ensembl
RefSeq Acc Id: ENST00000598244   ⟹   ENSP00000471122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,451,625 - 58,454,344 (+)Ensembl
RefSeq Acc Id: ENST00000599193   ⟹   ENSP00000473115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,451,625 - 58,455,387 (+)Ensembl
RefSeq Acc Id: ENST00000599194   ⟹   ENSP00000472178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,451,619 - 58,455,359 (+)Ensembl
RefSeq Acc Id: NM_207395   ⟹   NP_997278
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,451,622 - 58,457,833 (+)NCBI
GRCh371958,962,971 - 58,969,199 (+)RGD
Build 361963,654,783 - 63,661,011 (+)NCBI Archive
Celera1956,006,972 - 56,013,201 (+)RGD
HuRef1955,271,912 - 55,278,141 (+)ENTREZGENE
CHM1_11958,956,843 - 58,963,072 (+)NCBI
T2T-CHM13v2.01961,547,594 - 61,553,798 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005258915   ⟹   XP_005258972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,451,622 - 58,457,833 (+)NCBI
GRCh371958,962,971 - 58,969,199 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005258918   ⟹   XP_005258975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,451,622 - 58,457,833 (+)NCBI
GRCh371958,962,971 - 58,969,199 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047438806   ⟹   XP_047294762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,451,622 - 58,457,833 (+)NCBI
RefSeq Acc Id: XM_047438807   ⟹   XP_047294763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,418,396 - 58,457,833 (+)NCBI
RefSeq Acc Id: XM_047438808   ⟹   XP_047294764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,451,796 - 58,457,833 (+)NCBI
RefSeq Acc Id: XM_047438809   ⟹   XP_047294765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,451,796 - 58,457,833 (+)NCBI
RefSeq Acc Id: XM_054320974   ⟹   XP_054176949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01961,547,593 - 61,553,798 (+)NCBI
RefSeq Acc Id: XM_054320975   ⟹   XP_054176950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01961,547,575 - 61,553,798 (+)NCBI
RefSeq Acc Id: XM_054320976   ⟹   XP_054176951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01961,514,353 - 61,553,798 (+)NCBI
RefSeq Acc Id: XM_054320977   ⟹   XP_054176952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01961,547,768 - 61,553,798 (+)NCBI
RefSeq Acc Id: XM_054320978   ⟹   XP_054176953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01961,547,768 - 61,553,798 (+)NCBI
RefSeq Acc Id: XM_054320979   ⟹   XP_054176954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01961,547,594 - 61,553,798 (+)NCBI
RefSeq Acc Id: NP_997278   ⟸   NM_207395
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005258972   ⟸   XM_005258915
- Peptide Label: isoform X1
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005258975   ⟸   XM_005258918
- Peptide Label: isoform X1
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000471122   ⟸   ENST00000598244
RefSeq Acc Id: ENSP00000473115   ⟸   ENST00000599193
RefSeq Acc Id: ENSP00000472178   ⟸   ENST00000599194
RefSeq Acc Id: ENSP00000438930   ⟸   ENST00000545523
RefSeq Acc Id: ENSP00000337473   ⟸   ENST00000336614
RefSeq Acc Id: ENSP00000471086   ⟸   ENST00000594214
RefSeq Acc Id: XP_047294763   ⟸   XM_047438807
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047294762   ⟸   XM_047438806
- Peptide Label: isoform X1
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047294764   ⟸   XM_047438808
- Peptide Label: isoform X1
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047294765   ⟸   XM_047438809
- Peptide Label: isoform X1
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054176951   ⟸   XM_054320976
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054176950   ⟸   XM_054320975
- Peptide Label: isoform X1
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054176949   ⟸   XM_054320974
- Peptide Label: isoform X1
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054176954   ⟸   XM_054320979
- Peptide Label: isoform X1
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054176952   ⟸   XM_054320977
- Peptide Label: isoform X1
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054176953   ⟸   XM_054320978
- Peptide Label: isoform X1
- UniProtKB: Q6ZMX8 (UniProtKB/Swiss-Prot),   Q6AW86 (UniProtKB/Swiss-Prot),   B2RTZ6 (UniProtKB/Swiss-Prot),   Q6ZS42 (UniProtKB/Swiss-Prot)
Protein Domains
KRAB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6AW86-F1-model_v2 AlphaFold Q6AW86 1-544 view protein structure

Promoters
RGD ID:13206001
Promoter ID:EPDNEW_H26582
Type:initiation region
Name:ZNF324B_1
Description:zinc finger protein 324B
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
GRCh381958,451,625 - 58,451,685EPDNEW
RGD ID:6796301
Promoter ID:HG_KWN:31244
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379190,   UC002QSU.1,   UC010EUQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361963,654,584 - 63,655,084 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33107 AgrOrtholog
COSMIC ZNF324B COSMIC
Ensembl Genes ENSG00000249471 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000336614 ENTREZGENE
  ENST00000336614.9 UniProtKB/Swiss-Prot
  ENST00000545523 ENTREZGENE
  ENST00000545523.5 UniProtKB/Swiss-Prot
  ENST00000594214.1 UniProtKB/TrEMBL
  ENST00000598244.5 UniProtKB/TrEMBL
  ENST00000599193.5 UniProtKB/TrEMBL
  ENST00000599194.5 UniProtKB/TrEMBL
Gene3D-CATH 6.10.140.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000249471 GTEx
HGNC ID HGNC:33107 ENTREZGENE
Human Proteome Map ZNF324B Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:388569 UniProtKB/Swiss-Prot
NCBI Gene 388569 ENTREZGENE
PANTHER KRAB DOMAIN C2H2 ZINC FINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER PROTEIN 747 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA162410082 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot
UniProt B2RTZ6 ENTREZGENE
  M0R090_HUMAN UniProtKB/TrEMBL
  M0R0B1_HUMAN UniProtKB/TrEMBL
  M0R1X9_HUMAN UniProtKB/TrEMBL
  M0R3B5_HUMAN UniProtKB/TrEMBL
  Q6AW86 ENTREZGENE
  Q6ZMX8 ENTREZGENE
  Q6ZS42 ENTREZGENE
  Z324B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RTZ6 UniProtKB/Swiss-Prot
  Q6ZMX8 UniProtKB/Swiss-Prot
  Q6ZS42 UniProtKB/Swiss-Prot