ZBTB45 (zinc finger and BTB domain containing 45) - Rat Genome Database

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Gene: ZBTB45 (zinc finger and BTB domain containing 45) Homo sapiens
Analyze
Symbol: ZBTB45
Name: zinc finger and BTB domain containing 45
RGD ID: 1322100
HGNC Page HGNC:23715
Description: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp547H249; FLJ14486; zinc finger and BTB domain-containing protein 45; zinc finger protein 499; ZNF499
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ZBTB45P1   ZBTB45P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381958,513,530 - 58,542,718 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1958,513,530 - 58,538,911 (-)EnsemblGRCh38hg38GRCh38
GRCh371959,024,897 - 59,054,085 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361963,716,709 - 63,722,733 (-)NCBINCBI36Build 36hg18NCBI36
Build 341963,716,708 - 63,722,733NCBI
Celera1956,069,007 - 56,075,032 (-)NCBICelera
Cytogenetic Map19q13.43NCBI
HuRef1955,335,330 - 55,341,356 (-)NCBIHuRef
CHM1_11959,018,859 - 59,024,884 (-)NCBICHM1_1
T2T-CHM13v2.01961,609,523 - 61,640,397 (-)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

Cellular Component
nucleoplasm  (IBA)
nucleus  (IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:16344560   PMID:21873635   PMID:26841866   PMID:28473536   PMID:32296183   PMID:33961781   PMID:34857952   PMID:35906200  


Genomics

Comparative Map Data
ZBTB45
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381958,513,530 - 58,542,718 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1958,513,530 - 58,538,911 (-)EnsemblGRCh38hg38GRCh38
GRCh371959,024,897 - 59,054,085 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361963,716,709 - 63,722,733 (-)NCBINCBI36Build 36hg18NCBI36
Build 341963,716,708 - 63,722,733NCBI
Celera1956,069,007 - 56,075,032 (-)NCBICelera
Cytogenetic Map19q13.43NCBI
HuRef1955,335,330 - 55,341,356 (-)NCBIHuRef
CHM1_11959,018,859 - 59,024,884 (-)NCBICHM1_1
T2T-CHM13v2.01961,609,523 - 61,640,397 (-)NCBIT2T-CHM13v2.0
Zbtb45
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39712,737,828 - 12,745,212 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl712,737,825 - 12,743,961 (-)EnsemblGRCm39 Ensembl
GRCm38713,005,666 - 13,010,047 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl713,003,898 - 13,010,034 (-)EnsemblGRCm38mm10GRCm38
MGSCv37713,591,015 - 13,595,149 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36711,905,845 - 11,909,979 (-)NCBIMGSCv36mm8
Celera710,632,818 - 10,636,948 (-)NCBICelera
Cytogenetic Map7A1NCBI
cM Map77.72NCBI
Zbtb45
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8182,707,633 - 82,712,926 (-)NCBIGRCr8
mRatBN7.2173,634,895 - 73,639,802 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl173,635,448 - 73,639,556 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx179,015,897 - 79,020,032 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0187,580,235 - 87,584,372 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0180,770,977 - 80,775,114 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0165,563,999 - 65,568,301 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl165,564,173 - 65,568,300 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0166,374,102 - 66,379,534 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4172,912,204 - 72,916,331 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1172,990,308 - 72,994,003 (+)NCBI
Celera160,199,904 - 60,204,031 (+)NCBICelera
Cytogenetic Map1q21NCBI
Zbtb45
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555841,126,657 - 1,130,975 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555841,126,657 - 1,131,471 (-)NCBIChiLan1.0ChiLan1.0
ZBTB45
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22064,789,694 - 64,797,741 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11966,577,566 - 66,585,673 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01955,521,921 - 55,528,275 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11964,344,098 - 64,351,140 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1964,344,098 - 64,348,236 (-)Ensemblpanpan1.1panPan2
ZBTB45
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1199,428,388 - 99,434,382 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl199,427,807 - 99,438,944 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha199,825,062 - 99,832,423 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01100,039,925 - 100,047,291 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1100,041,887 - 100,056,901 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1199,685,272 - 99,692,632 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0199,398,103 - 99,405,462 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01100,152,739 - 100,160,101 (+)NCBIUU_Cfam_GSD_1.0
Zbtb45
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,992,339 - 218,019,625 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493706296,868 - 104,303 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493706299,735 - 104,194 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZBTB45
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl663,076,104 - 63,079,443 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1663,076,546 - 63,082,949 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ZBTB45
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11413,335,910 - 13,338,412 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl650,794,432 - 50,798,084 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660806,339,842 - 6,354,533 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zbtb45
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462483256,210 - 78,711 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462483272,524 - 77,451 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZBTB45
38 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(chr19:49907832-58557889)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
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
NM_032792.2(ZBTB45):c.817C>T (p.Leu273Phe) single nucleotide variant Malignant melanoma [RCV000072429] Chr19:58516857 [GRCh38]
Chr19:59028224 [GRCh37]
Chr19:63720036 [NCBI36]
Chr19:19q13.43
not provided
NM_032792.2(ZBTB45):c.349G>A (p.Glu117Lys) single nucleotide variant Malignant melanoma [RCV000072430] Chr19:58517325 [GRCh38]
Chr19:59028692 [GRCh37]
Chr19:63720504 [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
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
GRCh37/hg19 19q13.43(chr19:58980667-59030618)x3 copy number gain See cases [RCV000445831] Chr19:58980667..59030618 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.1084C>T (p.Pro362Ser) single nucleotide variant Inborn genetic diseases [RCV003249803] Chr19:58516590 [GRCh38]
Chr19:59027957 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.1034C>T (p.Pro345Leu) single nucleotide variant Inborn genetic diseases [RCV003264938] Chr19:58516640 [GRCh38]
Chr19:59028007 [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_001316979.2(ZBTB45):c.763G>A (p.Glu255Lys) single nucleotide variant Inborn genetic diseases [RCV003267377] Chr19:58516911 [GRCh38]
Chr19:59028278 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.1064C>T (p.Ala355Val) single nucleotide variant Inborn genetic diseases [RCV003247982] Chr19:58516610 [GRCh38]
Chr19:59027977 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.821G>A (p.Arg274Gln) single nucleotide variant Inborn genetic diseases [RCV003251257] Chr19:58516853 [GRCh38]
Chr19:59028220 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.1065G>A (p.Ala355=) single nucleotide variant not provided [RCV000961672] Chr19:58516609 [GRCh38]
Chr19:59027976 [GRCh37]
Chr19:19q13.43
benign
NM_001316979.2(ZBTB45):c.496G>A (p.Gly166Ser) single nucleotide variant Inborn genetic diseases [RCV002859859] Chr19:58517178 [GRCh38]
Chr19:59028545 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.1186C>T (p.Pro396Ser) single nucleotide variant Inborn genetic diseases [RCV002991237] Chr19:58516488 [GRCh38]
Chr19:59027855 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.478C>G (p.Arg160Gly) single nucleotide variant Inborn genetic diseases [RCV002818224] Chr19:58517196 [GRCh38]
Chr19:59028563 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.939A>G (p.Ile313Met) single nucleotide variant Inborn genetic diseases [RCV002776632] Chr19:58516735 [GRCh38]
Chr19:59028102 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.946G>A (p.Gly316Arg) single nucleotide variant Inborn genetic diseases [RCV002980883] Chr19:58516728 [GRCh38]
Chr19:59028095 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.370C>T (p.Arg124Cys) single nucleotide variant Inborn genetic diseases [RCV002976875] Chr19:58517304 [GRCh38]
Chr19:59028671 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.440C>T (p.Ala147Val) single nucleotide variant Inborn genetic diseases [RCV002977022] Chr19:58517234 [GRCh38]
Chr19:59028601 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.512G>A (p.Arg171His) single nucleotide variant Inborn genetic diseases [RCV002870621] Chr19:58517162 [GRCh38]
Chr19:59028529 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.1163C>T (p.Pro388Leu) single nucleotide variant Inborn genetic diseases [RCV002802799] Chr19:58516511 [GRCh38]
Chr19:59027878 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.298C>G (p.Leu100Val) single nucleotide variant Inborn genetic diseases [RCV002850731] Chr19:58517376 [GRCh38]
Chr19:59028743 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.889G>A (p.Ala297Thr) single nucleotide variant Inborn genetic diseases [RCV002640934] Chr19:58516785 [GRCh38]
Chr19:59028152 [GRCh37]
Chr19:19q13.43
likely benign
NM_001316979.2(ZBTB45):c.604G>T (p.Ala202Ser) single nucleotide variant Inborn genetic diseases [RCV002712944] Chr19:58517070 [GRCh38]
Chr19:59028437 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.532C>T (p.Arg178Cys) single nucleotide variant Inborn genetic diseases [RCV002697058] Chr19:58517142 [GRCh38]
Chr19:59028509 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.4G>A (p.Ala2Thr) single nucleotide variant Inborn genetic diseases [RCV002813492] Chr19:58517670 [GRCh38]
Chr19:59029037 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.1309T>C (p.Trp437Arg) single nucleotide variant Inborn genetic diseases [RCV002807493] Chr19:58514281 [GRCh38]
Chr19:59025648 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.5C>T (p.Ala2Val) single nucleotide variant Inborn genetic diseases [RCV002725076] Chr19:58517669 [GRCh38]
Chr19:59029036 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.1225C>T (p.Arg409Cys) single nucleotide variant Inborn genetic diseases [RCV003279490] Chr19:58516449 [GRCh38]
Chr19:59027816 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.898G>A (p.Glu300Lys) single nucleotide variant Inborn genetic diseases [RCV003212938] Chr19:58516776 [GRCh38]
Chr19:59028143 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.272C>T (p.Ser91Leu) single nucleotide variant Inborn genetic diseases [RCV003218322] Chr19:58517402 [GRCh38]
Chr19:59028769 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.625G>A (p.Glu209Lys) single nucleotide variant Inborn genetic diseases [RCV003208932] Chr19:58517049 [GRCh38]
Chr19:59028416 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.1398G>C (p.Lys466Asn) single nucleotide variant Inborn genetic diseases [RCV003360228] Chr19:58514192 [GRCh38]
Chr19:59025559 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.155C>T (p.Ala52Val) single nucleotide variant Inborn genetic diseases [RCV003372350] Chr19:58517519 [GRCh38]
Chr19:59028886 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.1118A>T (p.Gln373Leu) single nucleotide variant Inborn genetic diseases [RCV003378234] Chr19:58516556 [GRCh38]
Chr19:59027923 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.208C>T (p.Arg70Cys) single nucleotide variant Inborn genetic diseases [RCV003362299] Chr19:58517466 [GRCh38]
Chr19:59028833 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.830G>A (p.Gly277Glu) single nucleotide variant Inborn genetic diseases [RCV003371262] Chr19:58516844 [GRCh38]
Chr19:59028211 [GRCh37]
Chr19:19q13.43
uncertain significance
NM_001316979.2(ZBTB45):c.645C>T (p.Asp215=) single nucleotide variant not provided [RCV003884903] Chr19:58517029 [GRCh38]
Chr19:59028396 [GRCh37]
Chr19:19q13.43
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1701
Count of miRNA genes:599
Interacting mature miRNAs:678
Transcripts:ENST00000354590, ENST00000594051, ENST00000596739, ENST00000600130, ENST00000600990
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-57775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371959,024,932 - 59,025,204UniSTSGRCh37
Build 361963,716,744 - 63,717,016RGDNCBI36
Celera1956,069,042 - 56,069,314RGD
Cytogenetic Map19q13.43UniSTS
HuRef1955,335,365 - 55,335,637UniSTS
TNG Radiation Hybrid Map1923410.0UniSTS


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 1135 668 73 542 35 2853 665 1605 163 905 990 51 329 1814 2
Low 1165 1841 1056 550 1392 429 1502 1527 2115 255 546 618 122 1 875 974 2 1
Below cutoff 3 10 1 14 1 1 6 1 6 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001316978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001316979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001316980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001316981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001316982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX882156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024738 (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
  DA394169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA649936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB043101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR158681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY023937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY070267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000354590   ⟹   ENSP00000346603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,513,530 - 58,519,554 (-)Ensembl
RefSeq Acc Id: ENST00000594051   ⟹   ENSP00000469089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,513,530 - 58,519,810 (-)Ensembl
RefSeq Acc Id: ENST00000596739   ⟹   ENSP00000471885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,517,623 - 58,519,559 (-)Ensembl
RefSeq Acc Id: ENST00000600130   ⟹   ENSP00000470316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,517,309 - 58,538,911 (-)Ensembl
RefSeq Acc Id: ENST00000600990   ⟹   ENSP00000473072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1958,513,566 - 58,519,751 (-)Ensembl
RefSeq Acc Id: NM_001316978   ⟹   NP_001303907
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,513,530 - 58,519,602 (-)NCBI
CHM1_11959,018,859 - 59,024,889 (-)NCBI
T2T-CHM13v2.01961,609,523 - 61,615,596 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001316979   ⟹   NP_001303908
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,513,530 - 58,519,810 (-)NCBI
CHM1_11959,018,859 - 59,025,339 (-)NCBI
T2T-CHM13v2.01961,609,523 - 61,615,804 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001316980   ⟹   NP_001303909
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,513,530 - 58,542,718 (-)NCBI
CHM1_11959,018,859 - 59,046,912 (-)NCBI
T2T-CHM13v2.01961,609,523 - 61,640,397 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001316981   ⟹   NP_001303910
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,513,530 - 58,519,810 (-)NCBI
CHM1_11959,018,859 - 59,025,339 (-)NCBI
T2T-CHM13v2.01961,609,523 - 61,615,804 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001316982   ⟹   NP_001303911
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,513,530 - 58,538,911 (-)NCBI
CHM1_11959,018,859 - 59,044,147 (-)NCBI
T2T-CHM13v2.01961,609,523 - 61,634,802 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032792   ⟹   NP_116181
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,513,530 - 58,519,602 (-)NCBI
GRCh371959,024,897 - 59,031,845 (-)NCBI
Build 361963,716,709 - 63,722,733 (-)NCBI Archive
Celera1956,069,007 - 56,075,032 (-)RGD
HuRef1955,335,330 - 55,341,356 (-)ENTREZGENE
CHM1_11959,018,859 - 59,024,889 (-)NCBI
T2T-CHM13v2.01961,609,523 - 61,615,596 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006723445   ⟹   XP_006723508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381958,513,530 - 58,519,602 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054322426   ⟹   XP_054178401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01961,609,523 - 61,615,612 (-)NCBI
RefSeq Acc Id: NP_116181   ⟸   NM_032792
- UniProtKB: Q96K62 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006723508   ⟸   XM_006723445
- Peptide Label: isoform X1
- UniProtKB: Q96K62 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001303909   ⟸   NM_001316980
- UniProtKB: Q96K62 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001303911   ⟸   NM_001316982
- UniProtKB: Q96K62 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001303908   ⟸   NM_001316979
- UniProtKB: Q96K62 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001303910   ⟸   NM_001316981
- UniProtKB: Q96K62 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001303907   ⟸   NM_001316978
- UniProtKB: Q96K62 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000471885   ⟸   ENST00000596739
RefSeq Acc Id: ENSP00000470316   ⟸   ENST00000600130
RefSeq Acc Id: ENSP00000473072   ⟸   ENST00000600990
RefSeq Acc Id: ENSP00000346603   ⟸   ENST00000354590
RefSeq Acc Id: ENSP00000469089   ⟸   ENST00000594051
RefSeq Acc Id: XP_054178401   ⟸   XM_054322426
- Peptide Label: isoform X1
- UniProtKB: Q96K62 (UniProtKB/Swiss-Prot)
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96K62-F1-model_v2 AlphaFold Q96K62 1-511 view protein structure

Promoters
RGD ID:13206013
Promoter ID:EPDNEW_H26587
Type:initiation region
Name:ZBTB45_1
Description:zinc finger and BTB domain containing 45
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
GRCh381958,519,559 - 58,519,619EPDNEW
RGD ID:6811830
Promoter ID:HG_ACW:42866
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:ZBTB45.EAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361963,717,149 - 63,717,649 (-)MPROMDB
RGD ID:6814671
Promoter ID:HG_XEF:4314
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   NB4
Transcripts:NM_001091311,   NM_205706
Position:
Human AssemblyChrPosition (strand)Source
Build 361963,721,534 - 63,722,034 (-)MPROMDB
RGD ID:6796245
Promoter ID:HG_KWN:31250
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032792,   UC002QTE.1,   UC002QTF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361963,722,456 - 63,723,262 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23715 AgrOrtholog
COSMIC ZBTB45 COSMIC
Ensembl Genes ENSG00000119574 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000354590 ENTREZGENE
  ENST00000354590.7 UniProtKB/Swiss-Prot
  ENST00000594051 ENTREZGENE
  ENST00000594051.6 UniProtKB/Swiss-Prot
  ENST00000596739.1 UniProtKB/TrEMBL
  ENST00000600130.1 UniProtKB/TrEMBL
  ENST00000600990 ENTREZGENE
  ENST00000600990.1 UniProtKB/Swiss-Prot
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000119574 GTEx
HGNC ID HGNC:23715 ENTREZGENE
Human Proteome Map ZBTB45 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:84878 UniProtKB/Swiss-Prot
NCBI Gene 84878 ENTREZGENE
PANTHER AGAP004733-PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZGC:76872 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA162409464 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot
UniProt M0QZ57_HUMAN UniProtKB/TrEMBL
  M0R1I4_HUMAN UniProtKB/TrEMBL
  Q96K62 ENTREZGENE, UniProtKB/Swiss-Prot