ZNF471 (zinc finger protein 471) - Rat Genome Database

Send us a Message



Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Grant Resources Citing RGD About Us Contact Us
Search by Genomic Position Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quantitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ZNF471 (zinc finger protein 471) Homo sapiens
Analyze
Symbol: ZNF471
Name: zinc finger protein 471
RGD ID: 1350704
HGNC Page HGNC:23226
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. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ERP1; EZFIT-related protein 1; KIAA1396; MGC150657; MGC150658; Z1971; Zfp78
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
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
GRCh381956,507,855 - 56,530,212 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1956,507,730 - 56,530,276 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh371957,019,224 - 57,041,581 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361961,711,024 - 61,732,082 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341961,711,023 - 61,732,079NCBI
Celera1954,062,199 - 54,083,259 (+)NCBICelera
Cytogenetic Map19q13.43NCBI
HuRef1953,329,184 - 53,350,211 (+)NCBIHuRef
CHM1_11957,012,840 - 57,033,893 (+)NCBICHM1_1
T2T-CHM13v2.01959,602,138 - 59,624,646 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleoplasm  (IDA,IEA)
nucleus  (IBA,IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
4. 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:10718198   PMID:11076863   PMID:11230166   PMID:11256614   PMID:15057824   PMID:15489334   PMID:15489336   PMID:16189514   PMID:16381901   PMID:21873635   PMID:25416956   PMID:26871637  
PMID:27107014   PMID:28255813   PMID:29610526   PMID:31515488   PMID:33203470   PMID:35140242   PMID:35384245   PMID:38169650   PMID:38749608  


Genomics

Comparative Map Data
ZNF471
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381956,507,855 - 56,530,212 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1956,507,730 - 56,530,276 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh371957,019,224 - 57,041,581 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361961,711,024 - 61,732,082 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341961,711,023 - 61,732,079NCBI
Celera1954,062,199 - 54,083,259 (+)NCBICelera
Cytogenetic Map19q13.43NCBI
HuRef1953,329,184 - 53,350,211 (+)NCBIHuRef
CHM1_11957,012,840 - 57,033,893 (+)NCBICHM1_1
T2T-CHM13v2.01959,602,138 - 59,624,646 (+)NCBIT2T-CHM13v2.0
Zfp78
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3976,365,812 - 6,385,605 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl76,366,279 - 6,385,604 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm3876,362,809 - 6,382,606 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl76,363,280 - 6,382,605 (+)EnsemblGRCm38.p6 Ensemblmm10GRCm38
MGSCv3776,316,015 - 6,335,315 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv3675,967,500 - 5,986,607 (+)NCBIMGSCv36mm8
Celera76,093,158 - 6,112,595 (+)NCBICelera
Cytogenetic Map7A1NCBI
cM Map73.69NCBI
Zfp78
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8176,543,519 - 76,558,052 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl176,543,519 - 76,557,828 (-)EnsemblGRCr8
mRatBN7.2167,508,627 - 67,524,972 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl167,494,544 - 67,524,881 (-)EnsemblmRatBN7.2
Dahl_SR_JrHsd175,905,485 - 75,919,951 (-)NCBI
Lyon_Normotensive179,815,720 - 79,830,171 (-)NCBI
Lyon_Hypertensive177,531,678 - 77,546,125 (-)NCBI
F344_StmMcwi174,720,859 - 74,735,325 (-)NCBI
Rnor_6.0171,183,115 - 71,196,978 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl171,183,171 - 71,190,423 (-)EnsemblRnor_6.0 Ensemblrn6Rnor6.0
RGSC_v3.4165,935,591 - 65,943,189 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera165,254,527 - 65,270,952 (-)NCBICelera
Cytogenetic Map1q12NCBI
ZNF471
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22062,794,460 - 62,817,146 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11964,585,967 - 64,607,827 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01953,532,255 - 53,554,846 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11962,297,288 - 62,348,730 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1962,326,353 - 62,348,724 (+)EnsemblPanPan1.1 EnsemblpanPan2panpan1.1
LOC119863933
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1101,671,154 - 101,683,878 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01102,130,224 - 102,143,692 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
UMICH_Zoey_3.11101,769,573 - 101,783,041 (-)NCBIUMICH_Zoey_3.1
ZNF471
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl660,789,561 - 60,802,097 (+)EnsemblSscrofa11.1 EnsemblsusScr11Sscrofa11.1
Sscrofa11.1660,783,564 - 60,802,289 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2656,025,583 - 56,043,689 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF471
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mChlSab1.0.hap161,884,826 - 1,908,782 (-)NCBImChlSab1.0.hap1
Vero_WHO_p1.0NW_0236660452,050,685 - 2,081,346 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
ChlSab1.1649,044,098 - 49,069,129 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl649,050,920 - 49,070,547 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM

Variants

.
Variants in ZNF471
63 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 Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000050883] Chr19:19q13.33-13.43 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000052925] Chr19:19q13.33-13.43 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:19q13.41-13.43 pathogenic
GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000052927] Chr19:19q13.43 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000052914] Chr19:19q13.33-13.43 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain Failure to thrive [RCV000052915] Chr19:19q13.33-13.43 pathogenic
NM_020813.2(ZNF471):c.357C>T (p.Ser119=) single nucleotide variant Malignant melanoma [RCV000072397] Chr19:56524424 [GRCh38]
Chr19:57035793 [GRCh37]
Chr19:61727605 [NCBI36]
Chr19:19q13.43		 not provided
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 copy number gain See cases [RCV000134174] Chr19:19q13.41-13.43 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 copy number gain See cases [RCV000134139] Chr19:19q13.41-13.43 pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1 copy number loss See cases [RCV000135287] Chr19:19q13.42-13.43 likely pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain Abnormal facial shape [RCV000135843] Chr19:19q13.33-13.43 pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3 copy number gain Generalized hypotonia [RCV000138139] Chr19:19q13.42-13.43 likely pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 copy number gain See cases [RCV000142008] Chr19:19q13.41-13.43 pathogenic
GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3 copy number gain See cases [RCV000141900] Chr19:19q13.43 uncertain significance
GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3 copy number gain See cases [RCV000142245] Chr19:19q13.42-13.43 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1 copy number loss Breast ductal adenocarcinoma [RCV000207313] Chr19:56200298..57654005 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
chr19:56133299..57648277 complex variant complex Breast ductal adenocarcinoma [RCV000207023] Chr19:56133299..57648277 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:19q13.33-13.43 pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3 copy number gain See cases [RCV000448186] Chr19:54344821..58956888 [GRCh37]
Chr19:19q13.42-13.43		 pathogenic
GRCh37/hg19 19q13.43(chr19:56874577-57183789)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000448660] Chr19:19q13.43 uncertain significance
GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3 copy number gain Autism [RCV000512396] Chr19:19q13.43 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3 copy number gain Incoordination [RCV000511123] Chr19:19q13.42-13.43 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3 copy number gain Hemolytic anemia [RCV000510179] Chr19:19q13.42-13.43 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain Ventricular septal defect [RCV000511289] Chr19:19p13.3-q13.43 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain Abnormality of the ear [RCV000512296] Chr19:19p13.3-q13.43 pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3 copy number gain Global developmental delay [RCV000510290] Chr19:19q13.42-13.43 uncertain significance
GRCh37/hg19 19q13.43(chr19:56565455-57401997)x1 copy number loss not provided [RCV000684087] Chr19:19q13.43 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3 copy number gain not provided [RCV000684095] Chr19:19q13.42-13.43 pathogenic
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_020813.4(ZNF471):c.1120C>A (p.Pro374Thr) single nucleotide variant not specified [RCV004301186] Chr19:56525187 [GRCh38]
Chr19:57036556 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19q13.43(chr19:56788816-57277655)x3 copy number gain not provided [RCV001007062] Chr19:19q13.43 likely benign|uncertain significance
NM_020813.4(ZNF471):c.1163T>C (p.Ile388Thr) single nucleotide variant not specified [RCV005521354] Chr19:56525230 [GRCh38]
Chr19:57036599 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:19q13.33-13.43 pathogenic
GRCh37/hg19 19q13.43(chr19:56792817-57074724)x3 copy number gain not provided [RCV001259951] Chr19:19q13.43 uncertain significance
GRCh37/hg19 19q13.43(chr19:56332200-57126728) copy number gain not specified [RCV002052691] Chr19:19q13.43 uncertain significance
NM_020813.4(ZNF471):c.1256C>T (p.Thr419Ile) single nucleotide variant not specified [RCV005521352] Chr19:56525323 [GRCh38]
Chr19:57036692 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.36C>G (p.Asp12Glu) single nucleotide variant not specified [RCV005521359] Chr19:56516277 [GRCh38]
Chr19:57027646 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.683A>C (p.His228Pro) single nucleotide variant not specified [RCV004097602] Chr19:56524750 [GRCh38]
Chr19:57036119 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1259T>C (p.Val420Ala) single nucleotide variant not specified [RCV004095782] Chr19:56525326 [GRCh38]
Chr19:57036695 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.722A>C (p.Lys241Thr) single nucleotide variant not specified [RCV004174243] Chr19:56524789 [GRCh38]
Chr19:57036158 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1236C>G (p.Phe412Leu) single nucleotide variant not specified [RCV004245262] Chr19:56525303 [GRCh38]
Chr19:57036672 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.770C>A (p.Thr257Asn) single nucleotide variant not specified [RCV004206111] Chr19:56524837 [GRCh38]
Chr19:57036206 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.432A>T (p.Lys144Asn) single nucleotide variant not specified [RCV004206445] Chr19:56524499 [GRCh38]
Chr19:57035868 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.742C>T (p.His248Tyr) single nucleotide variant not specified [RCV004069309] Chr19:56524809 [GRCh38]
Chr19:57036178 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.627T>G (p.Asn209Lys) single nucleotide variant not specified [RCV004190848] Chr19:56524694 [GRCh38]
Chr19:57036063 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1120C>G (p.Pro374Ala) single nucleotide variant not specified [RCV004245885] Chr19:56525187 [GRCh38]
Chr19:57036556 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.791G>A (p.Cys264Tyr) single nucleotide variant not specified [RCV004127594] Chr19:56524858 [GRCh38]
Chr19:57036227 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1052G>C (p.Cys351Ser) single nucleotide variant not specified [RCV004194313] Chr19:56525119 [GRCh38]
Chr19:57036488 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1774C>G (p.Leu592Val) single nucleotide variant not specified [RCV004219798] Chr19:56525841 [GRCh38]
Chr19:57037210 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1624C>T (p.Pro542Ser) single nucleotide variant not specified [RCV004133575] Chr19:56525691 [GRCh38]
Chr19:57037060 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1856G>T (p.Arg619Ile) single nucleotide variant not specified [RCV004176012] Chr19:56525923 [GRCh38]
Chr19:57037292 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.874T>C (p.Cys292Arg) single nucleotide variant not specified [RCV006669929] Chr19:56524941 [GRCh38]
Chr19:57036310 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1796A>G (p.Tyr599Cys) single nucleotide variant not specified [RCV006359908] Chr19:56525863 [GRCh38]
Chr19:57037232 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.89G>C (p.Trp30Ser) single nucleotide variant not specified [RCV006359910] Chr19:56516330 [GRCh38]
Chr19:57027699 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.631T>C (p.Cys211Arg) single nucleotide variant not specified [RCV006359912] Chr19:56524698 [GRCh38]
Chr19:57036067 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1296A>T (p.Glu432Asp) single nucleotide variant not specified [RCV006359913] Chr19:56525363 [GRCh38]
Chr19:57036732 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1268G>A (p.Arg423Lys) single nucleotide variant not specified [RCV004253545] Chr19:56525335 [GRCh38]
Chr19:57036704 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1139G>A (p.Cys380Tyr) single nucleotide variant not specified [RCV004277787] Chr19:56525206 [GRCh38]
Chr19:57036575 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.892G>A (p.Ala298Thr) single nucleotide variant not specified [RCV004269861] Chr19:56524959 [GRCh38]
Chr19:57036328 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1076C>T (p.Thr359Ile) single nucleotide variant not specified [RCV006658422] Chr19:56525143 [GRCh38]
Chr19:57036512 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1297T>C (p.Cys433Arg) single nucleotide variant not specified [RCV004263749] Chr19:56525364 [GRCh38]
Chr19:57036733 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1550G>A (p.Cys517Tyr) single nucleotide variant not specified [RCV004334027] Chr19:56525617 [GRCh38]
Chr19:57036986 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.703G>A (p.Ala235Thr) single nucleotide variant not specified [RCV005521350] Chr19:56524770 [GRCh38]
Chr19:57036139 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1288C>T (p.Pro430Ser) single nucleotide variant not specified [RCV006677427] Chr19:56525355 [GRCh38]
Chr19:57036724 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.982A>G (p.Ser328Gly) single nucleotide variant not specified [RCV004278312] Chr19:56525049 [GRCh38]
Chr19:57036418 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.161-14T>G single nucleotide variant Uveal melanoma [RCV006150054] Chr19:56518468 [GRCh38]
Chr19:57029837 [GRCh37]
Chr19:19q13.43		 evidence_only
NM_020813.4(ZNF471):c.1589T>C (p.Leu530Pro) single nucleotide variant not specified [RCV006359909] Chr19:56525656 [GRCh38]
Chr19:57037025 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.257-8T>A single nucleotide variant Uterine carcinosarcoma [RCV006150056] Chr19:56524316 [GRCh38]
Chr19:57035685 [GRCh37]
Chr19:19q13.43		 evidence_only
GRCh37/hg19 19q13.43(chr19:56933864-57242552)x1 copy number loss not provided [RCV006436493] Chr19:19q13.43 uncertain significance
NM_020813.4(ZNF471):c.523G>C (p.Glu175Gln) single nucleotide variant not specified [RCV006359911] Chr19:56524590 [GRCh38]
Chr19:57035959 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1873G>A (p.Glu625Lys) single nucleotide variant not specified [RCV006359906] Chr19:56525940 [GRCh38]
Chr19:57037309 [GRCh37]
Chr19:19q13.43		 likely benign
NM_020813.4(ZNF471):c.1301A>G (p.Asp434Gly) single nucleotide variant not specified [RCV006359907] Chr19:56525368 [GRCh38]
Chr19:57036737 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.219G>T (p.Trp73Cys) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006150055] Chr19:56518540 [GRCh38]
Chr19:57029909 [GRCh37]
Chr19:19q13.43		 evidence_only
NM_020813.4(ZNF471):c.110G>A (p.Arg37His) single nucleotide variant not specified [RCV005783290] Chr19:56516351 [GRCh38]
Chr19:57027720 [GRCh37]
Chr19:19q13.43		 likely benign
NM_020813.4(ZNF471):c.1271T>G (p.Ile424Ser) single nucleotide variant not specified [RCV005771808] Chr19:56525338 [GRCh38]
Chr19:57036707 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.618T>A (p.Phe206Leu) single nucleotide variant not specified [RCV005783291] Chr19:56524685 [GRCh38]
Chr19:57036054 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1409A>G (p.Gln470Arg) single nucleotide variant not specified [RCV005783292] Chr19:56525476 [GRCh38]
Chr19:57036845 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.612G>C (p.Lys204Asn) single nucleotide variant not specified [RCV005771809] Chr19:56524679 [GRCh38]
Chr19:57036048 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.715T>C (p.Cys239Arg) single nucleotide variant not specified [RCV005783293] Chr19:56524782 [GRCh38]
Chr19:57036151 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1000G>T (p.Ala334Ser) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006150058] Chr19:56525067 [GRCh38]
Chr19:57036436 [GRCh37]
Chr19:19q13.43		 evidence_only
NM_020813.4(ZNF471):c.62T>C (p.Ile21Thr) single nucleotide variant not specified [RCV005783288] Chr19:56516303 [GRCh38]
Chr19:57027672 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1213T>C (p.Cys405Arg) single nucleotide variant not specified [RCV005783294] Chr19:56525280 [GRCh38]
Chr19:57036649 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.500G>A (p.Cys167Tyr) single nucleotide variant not specified [RCV004354763] Chr19:56524567 [GRCh38]
Chr19:57035936 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.-55-3C>T single nucleotide variant Familial cancer of breast [RCV006150053] Chr19:56511514 [GRCh38]
Chr19:57022883 [GRCh37]
Chr19:19q13.43		 evidence_only
NM_020813.4(ZNF471):c.479A>G (p.Lys160Arg) single nucleotide variant not specified [RCV005521357] Chr19:56524546 [GRCh38]
Chr19:57035915 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.595G>C (p.Val199Leu) single nucleotide variant not specified [RCV006671105] Chr19:56524662 [GRCh38]
Chr19:57036031 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1153A>G (p.Ser385Gly) single nucleotide variant not specified [RCV004358042] Chr19:56525220 [GRCh38]
Chr19:57036589 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:19q13.33-13.43 pathogenic|likely pathogenic
GRCh37/hg19 19q13.43(chr19:56949121-57419586)x3 copy number gain not provided [RCV003485202] Chr19:19q13.43 uncertain significance
NM_020813.4(ZNF471):c.1548A>G (p.Glu516=) single nucleotide variant not provided [RCV003425453] Chr19:56525615 [GRCh38]
Chr19:57036984 [GRCh37]
Chr19:19q13.43		 likely benign
NM_020813.4(ZNF471):c.1423G>C (p.Val475Leu) single nucleotide variant not provided [RCV003425452] Chr19:56525490 [GRCh38]
Chr19:57036859 [GRCh37]
Chr19:19q13.43		 likely benign
NM_020813.4(ZNF471):c.926A>G (p.Gln309Arg) single nucleotide variant not provided [RCV003415471] Chr19:56524993 [GRCh38]
Chr19:57036362 [GRCh37]
Chr19:19q13.43		 likely benign
GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1 copy number loss not specified [RCV003986104] Chr19:19q13.42-13.43 uncertain significance
NM_020813.4(ZNF471):c.1241C>T (p.Ser414Leu) single nucleotide variant not specified [RCV004491908] Chr19:56525308 [GRCh38]
Chr19:57036677 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1265A>C (p.Gln422Pro) single nucleotide variant not specified [RCV004491909] Chr19:56525332 [GRCh38]
Chr19:57036701 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1682A>G (p.His561Arg) single nucleotide variant not specified [RCV004491911] Chr19:56525749 [GRCh38]
Chr19:57037118 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1837T>C (p.Ser613Pro) single nucleotide variant not specified [RCV004491912] Chr19:56525904 [GRCh38]
Chr19:57037273 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.749C>T (p.Ala250Val) single nucleotide variant not specified [RCV004491915] Chr19:56524816 [GRCh38]
Chr19:57036185 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1205C>T (p.Pro402Leu) single nucleotide variant not specified [RCV004491907] Chr19:56525272 [GRCh38]
Chr19:57036641 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.214C>A (p.Pro72Thr) single nucleotide variant not specified [RCV004491913] Chr19:56518535 [GRCh38]
Chr19:57029904 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1631A>C (p.Glu544Ala) single nucleotide variant not specified [RCV004491910] Chr19:56525698 [GRCh38]
Chr19:57037067 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1193C>G (p.Thr398Arg) single nucleotide variant not specified [RCV004489839] Chr19:56525260 [GRCh38]
Chr19:57036629 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1004G>A (p.Arg335Gln) single nucleotide variant not specified [RCV004489837] Chr19:56525071 [GRCh38]
Chr19:57036440 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1067G>T (p.Arg356Met) single nucleotide variant not specified [RCV004489838] Chr19:56525134 [GRCh38]
Chr19:57036503 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1781C>T (p.Thr594Ile) single nucleotide variant not specified [RCV004614609] Chr19:56525848 [GRCh38]
Chr19:57037217 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.306G>C (p.Met102Ile) single nucleotide variant not specified [RCV004614610] Chr19:56524373 [GRCh38]
Chr19:57035742 [GRCh37]
Chr19:19q13.43		 likely benign
NM_020813.4(ZNF471):c.1676C>A (p.Thr559Asn) single nucleotide variant not specified [RCV004605277] Chr19:56525743 [GRCh38]
Chr19:57037112 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.389T>A (p.Leu130His) single nucleotide variant not specified [RCV004886263] Chr19:56524456 [GRCh38]
Chr19:57035825 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1253G>A (p.Arg418His) single nucleotide variant not specified [RCV004886260] Chr19:56525320 [GRCh38]
Chr19:57036689 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.125T>A (p.Met42Lys) single nucleotide variant not specified [RCV004886265] Chr19:56516366 [GRCh38]
Chr19:57027735 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.967T>C (p.Cys323Arg) single nucleotide variant not specified [RCV004886266] Chr19:56525034 [GRCh38]
Chr19:57036403 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1300G>A (p.Asp434Asn) single nucleotide variant not specified [RCV004886270] Chr19:56525367 [GRCh38]
Chr19:57036736 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1510A>G (p.Thr504Ala) single nucleotide variant not specified [RCV004886262] Chr19:56525577 [GRCh38]
Chr19:57036946 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1244G>A (p.Gly415Asp) single nucleotide variant not specified [RCV004886264] Chr19:56525311 [GRCh38]
Chr19:57036680 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.953A>G (p.Tyr318Cys) single nucleotide variant not specified [RCV004886259] Chr19:56525020 [GRCh38]
Chr19:57036389 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.574A>G (p.Met192Val) single nucleotide variant not specified [RCV004886268] Chr19:56524641 [GRCh38]
Chr19:57036010 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.821G>A (p.Ser274Asn) single nucleotide variant not specified [RCV004886269] Chr19:56524888 [GRCh38]
Chr19:57036257 [GRCh37]
Chr19:19q13.43		 likely benign
NM_020813.4(ZNF471):c.1536G>C (p.Glu512Asp) single nucleotide variant not specified [RCV004886261] Chr19:56525603 [GRCh38]
Chr19:57036972 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1289C>T (p.Pro430Leu) single nucleotide variant not specified [RCV004886267] Chr19:56525356 [GRCh38]
Chr19:57036725 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.582A>G (p.Ile194Met) single nucleotide variant not specified [RCV005309244] Chr19:56524649 [GRCh38]
Chr19:57036018 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.744C>A (p.His248Gln) single nucleotide variant not specified [RCV005309242] Chr19:56524811 [GRCh38]
Chr19:57036180 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.984T>G (p.Ser328Arg) single nucleotide variant not specified [RCV005297541] Chr19:56525051 [GRCh38]
Chr19:57036420 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1052G>A (p.Cys351Tyr) single nucleotide variant not specified [RCV005297542] Chr19:56525119 [GRCh38]
Chr19:57036488 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.868T>C (p.Tyr290His) single nucleotide variant not specified [RCV005297543] Chr19:56524935 [GRCh38]
Chr19:57036304 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.856G>A (p.Gly286Arg) single nucleotide variant not specified [RCV005309243] Chr19:56524923 [GRCh38]
Chr19:57036292 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.454A>G (p.Thr152Ala) single nucleotide variant not specified [RCV005521355] Chr19:56524521 [GRCh38]
Chr19:57035890 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.976G>A (p.Ala326Thr) single nucleotide variant not specified [RCV005521356] Chr19:56525043 [GRCh38]
Chr19:57036412 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.172T>G (p.Ser58Ala) single nucleotide variant not specified [RCV005521358] Chr19:56518493 [GRCh38]
Chr19:57029862 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.958T>C (p.Cys320Arg) single nucleotide variant not specified [RCV005521360] Chr19:56525025 [GRCh38]
Chr19:57036394 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.109C>T (p.Arg37Cys) single nucleotide variant not specified [RCV005521351] Chr19:56516350 [GRCh38]
Chr19:57027719 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.1775T>G (p.Leu592Arg) single nucleotide variant not specified [RCV005521353] Chr19:56525842 [GRCh38]
Chr19:57037211 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.446A>G (p.His149Arg) single nucleotide variant not specified [RCV004491914] Chr19:56524513 [GRCh38]
Chr19:57035882 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_020813.4(ZNF471):c.799T>G (p.Cys267Gly) single nucleotide variant not specified [RCV004491916] Chr19:56524866 [GRCh38]
Chr19:57036235 [GRCh37]
Chr19:19q13.43		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3674
Count of miRNA genes:1038
Interacting mature miRNAs:1265
Transcripts:ENST00000308031, ENST00000591537, ENST00000591759, ENST00000593197
Prediction methods:Microtar, 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
598003684GWAS1722983_Hbody height QTL GWAS1722983 (human)3e-09body height195652573456525735Human
645173492GWAS3071972_Hsocial inhibition quality, attention deficit-hyperactivity disorder, substance abuse QTL GWAS3071972 (human)2e-08social inhibition quality, attention deficit-hyperactivity disorder, substance abuse195652573456525735Human
628999517GWAS2907746_Hbody height QTL GWAS2907746 (human)3e-12body height195652988856529889Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
628827866GWAS2736095_Hbody height QTL GWAS2736095 (human)4e-08body height195652573456525735Human
628860697GWAS2768926_Hheel bone mineral density, sex hormone-binding globulin measurement QTL GWAS2768926 (human)5e-13bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)195652573456525735Human
406979633GWAS628609_Hheel bone mineral density QTL GWAS628609 (human)7e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)195652573456525735Human
628868451GWAS2776680_Hsmoking initiation QTL GWAS2776680 (human)2e-09behavior trait (VT:0010442)195652573456525735Human
628698451GWAS2606680_Hbody height QTL GWAS2606680 (human)6e-10body height195652573456525735Human
645242409GWAS3135690_Hbody shape measurement QTL GWAS3135690 (human)3e-11body conformation trait (VT:1000000)195652573456525735Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
628847572GWAS2755801_Hsmoking initiation QTL GWAS2755801 (human)8e-11behavior trait (VT:0010442)195652573456525735Human

Markers in Region
D19S210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371957,019,539 - 57,019,883UniSTSGRCh37
GRCh371957,019,578 - 57,019,752UniSTSGRCh37
GRCh371957,019,539 - 57,019,707UniSTSGRCh37
Build 361961,711,351 - 61,711,519RGDNCBI36
Celera1954,062,565 - 54,062,739UniSTS
Celera1954,062,526 - 54,062,870UniSTS
Celera1954,062,526 - 54,062,694RGD
Cytogenetic Map19q13.43UniSTS
HuRef1953,329,512 - 53,329,676UniSTS
HuRef1953,329,512 - 53,329,852UniSTS
HuRef1953,329,551 - 53,329,721UniSTS
Marshfield Genetic Map19100.01RGD
Genethon Genetic Map19104.9UniSTS
TNG Radiation Hybrid Map1922261.0UniSTS
GeneMap99-GB4 RH Map19285.92UniSTS
Whitehead-RH Map19363.1UniSTS
Whitehead-YAC Contig Map19 UniSTS
G59638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371957,030,327 - 57,030,523UniSTSGRCh37
Build 361961,722,139 - 61,722,335RGDNCBI36
Celera1954,073,315 - 54,073,511RGD
Cytogenetic Map19q13.43UniSTS
HuRef1953,340,267 - 53,340,463UniSTS
TNG Radiation Hybrid Map1922298.0UniSTS
D19S210  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.43UniSTS
Marshfield Genetic Map19100.01UniSTS
Genethon Genetic Map19104.9UniSTS
Whitehead-RH Map19363.1UniSTS
Whitehead-YAC Contig Map19 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2433 2788 2251 4973 1720 2344 6 618 1732 459 2269 7074 6253 53 3734 1 851 1742 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001321768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF352026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI375847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM991696 (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

Ensembl Acc Id: ENST00000308031   ⟹   ENSP00000309161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,507,855 - 56,530,212 (+)Ensembl
Ensembl Acc Id: ENST00000591537   ⟹   ENSP00000466224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,507,730 - 56,530,221 (+)Ensembl
Ensembl Acc Id: ENST00000591759   ⟹   ENSP00000467570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,510,622 - 56,518,551 (+)Ensembl
Ensembl Acc Id: ENST00000593197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,510,097 - 56,526,021 (+)Ensembl
Ensembl Acc Id: ENST00000858150   ⟹   ENSP00000528209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,507,847 - 56,530,276 (+)Ensembl
Ensembl Acc Id: ENST00000858151   ⟹   ENSP00000528210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,507,847 - 56,530,276 (+)Ensembl
Ensembl Acc Id: ENST00000858152   ⟹   ENSP00000528211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,507,847 - 56,530,276 (+)Ensembl
Ensembl Acc Id: ENST00000858153   ⟹   ENSP00000528212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,509,675 - 56,530,276 (+)Ensembl
Ensembl Acc Id: ENST00000858154   ⟹   ENSP00000528213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,508,055 - 56,530,276 (+)Ensembl
Ensembl Acc Id: ENST00000858155   ⟹   ENSP00000528214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,510,490 - 56,530,276 (+)Ensembl
Ensembl Acc Id: ENST00000962931   ⟹   ENSP00000632990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,507,731 - 56,530,276 (+)Ensembl
Ensembl Acc Id: ENST00000962932   ⟹   ENSP00000632991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,507,730 - 56,530,276 (+)Ensembl
Ensembl Acc Id: ENST00000962933   ⟹   ENSP00000632992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,507,730 - 56,530,276 (+)Ensembl
Ensembl Acc Id: ENST00001139103   ⟹   ENSP00000806035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1956,507,730 - 56,530,276 (+)Ensembl
RefSeq Acc Id: NM_001321768   ⟹   NP_001308697
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381956,507,855 - 56,530,212 (+)NCBI
CHM1_11957,012,840 - 57,035,214 (+)NCBI
T2T-CHM13v2.01959,602,292 - 59,624,646 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020813   ⟹   NP_065864
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381956,507,855 - 56,530,212 (+)NCBI
GRCh371957,019,212 - 57,041,581 (+)NCBI
Build 361961,711,024 - 61,732,082 (+)NCBI Archive
Celera1954,062,199 - 54,083,259 (+)RGD
HuRef1953,329,184 - 53,350,211 (+)ENTREZGENE
CHM1_11957,012,840 - 57,035,214 (+)NCBI
T2T-CHM13v2.01959,602,292 - 59,624,646 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527148   ⟹   XP_011525450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381956,507,855 - 56,530,212 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439128   ⟹   XP_047295084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381956,507,855 - 56,530,212 (+)NCBI
RefSeq Acc Id: XM_047439129   ⟹   XP_047295085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381956,507,855 - 56,530,212 (+)NCBI
RefSeq Acc Id: XM_054321541   ⟹   XP_054177516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01959,602,138 - 59,624,646 (+)NCBI
RefSeq Acc Id: XM_054321542   ⟹   XP_054177517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01959,602,138 - 59,624,646 (+)NCBI
RefSeq Acc Id: XM_054321543   ⟹   XP_054177518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01959,602,417 - 59,624,646 (+)NCBI
RefSeq Acc Id: NP_065864   ⟸   NM_020813
- Peptide Label: isoform 1
- UniProtKB: Q8N3V1 (UniProtKB/Swiss-Prot),   Q08AD7 (UniProtKB/Swiss-Prot),   Q08AD6 (UniProtKB/Swiss-Prot),   O75260 (UniProtKB/Swiss-Prot),   B4DF32 (UniProtKB/Swiss-Prot),   Q9P2F1 (UniProtKB/Swiss-Prot),   Q9BX82 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525450   ⟸   XM_011527148
- Peptide Label: isoform X1
- UniProtKB: Q8N3V1 (UniProtKB/Swiss-Prot),   Q08AD7 (UniProtKB/Swiss-Prot),   Q08AD6 (UniProtKB/Swiss-Prot),   O75260 (UniProtKB/Swiss-Prot),   B4DF32 (UniProtKB/Swiss-Prot),   Q9P2F1 (UniProtKB/Swiss-Prot),   Q9BX82 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308697   ⟸   NM_001321768
- Peptide Label: isoform 2
- UniProtKB: Q9BX82 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000309161   ⟸   ENST00000308031
Ensembl Acc Id: ENSP00000466224   ⟸   ENST00000591537
Ensembl Acc Id: ENSP00000467570   ⟸   ENST00000591759
RefSeq Acc Id: XP_047295085   ⟸   XM_047439129
- Peptide Label: isoform X1
- UniProtKB: Q9BX82 (UniProtKB/Swiss-Prot),   Q8N3V1 (UniProtKB/Swiss-Prot),   Q08AD7 (UniProtKB/Swiss-Prot),   Q08AD6 (UniProtKB/Swiss-Prot),   O75260 (UniProtKB/Swiss-Prot),   B4DF32 (UniProtKB/Swiss-Prot),   Q9P2F1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047295084   ⟸   XM_047439128
- Peptide Label: isoform X1
- UniProtKB: Q9BX82 (UniProtKB/Swiss-Prot),   Q8N3V1 (UniProtKB/Swiss-Prot),   Q08AD7 (UniProtKB/Swiss-Prot),   Q08AD6 (UniProtKB/Swiss-Prot),   O75260 (UniProtKB/Swiss-Prot),   B4DF32 (UniProtKB/Swiss-Prot),   Q9P2F1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054177516   ⟸   XM_054321541
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177517   ⟸   XM_054321542
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177518   ⟸   XM_054321543
- Peptide Label: isoform X1
Ensembl Acc Id: ENSP00000528213   ⟸   ENST00000858154
Ensembl Acc Id: ENSP00000632991   ⟸   ENST00000962932
Ensembl Acc Id: ENSP00000632990   ⟸   ENST00000962931
Ensembl Acc Id: ENSP00000528212   ⟸   ENST00000858153
Ensembl Acc Id: ENSP00000528211   ⟸   ENST00000858152
Ensembl Acc Id: ENSP00000632992   ⟸   ENST00000962933
Ensembl Acc Id: ENSP00000528209   ⟸   ENST00000858150
Ensembl Acc Id: ENSP00000528214   ⟸   ENST00000858155
Ensembl Acc Id: ENSP00000528210   ⟸   ENST00000858151
Ensembl Acc Id: ENSP00000806035   ⟸   ENST00001139103
Protein Domains
KRAB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BX82-F1-model_v2 AlphaFold Q9BX82 1-626 view protein structure

Promoters
RGD ID:13205839
Promoter ID:EPDNEW_H26499
Type:initiation region
Name:ZNF471_3
Description:zinc finger protein 471
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26498  EPDNEW_H26500  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381956,507,753 - 56,507,813EPDNEW
RGD ID:13205837
Promoter ID:EPDNEW_H26500
Type:initiation region
Name:ZNF471_2
Description:zinc finger protein 471
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26498  EPDNEW_H26499  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381956,507,863 - 56,507,923EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23226 AgrOrtholog
COSMIC ZNF471 COSMIC
Ensembl Genes ENSG00000196263 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308031 ENTREZGENE
  ENST00000308031.10 UniProtKB/Swiss-Prot
  ENST00000591537.5 UniProtKB/Swiss-Prot
  ENST00000858150 ENTREZGENE
  ENST00000858150.1 UniProtKB/Swiss-Prot
  ENST00000858151.1 UniProtKB/Swiss-Prot
  ENST00000858152.1 UniProtKB/Swiss-Prot
  ENST00000858153.1 UniProtKB/Swiss-Prot
  ENST00000858154 ENTREZGENE
  ENST00000858154.1 UniProtKB/Swiss-Prot
  ENST00000858155 ENTREZGENE
  ENST00000858155.1 UniProtKB/Swiss-Prot
  ENST00000962931.1 UniProtKB/Swiss-Prot
  ENST00000962932.1 UniProtKB/Swiss-Prot
  ENST00000962933.1 UniProtKB/Swiss-Prot
Gene3D-CATH 6.10.140.140 UniProtKB/Swiss-Prot
  Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000196263 GTEx
HGNC ID HGNC:23226 ENTREZGENE
Human Proteome Map ZNF471 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot
  KRAB_dom_sf UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:57573 UniProtKB/Swiss-Prot
NCBI Gene 57573 ENTREZGENE
OMIM 620162 OMIM
PANTHER KRAB AND ZINC FINGER DOMAIN-CONTAINING UniProtKB/Swiss-Prot
  ZINC FINGER PROTEIN 737-LIKE-RELATED UniProtKB/Swiss-Prot
Pfam KRAB UniProtKB/Swiss-Prot
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA134940750 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART KRAB UniProtKB/Swiss-Prot
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot
  SSF57667 UniProtKB/Swiss-Prot
UniProt B4DF32 ENTREZGENE
  K7EPX1_HUMAN UniProtKB/TrEMBL
  O75260 ENTREZGENE
  Q08AD6 ENTREZGENE
  Q08AD7 ENTREZGENE
  Q8N3V1 ENTREZGENE
  Q9BX82 ENTREZGENE
  Q9P2F1 ENTREZGENE
  ZN471_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DF32 UniProtKB/Swiss-Prot
  O75260 UniProtKB/Swiss-Prot
  Q08AD6 UniProtKB/Swiss-Prot
  Q08AD7 UniProtKB/Swiss-Prot
  Q8N3V1 UniProtKB/Swiss-Prot
  Q9P2F1 UniProtKB/Swiss-Prot