ZNF30 (zinc finger protein 30) - Rat Genome Database

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Gene: ZNF30 (zinc finger protein 30) Homo sapiens
Analyze
Symbol: ZNF30
Name: zinc finger protein 30
RGD ID: 1345379
HGNC Page HGNC:13090
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: DKFZp686N19164; FLJ20562; KOX28; zinc finger protein 30 (KOX 28); zinc finger protein KOX28
RGD Orthologs
Bonobo
Squirrel
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
GRCh381934,923,841 - 34,945,168 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1934,926,887 - 34,945,172 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh371935,417,807 - 35,436,072 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,109,647 - 40,127,916 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341940,109,723 - 40,127,909NCBI
Celera1932,131,189 - 32,149,419 (+)NCBICelera
Cytogenetic Map19q13.11NCBI
HuRef1931,925,782 - 31,944,010 (+)NCBIHuRef
CHM1_11935,419,545 - 35,438,050 (+)NCBICHM1_1
T2T-CHM13v2.01937,468,474 - 37,489,783 (+)NCBIT2T-CHM13v2.0
JBrowse:




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

Biological Process

Cellular Component
nucleoplasm  (IEA)
nucleus  (IBA,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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2288909   PMID:12477932   PMID:16344560   PMID:19274049   PMID:21873635   PMID:23602568   PMID:28514442   PMID:33961781   PMID:34535262   PMID:35563538   PMID:35973513   PMID:40593736  


Genomics

Comparative Map Data
ZNF30
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381934,923,841 - 34,945,168 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1934,926,887 - 34,945,172 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh371935,417,807 - 35,436,072 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,109,647 - 40,127,916 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341940,109,723 - 40,127,909NCBI
Celera1932,131,189 - 32,149,419 (+)NCBICelera
Cytogenetic Map19q13.11NCBI
HuRef1931,925,782 - 31,944,010 (+)NCBIHuRef
CHM1_11935,419,545 - 35,438,050 (+)NCBICHM1_1
T2T-CHM13v2.01937,468,474 - 37,489,783 (+)NCBIT2T-CHM13v2.0
ZNF30
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22040,935,070 - 40,956,215 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11942,914,142 - 42,940,753 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01931,867,147 - 31,889,109 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11940,617,960 - 40,629,506 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1940,617,536 - 40,629,151 (+)EnsemblPanPan1.1 EnsemblpanPan2panpan1.1
Znf30
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mIctTri1.hap11517,945,378 - 18,054,641 (-)NCBImIctTri1.hap1
HiC_Itri_2NW_02440934910,245,275 - 10,361,143 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365701,284,771 - 1,297,816 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF30
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mChlSab1.0.hap1623,937,825 - 24,057,304 (-)NCBImChlSab1.0.hap1
ChlSab1.1 Ensembl629,860,068 - 29,875,321 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM

Variants

.
Variants in ZNF30
52 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000133888] Chr19:19p13.2-q13.31 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000135879] Chr19:19q12-13.13 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss Microcephaly [RCV000136794] Chr19:19q12-13.13 pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 copy number loss Anxiety [RCV000141865] Chr19:19q12-13.12 pathogenic
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000050635] Chr19:19p13.11-q13.11 pathogenic
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000448231] Chr19:19q12-13.12 pathogenic
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 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 19q13.11(chr19:35432938-35482604)x3 copy number gain not provided [RCV000752668] Chr19:35432938..35482604 [GRCh37]
Chr19:19q13.11		 benign
GRCh37/hg19 19q13.11(chr19:35432938-35486015)x3 copy number gain not provided [RCV000752669] Chr19:35432938..35486015 [GRCh37]
Chr19:19q13.11		 benign
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 19q13.11-13.12(chr19:35043556-36316644) copy number loss not provided [RCV000767769] Chr19:19q13.11-13.12 pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) copy number loss Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] Chr19:19q13.11-13.12 pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:19q11-13.33 pathogenic
NM_194325.3(ZNF30):c.1252C>T (p.His418Tyr) single nucleotide variant not specified [RCV004297962] Chr19:34944218 [GRCh38]
Chr19:35435122 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1109A>C (p.Lys370Thr) single nucleotide variant not specified [RCV004303870] Chr19:34944075 [GRCh38]
Chr19:35434979 [GRCh37]
Chr19:19q13.11		 uncertain significance
NC_000019.9:g.(?_33167170)_(36643309_?)dup duplication Hereditary spastic paraplegia 75 [RCV003107659] Chr19:19q13.11-13.12 uncertain significance
NM_194325.3(ZNF30):c.207G>T (p.Trp69Cys) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006139862] Chr19:34933674 [GRCh38]
Chr19:35424578 [GRCh37]
Chr19:19q13.11		 evidence_only
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19p13.11-q13.2 pathogenic
NM_194325.3(ZNF30):c.-65C>T single nucleotide variant Ovarian serous cystadenocarcinoma [RCV006139857] Chr19:34927216 [GRCh38]
Chr19:35418120 [GRCh37]
Chr19:19q13.11		 evidence_only
NM_194325.3(ZNF30):c.812C>T (p.Thr271Ile) single nucleotide variant not specified [RCV004292232] Chr19:34943778 [GRCh38]
Chr19:35434682 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.493A>T (p.Ile165Leu) single nucleotide variant not specified [RCV004117221] Chr19:34943459 [GRCh38]
Chr19:35434363 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.494T>G (p.Ile165Arg) single nucleotide variant not specified [RCV004117224] Chr19:34943460 [GRCh38]
Chr19:35434364 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.865G>A (p.Glu289Lys) single nucleotide variant not specified [RCV004220525] Chr19:34943831 [GRCh38]
Chr19:35434735 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.274G>A (p.Asp92Asn) single nucleotide variant not specified [RCV004193868] Chr19:34943240 [GRCh38]
Chr19:35434144 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1720G>A (p.Gly574Arg) single nucleotide variant not specified [RCV004152759] Chr19:34944686 [GRCh38]
Chr19:35435590 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.923G>T (p.Arg308Ile) single nucleotide variant not specified [RCV004235998] Chr19:34943889 [GRCh38]
Chr19:35434793 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1037G>A (p.Cys346Tyr) single nucleotide variant not specified [RCV004196474] Chr19:34944003 [GRCh38]
Chr19:35434907 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.358C>T (p.Arg120Cys) single nucleotide variant not specified [RCV004219800] Chr19:34943324 [GRCh38]
Chr19:35434228 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.252C>G (p.Cys84Trp) single nucleotide variant not specified [RCV004155994] Chr19:34933719 [GRCh38]
Chr19:35424623 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1763G>A (p.Arg588Gln) single nucleotide variant not specified [RCV004160279] Chr19:34944729 [GRCh38]
Chr19:35435633 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1378G>A (p.Glu460Lys) single nucleotide variant not specified [RCV004118116] Chr19:34944344 [GRCh38]
Chr19:35435248 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1684C>G (p.His562Asp) single nucleotide variant not specified [RCV004133631] Chr19:34944650 [GRCh38]
Chr19:35435554 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.820T>C (p.Tyr274His) single nucleotide variant not specified [RCV005525771] Chr19:34943786 [GRCh38]
Chr19:35434690 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1803T>G (p.Cys601Trp) single nucleotide variant not specified [RCV006354639] Chr19:34944769 [GRCh38]
Chr19:35435673 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.278C>T (p.Thr93Ile) single nucleotide variant not specified [RCV006354643] Chr19:34943244 [GRCh38]
Chr19:35434148 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1699C>G (p.Pro567Ala) single nucleotide variant not specified [RCV006354644] Chr19:34944665 [GRCh38]
Chr19:35435569 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1510A>G (p.Arg504Gly) single nucleotide variant not specified [RCV006354647] Chr19:34944476 [GRCh38]
Chr19:35435380 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.578A>G (p.Lys193Arg) single nucleotide variant Malignant lymphoma, large B-cell, diffuse [RCV006139866] Chr19:34943544 [GRCh38]
Chr19:35434448 [GRCh37]
Chr19:19q13.11		 evidence_only
NM_194325.3(ZNF30):c.1823G>C (p.Ser608Thr) single nucleotide variant not specified [RCV004249905] Chr19:34944789 [GRCh38]
Chr19:35435693 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.755G>A (p.Ser252Asn) single nucleotide variant not specified [RCV005525776] Chr19:34943721 [GRCh38]
Chr19:35434625 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.217G>A (p.Glu73Lys) single nucleotide variant not specified [RCV005525772] Chr19:34933684 [GRCh38]
Chr19:35424588 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.605A>G (p.Lys202Arg) single nucleotide variant not specified [RCV005525774] Chr19:34943571 [GRCh38]
Chr19:35434475 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1079A>G (p.His360Arg) single nucleotide variant not specified [RCV004274993] Chr19:34944045 [GRCh38]
Chr19:35434949 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1405G>A (p.Val469Ile) single nucleotide variant not specified [RCV005525773] Chr19:34944371 [GRCh38]
Chr19:35435275 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1012C>T (p.His338Tyr) single nucleotide variant not specified [RCV005787707] Chr19:34943978 [GRCh38]
Chr19:35434882 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1080T>A (p.His360Gln) single nucleotide variant not specified [RCV005787712] Chr19:34944046 [GRCh38]
Chr19:35434950 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1855A>G (p.Met619Val) single nucleotide variant not specified [RCV005787715] Chr19:34944821 [GRCh38]
Chr19:35435725 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1319G>A (p.Arg440His) single nucleotide variant not specified [RCV006354640] Chr19:34944285 [GRCh38]
Chr19:35435189 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.460G>C (p.Gly154Arg) single nucleotide variant not specified [RCV005787706] Chr19:34943426 [GRCh38]
Chr19:35434330 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1784C>A (p.Pro595His) single nucleotide variant not specified [RCV006354638] Chr19:34944750 [GRCh38]
Chr19:35435654 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.643G>A (p.Gly215Ser) single nucleotide variant not specified [RCV006354641] Chr19:34943609 [GRCh38]
Chr19:35434513 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1550G>A (p.Cys517Tyr) single nucleotide variant not specified [RCV006354642] Chr19:34944516 [GRCh38]
Chr19:35435420 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.281T>C (p.Ile94Thr) single nucleotide variant not specified [RCV006354645] Chr19:34943247 [GRCh38]
Chr19:35434151 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.704G>A (p.Gly235Glu) single nucleotide variant not specified [RCV006354646] Chr19:34943670 [GRCh38]
Chr19:35434574 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.406G>A (p.Val136Ile) single nucleotide variant not specified [RCV005787713] Chr19:34943372 [GRCh38]
Chr19:35434276 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1268C>A (p.Thr423Asn) single nucleotide variant not specified [RCV005779356] Chr19:34944234 [GRCh38]
Chr19:35435138 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1384G>A (p.Gly462Ser) single nucleotide variant not specified [RCV006669532] Chr19:34944350 [GRCh38]
Chr19:35435254 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1603A>G (p.Thr535Ala) single nucleotide variant not specified [RCV006666051] Chr19:34944569 [GRCh38]
Chr19:35435473 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1607G>A (p.Gly536Glu) single nucleotide variant not specified [RCV005779354] Chr19:34944573 [GRCh38]
Chr19:35435477 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.239G>A (p.Gly80Glu) single nucleotide variant not specified [RCV005787703] Chr19:34933706 [GRCh38]
Chr19:35424610 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1432C>T (p.His478Tyr) single nucleotide variant not specified [RCV005787704] Chr19:34944398 [GRCh38]
Chr19:35435302 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.359G>A (p.Arg120His) single nucleotide variant not specified [RCV005787705] Chr19:34943325 [GRCh38]
Chr19:35434229 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1489T>C (p.Ser497Pro) single nucleotide variant not specified [RCV005787708] Chr19:34944455 [GRCh38]
Chr19:35435359 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1366T>C (p.Tyr456His) single nucleotide variant not specified [RCV005787709] Chr19:34944332 [GRCh38]
Chr19:35435236 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.998G>T (p.Arg333Leu) single nucleotide variant not specified [RCV005787710] Chr19:34943964 [GRCh38]
Chr19:35434868 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1016C>G (p.Thr339Ser) single nucleotide variant not specified [RCV005787711] Chr19:34943982 [GRCh38]
Chr19:35434886 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.202C>A (p.Gln68Lys) single nucleotide variant not specified [RCV005787714] Chr19:34933669 [GRCh38]
Chr19:35424573 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.482A>G (p.His161Arg) single nucleotide variant not specified [RCV005525777] Chr19:34943448 [GRCh38]
Chr19:35434352 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.124G>A (p.Val42Met) single nucleotide variant not specified [RCV005525781] Chr19:34931957 [GRCh38]
Chr19:35422861 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.637A>G (p.Ile213Val) single nucleotide variant not specified [RCV004366111] Chr19:34943603 [GRCh38]
Chr19:35434507 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1337A>G (p.His446Arg) single nucleotide variant not specified [RCV004356163] Chr19:34944303 [GRCh38]
Chr19:35435207 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.961T>C (p.Cys321Arg) single nucleotide variant not specified [RCV004361118] Chr19:34943927 [GRCh38]
Chr19:35434831 [GRCh37]
Chr19:19q13.11		 uncertain significance
Single allele deletion Not Provided [RCV003448708] Chr19:35225414..37357598 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
NM_194325.3(ZNF30):c.723T>C (p.Phe241=) single nucleotide variant not provided [RCV003406934] Chr19:34943689 [GRCh38]
Chr19:35434593 [GRCh37]
Chr19:19q13.11		 likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:19q11-13.2 pathogenic
NM_194325.3(ZNF30):c.1423C>T (p.Arg475Trp) single nucleotide variant not specified [RCV004494355] Chr19:34944389 [GRCh38]
Chr19:35435293 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1688C>A (p.Thr563Asn) single nucleotide variant not specified [RCV004494357] Chr19:34944654 [GRCh38]
Chr19:35435558 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.236A>T (p.Asp79Val) single nucleotide variant not specified [RCV004494358] Chr19:34933703 [GRCh38]
Chr19:35424607 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.323T>C (p.Phe108Ser) single nucleotide variant not specified [RCV004494360] Chr19:34943289 [GRCh38]
Chr19:35434193 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.34G>A (p.Gly12Arg) single nucleotide variant not specified [RCV004494361] Chr19:34931867 [GRCh38]
Chr19:35422771 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.138C>A (p.Asn46Lys) single nucleotide variant not specified [RCV004494354] Chr19:34931971 [GRCh38]
Chr19:35422875 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1558G>C (p.Ala520Pro) single nucleotide variant not specified [RCV004494356] Chr19:34944524 [GRCh38]
Chr19:35435428 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.703G>A (p.Gly235Arg) single nucleotide variant not specified [RCV004494362] Chr19:34943669 [GRCh38]
Chr19:35434573 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.745C>T (p.Arg249Trp) single nucleotide variant not specified [RCV004494363] Chr19:34943711 [GRCh38]
Chr19:35434615 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.82T>C (p.Trp28Arg) single nucleotide variant not specified [RCV004494364] Chr19:34931915 [GRCh38]
Chr19:35422819 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1 copy number loss Not provided [RCV004577477] Chr19:35223021..36895699 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
NM_194325.3(ZNF30):c.419G>T (p.Arg140Ile) single nucleotide variant not specified [RCV004688426] Chr19:34943385 [GRCh38]
Chr19:35434289 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1318C>T (p.Arg440Cys) single nucleotide variant not specified [RCV004688423] Chr19:34944284 [GRCh38]
Chr19:35435188 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.587G>T (p.Arg196Ile) single nucleotide variant not specified [RCV005787702] Chr19:34943553 [GRCh38]
Chr19:35434457 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.35G>A (p.Gly12Glu) single nucleotide variant not provided [RCV003406933] Chr19:34931868 [GRCh38]
Chr19:35422772 [GRCh37]
Chr19:19q13.11		 likely benign
NM_194325.3(ZNF30):c.278C>A (p.Thr93Lys) single nucleotide variant not specified [RCV004494359] Chr19:34943244 [GRCh38]
Chr19:35434148 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1657G>A (p.Gly553Arg) single nucleotide variant not specified [RCV004688424] Chr19:34944623 [GRCh38]
Chr19:35435527 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.94G>T (p.Asp32Tyr) single nucleotide variant not specified [RCV004688427] Chr19:34931927 [GRCh38]
Chr19:35422831 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q11-13.13(chr19:28271107-38637350)x1 copy number loss not provided [RCV004819395] Chr19:19q11-13.13 pathogenic
NM_194325.3(ZNF30):c.809G>A (p.Ser270Asn) single nucleotide variant not specified [RCV004893347] Chr19:34943775 [GRCh38]
Chr19:35434679 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1707A>C (p.Glu569Asp) single nucleotide variant not specified [RCV004893343] Chr19:34944673 [GRCh38]
Chr19:35435577 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1474A>G (p.Thr492Ala) single nucleotide variant not specified [RCV004893344] Chr19:34944440 [GRCh38]
Chr19:35435344 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1487C>G (p.Ala496Gly) single nucleotide variant not specified [RCV004893345] Chr19:34944453 [GRCh38]
Chr19:35435357 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1148G>A (p.Arg383His) single nucleotide variant not specified [RCV004893346] Chr19:34944114 [GRCh38]
Chr19:35435018 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1865T>C (p.Ile622Thr) single nucleotide variant not specified [RCV004893348] Chr19:34944831 [GRCh38]
Chr19:35435735 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1030T>G (p.Phe344Val) single nucleotide variant not specified [RCV004893349] Chr19:34943996 [GRCh38]
Chr19:35434900 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1442T>C (p.Val481Ala) single nucleotide variant not specified [RCV004893351] Chr19:34944408 [GRCh38]
Chr19:35435312 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1388A>G (p.Lys463Arg) single nucleotide variant not specified [RCV004893352] Chr19:34944354 [GRCh38]
Chr19:35435258 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.397T>C (p.Ser133Pro) single nucleotide variant not specified [RCV005308934] Chr19:34943363 [GRCh38]
Chr19:35434267 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1540T>G (p.Cys514Gly) single nucleotide variant not specified [RCV005308933] Chr19:34944506 [GRCh38]
Chr19:35435410 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.11A>C (p.Lys4Thr) single nucleotide variant not specified [RCV005305006] Chr19:34931844 [GRCh38]
Chr19:35422748 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1838T>G (p.Val613Gly) single nucleotide variant not specified [RCV005305003] Chr19:34944804 [GRCh38]
Chr19:35435708 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.443A>G (p.Asn148Ser) single nucleotide variant not specified [RCV005305004] Chr19:34943409 [GRCh38]
Chr19:35434313 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1768C>T (p.His590Tyr) single nucleotide variant not specified [RCV005305005] Chr19:34944734 [GRCh38]
Chr19:35435638 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.1769A>G (p.His590Arg) single nucleotide variant not specified [RCV005525775] Chr19:34944735 [GRCh38]
Chr19:35435639 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.826G>A (p.Val276Ile) single nucleotide variant not specified [RCV005525780] Chr19:34943792 [GRCh38]
Chr19:35434696 [GRCh37]
Chr19:19q13.11		 likely benign
NM_194325.3(ZNF30):c.1466G>A (p.Cys489Tyr) single nucleotide variant not specified [RCV005525778] Chr19:34944432 [GRCh38]
Chr19:35435336 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.775C>G (p.Pro259Ala) single nucleotide variant not specified [RCV005525779] Chr19:34943741 [GRCh38]
Chr19:35434645 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_194325.3(ZNF30):c.-11A>G single nucleotide variant Familial cancer of breast [RCV006139858] Chr19:34929937 [GRCh38]
Chr19:35420841 [GRCh37]
Chr19:19q13.11		 evidence_only
NM_194325.3(ZNF30):c.161-2A>G single nucleotide variant Uterine corpus endometrial carcinoma [RCV006139861] Chr19:34933626 [GRCh38]
Chr19:35424530 [GRCh37]
Chr19:19q13.11		 evidence_only
NM_194325.3(ZNF30):c.257-549G>T single nucleotide variant Familial cancer of breast [RCV006139864] Chr19:34942674 [GRCh38]
Chr19:35433578 [GRCh37]
Chr19:19q13.11		 evidence_only
GRCh37/hg19 19q11-13.2(chr19:28271106-43255204)x3 copy number gain not specified [RCV006697186] Chr19:19q11-13.2 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1346
Count of miRNA genes:571
Interacting mature miRNAs:612
Transcripts:ENST00000303586, ENST00000426813, ENST00000439785, ENST00000595818, ENST00000601142, ENST00000601540, ENST00000601957
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
RH48738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,434,135 - 35,434,275UniSTSGRCh37
Build 361940,125,975 - 40,126,115RGDNCBI36
Celera1932,147,478 - 32,147,618RGD
Cytogenetic Map19q13.11UniSTS
HuRef1931,942,069 - 31,942,209UniSTS
GeneMap99-GB4 RH Map19208.51UniSTS
NCBI RH Map19353.5UniSTS
RH91716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,435,824 - 35,436,000UniSTSGRCh37
Build 361940,127,664 - 40,127,840RGDNCBI36
Celera1932,149,167 - 32,149,343RGD
Cytogenetic Map19q13.11UniSTS
HuRef1931,943,758 - 31,943,934UniSTS
GeneMap99-GB4 RH Map19213.99UniSTS
SHGC-80991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,420,707 - 35,421,019UniSTSGRCh37
Build 361940,112,547 - 40,112,859RGDNCBI36
Celera1932,134,063 - 32,134,375RGD
Cytogenetic Map19q13.11UniSTS
HuRef1931,928,684 - 31,928,996UniSTS
TNG Radiation Hybrid Map1912695.0UniSTS
G59777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,434,158 - 35,434,260UniSTSGRCh37
Build 361940,125,998 - 40,126,100RGDNCBI36
Celera1932,147,501 - 32,147,603RGD
Cytogenetic Map19q13.11UniSTS
HuRef1931,942,092 - 31,942,194UniSTS
TNG Radiation Hybrid Map1912738.0UniSTS
STS-H09790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,435,767 - 35,436,000UniSTSGRCh37
Build 361940,127,607 - 40,127,840RGDNCBI36
Celera1932,149,110 - 32,149,343RGD
Cytogenetic Map19q13.11UniSTS
HuRef1931,943,701 - 31,943,934UniSTS
GeneMap99-GB4 RH Map19213.99UniSTS
NCBI RH Map19347.9UniSTS
A006P11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,434,385 - 35,434,608UniSTSGRCh37
Build 361940,126,225 - 40,126,448RGDNCBI36
Celera1932,147,728 - 32,147,951RGD
Cytogenetic Map19q13.11UniSTS
HuRef1931,942,319 - 31,942,542UniSTS
GeneMap99-GB4 RH Map19237.01UniSTS
NCBI RH Map19359.3UniSTS


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 2436 2788 2250 4973 1726 2339 6 624 1912 465 2269 7263 6431 52 3734 1 852 1741 1605 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001099437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001099438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_194325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_024018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA504398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA554380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC314501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC352784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000303586   ⟹   ENSP00000303889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,903 - 34,945,172 (+)Ensembl
Ensembl Acc Id: ENST00000439785   ⟹   ENSP00000403441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,903 - 34,945,172 (+)Ensembl
Ensembl Acc Id: ENST00000595818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,933,611 - 34,943,426 (+)Ensembl
Ensembl Acc Id: ENST00000601142   ⟹   ENSP00000469954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,903 - 34,945,168 (+)Ensembl
Ensembl Acc Id: ENST00000601540   ⟹   ENSP00000476813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,910 - 34,933,723 (+)Ensembl
Ensembl Acc Id: ENST00000601957   ⟹   ENSP00000470094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,903 - 34,945,168 (+)Ensembl
Ensembl Acc Id: ENST00000891913   ⟹   ENSP00000561972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,903 - 34,945,172 (+)Ensembl
Ensembl Acc Id: ENST00000891914   ⟹   ENSP00000561973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,903 - 34,945,172 (+)Ensembl
Ensembl Acc Id: ENST00000932306   ⟹   ENSP00000602365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,966 - 34,945,172 (+)Ensembl
Ensembl Acc Id: ENST00000932307   ⟹   ENSP00000602366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,903 - 34,945,172 (+)Ensembl
Ensembl Acc Id: ENST00000957110   ⟹   ENSP00000627169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,887 - 34,945,172 (+)Ensembl
Ensembl Acc Id: ENST00000957111   ⟹   ENSP00000627170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,927,137 - 34,945,172 (+)Ensembl
Ensembl Acc Id: ENST00000983243   ⟹   ENSP00000653060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,890 - 34,945,168 (+)Ensembl
Ensembl Acc Id: ENST00000983244   ⟹   ENSP00000653061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,906 - 34,945,171 (+)Ensembl
Ensembl Acc Id: ENST00001075365   ⟹   ENSP00000745171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,927,048 - 34,945,171 (+)Ensembl
Ensembl Acc Id: ENST00001141785   ⟹   ENSP00000814431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1934,926,903 - 34,945,172 (+)Ensembl
RefSeq Acc Id: NM_001099437   ⟹   NP_001092907
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,926,903 - 34,945,168 (+)NCBI
GRCh371935,417,807 - 35,436,076 (+)RGD
Build 361940,109,647 - 40,127,916 (+)NCBI Archive
Celera1932,131,189 - 32,149,419 (+)RGD
HuRef1931,925,782 - 31,944,010 (+)RGD
CHM1_11935,419,545 - 35,438,050 (+)NCBI
T2T-CHM13v2.01937,471,536 - 37,489,783 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001099438   ⟹   NP_001092908
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,926,903 - 34,945,168 (+)NCBI
GRCh371935,417,807 - 35,436,076 (+)RGD
Build 361940,109,647 - 40,127,916 (+)NCBI Archive
Celera1932,131,189 - 32,149,419 (+)RGD
HuRef1931,925,782 - 31,944,010 (+)RGD
CHM1_11935,419,545 - 35,438,050 (+)NCBI
T2T-CHM13v2.01937,471,536 - 37,489,783 (+)NCBI
Sequence:
RefSeq Acc Id: NM_194325   ⟹   NP_919306
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,926,903 - 34,945,168 (+)NCBI
GRCh371935,417,807 - 35,436,076 (+)RGD
Build 361940,109,647 - 40,127,916 (+)NCBI Archive
Celera1932,131,189 - 32,149,419 (+)RGD
HuRef1931,925,782 - 31,944,010 (+)RGD
CHM1_11935,419,545 - 35,438,050 (+)NCBI
T2T-CHM13v2.01937,471,536 - 37,489,783 (+)NCBI
Sequence:
RefSeq Acc Id: NR_024018
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,926,903 - 34,945,168 (+)NCBI
GRCh371935,417,807 - 35,436,076 (+)RGD
Celera1932,131,189 - 32,149,419 (+)RGD
HuRef1931,925,782 - 31,944,010 (+)RGD
CHM1_11935,419,545 - 35,438,050 (+)NCBI
T2T-CHM13v2.01937,471,536 - 37,489,783 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527443   ⟹   XP_011525745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,926,903 - 34,945,168 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527444   ⟹   XP_011525746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,929,081 - 34,945,168 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027424   ⟹   XP_016882913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,923,841 - 34,945,168 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027425   ⟹   XP_016882914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,926,903 - 34,945,168 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027426   ⟹   XP_016882915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,926,903 - 34,945,168 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439607   ⟹   XP_047295563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,933,624 - 34,945,168 (+)NCBI
RefSeq Acc Id: XM_054322500   ⟹   XP_054178475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01937,471,533 - 37,489,783 (+)NCBI
RefSeq Acc Id: XM_054322501   ⟹   XP_054178476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01937,468,474 - 37,489,783 (+)NCBI
RefSeq Acc Id: XM_054322502   ⟹   XP_054178477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01937,473,695 - 37,489,783 (+)NCBI
RefSeq Acc Id: XM_054322503   ⟹   XP_054178478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01937,471,536 - 37,489,783 (+)NCBI
RefSeq Acc Id: XM_054322504   ⟹   XP_054178479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01937,471,524 - 37,489,783 (+)NCBI
RefSeq Acc Id: XM_054322505   ⟹   XP_054178480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01937,478,238 - 37,489,783 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001092907 (Get FASTA)   NCBI Sequence Viewer  
  NP_001092908 (Get FASTA)   NCBI Sequence Viewer  
  NP_919306 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525745 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525746 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882913 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882914 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882915 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295563 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178476 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178477 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178478 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178479 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178480 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI42997 (Get FASTA)   NCBI Sequence Viewer  
  BAF83124 (Get FASTA)   NCBI Sequence Viewer  
  BAG58432 (Get FASTA)   NCBI Sequence Viewer  
  CAA36585 (Get FASTA)   NCBI Sequence Viewer  
  CAE45802 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000303889
  ENSP00000303889.7
  ENSP00000403441
  ENSP00000403441.1
  ENSP00000469954
  ENSP00000469954.1
  ENSP00000470094.1
  ENSP00000561972
  ENSP00000561972.1
  ENSP00000602365.1
  ENSP00000627169
  ENSP00000627169.1
  ENSP00000627170.1
GenBank Protein P17039 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001092907   ⟸   NM_001099437
- Peptide Label: isoform a
- UniProtKB: P17039 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_919306   ⟸   NM_194325
- Peptide Label: isoform b
- UniProtKB: Q6N068 (UniProtKB/Swiss-Prot),   P17039 (UniProtKB/Swiss-Prot),   B4DIC0 (UniProtKB/Swiss-Prot),   A8K320 (UniProtKB/Swiss-Prot),   A5PLP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001092908   ⟸   NM_001099438
- Peptide Label: isoform a
- UniProtKB: P17039 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525745   ⟸   XM_011527443
- Peptide Label: isoform X1
- UniProtKB: P17039 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525746   ⟸   XM_011527444
- Peptide Label: isoform X1
- UniProtKB: P17039 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016882913   ⟸   XM_017027424
- Peptide Label: isoform X1
- UniProtKB: P17039 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016882915   ⟸   XM_017027426
- Peptide Label: isoform X2
- UniProtKB: Q6N068 (UniProtKB/Swiss-Prot),   P17039 (UniProtKB/Swiss-Prot),   B4DIC0 (UniProtKB/Swiss-Prot),   A8K320 (UniProtKB/Swiss-Prot),   A5PLP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016882914   ⟸   XM_017027425
- Peptide Label: isoform X2
- UniProtKB: Q6N068 (UniProtKB/Swiss-Prot),   P17039 (UniProtKB/Swiss-Prot),   B4DIC0 (UniProtKB/Swiss-Prot),   A8K320 (UniProtKB/Swiss-Prot),   A5PLP1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000403441   ⟸   ENST00000439785
Ensembl Acc Id: ENSP00000476813   ⟸   ENST00000601540
Ensembl Acc Id: ENSP00000470094   ⟸   ENST00000601957
Ensembl Acc Id: ENSP00000469954   ⟸   ENST00000601142
Ensembl Acc Id: ENSP00000303889   ⟸   ENST00000303586
RefSeq Acc Id: XP_047295563   ⟸   XM_047439607
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054178476   ⟸   XM_054322501
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054178479   ⟸   XM_054322504
- Peptide Label: isoform X2
- UniProtKB: Q6N068 (UniProtKB/Swiss-Prot),   P17039 (UniProtKB/Swiss-Prot),   B4DIC0 (UniProtKB/Swiss-Prot),   A8K320 (UniProtKB/Swiss-Prot),   A5PLP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054178475   ⟸   XM_054322500
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054178478   ⟸   XM_054322503
- Peptide Label: isoform X2
- UniProtKB: P17039 (UniProtKB/Swiss-Prot),   B4DIC0 (UniProtKB/Swiss-Prot),   A8K320 (UniProtKB/Swiss-Prot),   A5PLP1 (UniProtKB/Swiss-Prot),   Q6N068 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054178477   ⟸   XM_054322502
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054178480   ⟸   XM_054322505
- Peptide Label: isoform X3
Ensembl Acc Id: ENSP00000561973   ⟸   ENST00000891914
Ensembl Acc Id: ENSP00000602366   ⟸   ENST00000932307
Ensembl Acc Id: ENSP00000627170   ⟸   ENST00000957111
Ensembl Acc Id: ENSP00000602365   ⟸   ENST00000932306
Ensembl Acc Id: ENSP00000627169   ⟸   ENST00000957110
Ensembl Acc Id: ENSP00000561972   ⟸   ENST00000891913
Ensembl Acc Id: ENSP00000745171   ⟸   ENST00001075365
Ensembl Acc Id: ENSP00000814431   ⟸   ENST00001141785
Ensembl Acc Id: ENSP00000653060   ⟸   ENST00000983243
Ensembl Acc Id: ENSP00000653061   ⟸   ENST00000983244
Protein Domains
KRAB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P17039-F1-model_v2 AlphaFold P17039 1-623 view protein structure

Promoters
RGD ID:7239453
Promoter ID:EPDNEW_H25473
Type:initiation region
Name:ZNF30_1
Description:zinc finger protein 30
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
GRCh381934,926,906 - 34,926,966EPDNEW
RGD ID:6796299
Promoter ID:HG_KWN:29600
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001099437,   NM_001099438,   NM_194325,   NR_024018
Position:
Human AssemblyChrPosition (strand)Source
Build 361940,109,431 - 40,109,931 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13090 AgrOrtholog
COSMIC ZNF30 COSMIC
Ensembl Genes ENSG00000168661 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000303586 ENTREZGENE
  ENST00000303586.11 UniProtKB/Swiss-Prot
  ENST00000439785 ENTREZGENE
  ENST00000439785.5 UniProtKB/Swiss-Prot
  ENST00000601142 ENTREZGENE
  ENST00000601142.2 UniProtKB/Swiss-Prot
  ENST00000601957 ENTREZGENE
  ENST00000601957.5 UniProtKB/Swiss-Prot
  ENST00000891913 ENTREZGENE
  ENST00000891913.1 UniProtKB/Swiss-Prot
  ENST00000932306.1 UniProtKB/Swiss-Prot
  ENST00000957110 ENTREZGENE
  ENST00000957110.1 UniProtKB/Swiss-Prot
  ENST00000957111.1 UniProtKB/Swiss-Prot
Gene3D-CATH 6.10.140.140 UniProtKB/Swiss-Prot
  Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000168661 GTEx
HGNC ID HGNC:13090 ENTREZGENE
Human Proteome Map ZNF30 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot
  KRAB_dom_sf UniProtKB/Swiss-Prot
  Krueppel_C2H2_ZnFinger UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:90075 UniProtKB/Swiss-Prot
NCBI Gene ZNF30 ENTREZGENE
PANTHER IP01015P-RELATED UniProtKB/Swiss-Prot
Pfam KRAB UniProtKB/Swiss-Prot
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA37665 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 A0ACI8QYQ1_HUMAN UniProtKB/TrEMBL
  A0ACI8TP80_HUMAN UniProtKB/TrEMBL
  A5PLP1 ENTREZGENE
  A8K320 ENTREZGENE
  B4DIC0 ENTREZGENE
  P17039 ENTREZGENE
  Q6N068 ENTREZGENE
  V9GYJ2_HUMAN UniProtKB/TrEMBL
  ZNF30_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A5PLP1 UniProtKB/Swiss-Prot
  A8K320 UniProtKB/Swiss-Prot
  B4DIC0 UniProtKB/Swiss-Prot
  Q6N068 UniProtKB/Swiss-Prot