ZNF175 (zinc finger protein 175) - Rat Genome Database

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Gene: ZNF175 (zinc finger protein 175) Homo sapiens
Analyze
Symbol: ZNF175
Name: zinc finger protein 175
RGD ID: 1346277
HGNC Page HGNC:12964
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleolus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: OTK18; zinc finger protein OTK18
RGD Orthologs
Rat
Bonobo
Dog
Squirrel
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
GRCh381951,571,283 - 51,592,510 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,571,283 - 51,592,510 (+)EnsemblGRCh38hg38GRCh38
GRCh371952,074,536 - 52,095,763 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,766,343 - 56,784,803 (+)NCBINCBI36Build 36hg18NCBI36
Build 341956,766,342 - 56,784,802NCBI
Celera1949,125,591 - 49,144,051 (+)NCBICelera
Cytogenetic Map19q13.41NCBI
HuRef1948,406,861 - 48,425,367 (+)NCBIHuRef
CHM1_11952,076,460 - 52,094,902 (+)NCBICHM1_1
T2T-CHM13v2.01954,659,955 - 54,681,159 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
cytoplasm  (IEA)
cytosol  (IDA)
nucleolus  (IDA)
nucleus  (IBA,IEA)

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:1602151   PMID:8838321   PMID:12477932   PMID:12574502   PMID:14688346   PMID:15057824   PMID:15081264   PMID:15489334   PMID:17170456   PMID:18029348   PMID:18773297   PMID:18776638  
PMID:19034669   PMID:19034670   PMID:19247725   PMID:19274049   PMID:20211142   PMID:20379614   PMID:20936779   PMID:21873635   PMID:21988832   PMID:22491018   PMID:25416956   PMID:29987050  
PMID:32296183   PMID:33637726   PMID:33660365   PMID:33961781   PMID:34048709   PMID:34644545   PMID:38334954  


Genomics

Comparative Map Data
ZNF175
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381951,571,283 - 51,592,510 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,571,283 - 51,592,510 (+)EnsemblGRCh38hg38GRCh38
GRCh371952,074,536 - 52,095,763 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,766,343 - 56,784,803 (+)NCBINCBI36Build 36hg18NCBI36
Build 341956,766,342 - 56,784,802NCBI
Celera1949,125,591 - 49,144,051 (+)NCBICelera
Cytogenetic Map19q13.41NCBI
HuRef1948,406,861 - 48,425,367 (+)NCBIHuRef
CHM1_11952,076,460 - 52,094,902 (+)NCBICHM1_1
T2T-CHM13v2.01954,659,955 - 54,681,159 (+)NCBIT2T-CHM13v2.0
Zfp719
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81103,146,519 - 103,159,466 (+)NCBIGRCr8
mRatBN7.2194,009,957 - 94,027,342 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl193,992,492 - 94,023,023 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0199,500,211 - 99,513,269 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl199,505,677 - 99,512,489 (+)EnsemblRnor6.0rn6Rnor6.0
RGSC_v3.4193,986,011 - 93,992,829 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera188,285,533 - 88,298,523 (+)NCBICelera
Cytogenetic Map1q22NCBI
ZNF175
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22057,615,288 - 57,634,195 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11959,539,778 - 59,558,470 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01948,516,303 - 48,534,799 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11957,398,056 - 57,416,654 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1957,400,149 - 57,416,487 (+)Ensemblpanpan1.1panPan2
ZNF175
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11105,502,656 - 105,522,206 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1105,504,293 - 105,519,911 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1105,077,271 - 105,095,186 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01106,013,880 - 106,031,791 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1106,012,005 - 106,029,202 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11105,685,871 - 105,703,796 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01105,327,179 - 105,345,108 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01106,122,004 - 106,139,929 (-)NCBIUU_Cfam_GSD_1.0
Znf175
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093494,864,624 - 4,875,954 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493702630,049 - 37,338 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493702624,788 - 35,657 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF175
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl658,408,885 - 58,419,435 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1658,407,424 - 58,419,481 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2651,770,506 - 51,782,972 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF175
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1644,409,441 - 44,423,508 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl644,410,243 - 44,423,378 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607324,463,687 - 24,479,485 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in ZNF175
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3 copy number gain See cases [RCV000143450] Chr19:51202361..51993020 [GRCh38]
Chr19:51705617..52496273 [GRCh37]
Chr19:56397429..57188085 [NCBI36]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_007147.4(ZNF175):c.1460A>G (p.Lys487Arg) single nucleotide variant not specified [RCV004293322] Chr19:51587791 [GRCh38]
Chr19:52091044 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_007147.4(ZNF175):c.100G>A (p.Val34Met) single nucleotide variant not specified [RCV004297924] Chr19:51581418 [GRCh38]
Chr19:52084671 [GRCh37]
Chr19:19q13.41		 likely benign
NM_007147.4(ZNF175):c.1467G>C (p.Gln489His) single nucleotide variant not specified [RCV004304750] Chr19:51587798 [GRCh38]
Chr19:52091051 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 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
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_007147.4(ZNF175):c.638G>T (p.Gly213Val) single nucleotide variant not specified [RCV004322781] Chr19:51586969 [GRCh38]
Chr19:52090222 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3 copy number gain not provided [RCV001827892] Chr19:51769834..52415762 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1574A>T (p.His525Leu) single nucleotide variant not specified [RCV004307962] Chr19:51587905 [GRCh38]
Chr19:52091158 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1904G>T (p.Arg635Ile) single nucleotide variant not specified [RCV004122512] Chr19:51588235 [GRCh38]
Chr19:52091488 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1363G>A (p.Ala455Thr) single nucleotide variant not specified [RCV004085977] Chr19:51587694 [GRCh38]
Chr19:52090947 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.2045A>G (p.Asn682Ser) single nucleotide variant not specified [RCV004134130] Chr19:51588376 [GRCh38]
Chr19:52091629 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.158G>A (p.Arg53Gln) single nucleotide variant not specified [RCV004137818] Chr19:51581476 [GRCh38]
Chr19:52084729 [GRCh37]
Chr19:19q13.41		 likely benign
NM_007147.4(ZNF175):c.676G>T (p.Val226Phe) single nucleotide variant not specified [RCV004147876] Chr19:51587007 [GRCh38]
Chr19:52090260 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1747G>A (p.Gly583Ser) single nucleotide variant not specified [RCV004116663] Chr19:51588078 [GRCh38]
Chr19:52091331 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1400G>T (p.Arg467Ile) single nucleotide variant not specified [RCV004180201] Chr19:51587731 [GRCh38]
Chr19:52090984 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1615G>A (p.Ala539Thr) single nucleotide variant not specified [RCV004205762] Chr19:51587946 [GRCh38]
Chr19:52091199 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.193G>T (p.Ala65Ser) single nucleotide variant not specified [RCV004184250] Chr19:51581511 [GRCh38]
Chr19:52084764 [GRCh37]
Chr19:19q13.41		 likely benign
NM_007147.4(ZNF175):c.1027G>T (p.Val343Phe) single nucleotide variant not specified [RCV004214674] Chr19:51587358 [GRCh38]
Chr19:52090611 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1125G>A (p.Met375Ile) single nucleotide variant not specified [RCV004132998] Chr19:51587456 [GRCh38]
Chr19:52090709 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.70G>A (p.Glu24Lys) single nucleotide variant not specified [RCV004173536] Chr19:51573399 [GRCh38]
Chr19:52076652 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.802A>G (p.Lys268Glu) single nucleotide variant not specified [RCV004165823] Chr19:51587133 [GRCh38]
Chr19:52090386 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.284A>G (p.Gln95Arg) single nucleotide variant not specified [RCV004236756] Chr19:51581871 [GRCh38]
Chr19:52085124 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1760A>G (p.Tyr587Cys) single nucleotide variant not specified [RCV004097909] Chr19:51588091 [GRCh38]
Chr19:52091344 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1918G>A (p.Glu640Lys) single nucleotide variant not specified [RCV004191022] Chr19:51588249 [GRCh38]
Chr19:52091502 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.680T>C (p.Val227Ala) single nucleotide variant not specified [RCV004175453] Chr19:51587011 [GRCh38]
Chr19:52090264 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1309C>T (p.His437Tyr) single nucleotide variant not specified [RCV004176388] Chr19:51587640 [GRCh38]
Chr19:52090893 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.653A>G (p.Asn218Ser) single nucleotide variant not specified [RCV004238471] Chr19:51586984 [GRCh38]
Chr19:52090237 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.544A>G (p.Ile182Val) single nucleotide variant not specified [RCV004274032] Chr19:51586875 [GRCh38]
Chr19:52090128 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1103G>A (p.Cys368Tyr) single nucleotide variant not specified [RCV004276161] Chr19:51587434 [GRCh38]
Chr19:52090687 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.36G>C (p.Gln12His) single nucleotide variant not specified [RCV004267969] Chr19:51573365 [GRCh38]
Chr19:52076618 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.767A>G (p.Gln256Arg) single nucleotide variant not specified [RCV004253782] Chr19:51587098 [GRCh38]
Chr19:52090351 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1745C>G (p.Thr582Arg) single nucleotide variant not specified [RCV004319040] Chr19:51588076 [GRCh38]
Chr19:52091329 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1988G>A (p.Arg663Gln) single nucleotide variant not specified [RCV004309574] Chr19:51588319 [GRCh38]
Chr19:52091572 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_007147.4(ZNF175):c.1351G>A (p.Glu451Lys) single nucleotide variant not specified [RCV004491553] Chr19:51587682 [GRCh38]
Chr19:52090935 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.158G>C (p.Arg53Pro) single nucleotide variant not specified [RCV004491554] Chr19:51581476 [GRCh38]
Chr19:52084729 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1670A>C (p.Lys557Thr) single nucleotide variant not specified [RCV004491556] Chr19:51588001 [GRCh38]
Chr19:52091254 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.676G>A (p.Val226Ile) single nucleotide variant not specified [RCV004491561] Chr19:51587007 [GRCh38]
Chr19:52090260 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.781T>C (p.Cys261Arg) single nucleotide variant not specified [RCV004491562] Chr19:51587112 [GRCh38]
Chr19:52090365 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1975A>G (p.Lys659Glu) single nucleotide variant not specified [RCV004491558] Chr19:51588306 [GRCh38]
Chr19:52091559 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.2065C>T (p.His689Tyr) single nucleotide variant not specified [RCV004491560] Chr19:51588396 [GRCh38]
Chr19:52091649 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.851G>A (p.Cys284Tyr) single nucleotide variant not specified [RCV004491563] Chr19:51587182 [GRCh38]
Chr19:52090435 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1652G>A (p.Arg551Lys) single nucleotide variant not specified [RCV004491555] Chr19:51587983 [GRCh38]
Chr19:52091236 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.203A>T (p.Tyr68Phe) single nucleotide variant not specified [RCV004491559] Chr19:51581790 [GRCh38]
Chr19:52085043 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.709T>C (p.Ser237Pro) single nucleotide variant not specified [RCV004687556] Chr19:51587040 [GRCh38]
Chr19:52090293 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1289A>G (p.Gln430Arg) single nucleotide variant not specified [RCV004687559] Chr19:51587620 [GRCh38]
Chr19:52090873 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1274G>C (p.Gly425Ala) single nucleotide variant not specified [RCV004688058] Chr19:51587605 [GRCh38]
Chr19:52090858 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.2054A>G (p.Asn685Ser) single nucleotide variant not specified [RCV004687555] Chr19:51588385 [GRCh38]
Chr19:52091638 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.1382A>G (p.His461Arg) single nucleotide variant not specified [RCV004687557] Chr19:51587713 [GRCh38]
Chr19:52090966 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.994G>T (p.Asp332Tyr) single nucleotide variant not specified [RCV004687553] Chr19:51587325 [GRCh38]
Chr19:52090578 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.431G>A (p.Arg144His) single nucleotide variant not specified [RCV004688057] Chr19:51586762 [GRCh38]
Chr19:52090015 [GRCh37]
Chr19:19q13.41		 likely benign
NM_007147.4(ZNF175):c.383A>G (p.Asp128Gly) single nucleotide variant not specified [RCV004687558] Chr19:51586714 [GRCh38]
Chr19:52089967 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_007147.4(ZNF175):c.853G>T (p.Gly285Trp) single nucleotide variant not specified [RCV004687554] Chr19:51587184 [GRCh38]
Chr19:52090437 [GRCh37]
Chr19:19q13.41		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:956
Count of miRNA genes:645
Interacting mature miRNAs:704
Transcripts:ENST00000262259, ENST00000436511, ENST00000545217, ENST00000596504, ENST00000600460
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
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
407414473GWAS1063449_Hbone density QTL GWAS1063449 (human)6e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)195158307551583076Human
407254869GWAS903845_Hsialic acid-binding Ig-like lectin 6 measurement QTL GWAS903845 (human)3e-12sialic acid-binding Ig-like lectin 6 measurement195159120551591206Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
406957534GWAS606510_Hresponse to xenobiotic stimulus QTL GWAS606510 (human)0.0000003response to xenobiotic stimulus195158158351581584Human

Markers in Region
G31547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371952,077,039 - 52,077,153UniSTSGRCh37
Build 361956,768,851 - 56,768,965RGDNCBI36
Celera1949,128,099 - 49,128,213RGD
Cytogenetic Map19q13.4UniSTS
HuRef1948,409,369 - 48,409,483UniSTS
SHGC-110678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371952,076,263 - 52,076,380UniSTSGRCh37
Build 361956,768,075 - 56,768,192RGDNCBI36
Celera1949,127,323 - 49,127,440RGD
Cytogenetic Map19q13.4UniSTS
HuRef1948,408,593 - 48,408,710UniSTS
TNG Radiation Hybrid Map1921903.0UniSTS
RH12308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371952,092,709 - 52,092,896UniSTSGRCh37
Build 361956,784,521 - 56,784,708RGDNCBI36
Celera1949,143,769 - 49,143,956RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.4UniSTS
HuRef1948,425,085 - 48,425,272UniSTS
GeneMap99-GB4 RH Map19275.75UniSTS
NCBI RH Map19562.5UniSTS
SHGC-32377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371952,088,284 - 52,088,433UniSTSGRCh37
Build 361956,780,096 - 56,780,245RGDNCBI36
Celera1949,139,344 - 49,139,493RGD
Cytogenetic Map19q13.4UniSTS
HuRef1948,420,660 - 48,420,809UniSTS
TNG Radiation Hybrid Map1921894.0UniSTS
ZNF175__4968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371952,092,142 - 52,093,004UniSTSGRCh37
Build 361956,783,954 - 56,784,816RGDNCBI36
Celera1949,143,202 - 49,144,064RGD
HuRef1948,424,518 - 48,425,380UniSTS


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 2438 2788 2253 4974 1725 2349 5 623 1951 464 2270 7303 6471 53 3734 1 852 1744 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_007147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC018755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI221738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW500087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX474148 (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
  CQ840917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB528741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB353527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262259   ⟹   ENSP00000262259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,571,283 - 51,592,510 (+)Ensembl
Ensembl Acc Id: ENST00000436511   ⟹   ENSP00000440578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,573,328 - 51,589,738 (+)Ensembl
Ensembl Acc Id: ENST00000545217   ⟹   ENSP00000444424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,571,298 - 51,574,210 (+)Ensembl
Ensembl Acc Id: ENST00000596504   ⟹   ENSP00000470922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,571,304 - 51,581,546 (+)Ensembl
Ensembl Acc Id: ENST00000600460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,581,368 - 51,587,362 (+)Ensembl
RefSeq Acc Id: NM_007147   ⟹   NP_009078
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,571,283 - 51,592,510 (+)NCBI
GRCh371952,074,531 - 52,092,991 (+)ENTREZGENE
Build 361956,766,343 - 56,784,803 (+)NCBI Archive
HuRef1948,406,861 - 48,425,367 (+)ENTREZGENE
CHM1_11952,076,419 - 52,094,902 (+)NCBI
T2T-CHM13v2.01954,659,955 - 54,681,159 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136208
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,571,283 - 51,574,210 (+)NCBI
CHM1_11952,076,419 - 52,079,381 (+)NCBI
T2T-CHM13v2.01954,659,955 - 54,662,880 (+)NCBI
Sequence:
RefSeq Acc Id: NP_009078   ⟸   NM_007147
- UniProtKB: A8K9H2 (UniProtKB/Swiss-Prot),   Q9Y473 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000470922   ⟸   ENST00000596504
Ensembl Acc Id: ENSP00000444424   ⟸   ENST00000545217
Ensembl Acc Id: ENSP00000262259   ⟸   ENST00000262259
Ensembl Acc Id: ENSP00000440578   ⟸   ENST00000436511
Protein Domains
KRAB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y473-F1-model_v2 AlphaFold Q9Y473 1-711 view protein structure

Promoters
RGD ID:13205387
Promoter ID:EPDNEW_H26274
Type:initiation region
Name:ZNF175_1
Description:zinc finger protein 175
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26275  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,571,287 - 51,571,347EPDNEW
RGD ID:13205389
Promoter ID:EPDNEW_H26275
Type:initiation region
Name:ZNF175_2
Description:zinc finger protein 175
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26274  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,571,433 - 51,571,493EPDNEW
RGD ID:6796263
Promoter ID:HG_KWN:30702
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000262259
Position:
Human AssemblyChrPosition (strand)Source
Build 361956,766,094 - 56,766,594 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12964 AgrOrtholog
COSMIC ZNF175 COSMIC
Ensembl Genes ENSG00000105497 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262259 ENTREZGENE
  ENST00000262259.7 UniProtKB/Swiss-Prot
  ENST00000436511.2 UniProtKB/TrEMBL
  ENST00000545217 ENTREZGENE
  ENST00000545217.5 UniProtKB/TrEMBL
  ENST00000596504.1 UniProtKB/TrEMBL
Gene3D-CATH 6.10.140.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000105497 GTEx
HGNC ID HGNC:12964 ENTREZGENE
Human Proteome Map ZNF175 Human Proteome Map
InterPro C2H2-ZF_domain UniProtKB/Swiss-Prot
  KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Krueppel_C2H2_ZnF UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:7728 UniProtKB/Swiss-Prot
NCBI Gene 7728 ENTREZGENE
OMIM 601139 OMIM
PANTHER FINGER PUTATIVE TRANSCRIPTION FACTOR FAMILY-RELATED UniProtKB/Swiss-Prot
  KRAB DOMAIN C2H2 ZINC FINGER UniProtKB/TrEMBL
  KRAB DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  SI:DKEY-15H8.11 PROTEIN-RELATED UniProtKB/Swiss-Prot
  ZINC FINGER PROTEIN 939 UniProtKB/TrEMBL
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA37546 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot
UniProt A8K9H2 ENTREZGENE
  F5GZI7_HUMAN UniProtKB/TrEMBL
  G3V1K8_HUMAN UniProtKB/TrEMBL
  L8E9H5_HUMAN UniProtKB/TrEMBL
  M0R013_HUMAN UniProtKB/TrEMBL
  Q9Y473 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K9H2 UniProtKB/Swiss-Prot