ZNF143 (zinc finger protein 143) - Rat Genome Database

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Gene: ZNF143 (zinc finger protein 143) Homo sapiens
Analyze
Symbol: ZNF143
Name: zinc finger protein 143
RGD ID: 1313824
HGNC Page HGNC:12928
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of snRNA transcription by RNA polymerase II. Predicted to be located in nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hStaf; pHZ-1; SBF; selenocysteine tRNA gene transcription-activating factor; SPH-binding factor; STAF; transcriptional activator Staf
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38119,461,012 - 9,528,524 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl119,460,319 - 9,528,524 (+)EnsemblGRCh38hg38GRCh38
GRCh37119,482,559 - 9,550,071 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36119,439,089 - 9,506,647 (+)NCBINCBI36Build 36hg18NCBI36
Build 34119,439,088 - 9,506,188NCBI
Celera119,604,193 - 9,671,660 (+)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef119,153,846 - 9,221,472 (+)NCBIHuRef
CHM1_1119,481,437 - 9,549,032 (+)NCBICHM1_1
T2T-CHM13v2.0119,546,141 - 9,612,748 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription. Dumay-Odelot H, etal., Cell Cycle. 2010 Sep 15;9(18):3687-99. Epub 2010 Sep 1.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7557990   PMID:7641696   PMID:9009278   PMID:9566884   PMID:9705341   PMID:9776743   PMID:10893243   PMID:11724783   PMID:12477932   PMID:14702349   PMID:15146197   PMID:15489334  
PMID:17297437   PMID:17478512   PMID:17707600   PMID:17938208   PMID:18687992   PMID:19274049   PMID:20116366   PMID:20301503   PMID:20733350   PMID:20860770   PMID:21177654   PMID:21873635  
PMID:21909943   PMID:23152058   PMID:23539139   PMID:24009065   PMID:24952353   PMID:25437553   PMID:25609649   PMID:25645053   PMID:26186194   PMID:26841866   PMID:27173435   PMID:27337956  
PMID:27414788   PMID:27449034   PMID:28192620   PMID:28514442   PMID:28900037   PMID:29180619   PMID:30884312   PMID:30933430   PMID:30935019   PMID:31091453   PMID:31182584   PMID:31186064  
PMID:31864705   PMID:32076462   PMID:32296183   PMID:32312832   PMID:32601179   PMID:33939316   PMID:33961781   PMID:34189442   PMID:34373451   PMID:35068350   PMID:35140242   PMID:35400998  
PMID:35563538   PMID:35831314   PMID:35988805   PMID:36373674   PMID:37158648   PMID:37423952   PMID:38395183   PMID:38642782   PMID:38777146  


Genomics

Comparative Map Data
ZNF143
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38119,461,012 - 9,528,524 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl119,460,319 - 9,528,524 (+)EnsemblGRCh38hg38GRCh38
GRCh37119,482,559 - 9,550,071 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36119,439,089 - 9,506,647 (+)NCBINCBI36Build 36hg18NCBI36
Build 34119,439,088 - 9,506,188NCBI
Celera119,604,193 - 9,671,660 (+)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef119,153,846 - 9,221,472 (+)NCBIHuRef
CHM1_1119,481,437 - 9,549,032 (+)NCBICHM1_1
T2T-CHM13v2.0119,546,141 - 9,612,748 (+)NCBIT2T-CHM13v2.0
Zfp143
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397109,660,898 - 109,694,603 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7109,660,424 - 109,694,601 (+)EnsemblGRCm39 Ensembl
GRCm387110,061,689 - 110,095,396 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7110,061,217 - 110,095,394 (+)EnsemblGRCm38mm10GRCm38
MGSCv377117,205,216 - 117,238,906 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367109,852,933 - 109,886,404 (+)NCBIMGSCv36mm8
Celera7110,035,478 - 110,069,160 (+)NCBICelera
Cytogenetic Map7E3NCBI
cM Map757.7NCBI
Zfp143
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81173,543,810 - 173,579,667 (+)NCBIGRCr8
mRatBN7.21164,109,041 - 164,144,902 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1164,109,116 - 164,144,902 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1172,445,384 - 172,481,352 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01179,631,385 - 179,667,355 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01172,313,587 - 172,349,560 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01174,702,310 - 174,738,133 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1174,702,373 - 174,738,126 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01181,702,228 - 181,738,051 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41167,704,313 - 167,740,073NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1162,007,136 - 162,042,883 (+)NCBICelera
Cytogenetic Map1q33NCBI
Znf143
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541425,221,440 - 25,255,175 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541425,220,574 - 25,252,962 (+)NCBIChiLan1.0ChiLan1.0
ZNF143
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2911,903,677 - 11,967,867 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11111,862,319 - 11,926,544 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0119,597,377 - 9,661,744 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1119,331,199 - 9,392,754 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl119,331,199 - 9,392,754 (+)Ensemblpanpan1.1panPan2
ZNF143
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12132,757,764 - 32,817,241 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2132,775,394 - 32,817,243 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2132,325,498 - 32,385,206 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02133,636,440 - 33,696,380 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2133,636,448 - 33,696,377 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12132,900,150 - 32,959,597 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02133,066,531 - 33,126,195 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02133,360,300 - 33,420,050 (+)NCBIUU_Cfam_GSD_1.0
Znf143
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494752,580,413 - 52,642,321 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365288,614,180 - 8,676,293 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365288,614,393 - 8,676,301 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF143
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl945,187 - 104,736 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1945,164 - 104,776 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2956,453 - 114,985 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF143
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1155,289,081 - 55,347,413 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl155,289,123 - 55,347,264 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038152,971,945 - 153,035,277 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Znf143
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247661,604,783 - 1,662,595 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247661,604,118 - 1,662,843 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZNF143
128 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.4(chr11:9166889-9494694)x3 copy number gain See cases [RCV000139156] Chr11:9166889..9494694 [GRCh38]
Chr11:9188436..9516241 [GRCh37]
Chr11:9145012..9472817 [NCBI36]
Chr11:11p15.4
uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3 copy number gain See cases [RCV000143490] Chr11:7995676..10437205 [GRCh38]
Chr11:8017223..10458752 [GRCh37]
Chr11:7973799..10415328 [NCBI36]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_003442.6(ZNF143):c.167C>G (p.Ala56Gly) single nucleotide variant not specified [RCV004283648] Chr11:9472731 [GRCh38]
Chr11:9494278 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.23G>A (p.Arg8Gln) single nucleotide variant not specified [RCV004296859] Chr11:9471331 [GRCh38]
Chr11:9492878 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.4(chr11:9502592-9508177)x1 copy number loss not provided [RCV000737424] Chr11:9502592..9508177 [GRCh37]
Chr11:11p15.4
benign
GRCh37/hg19 11p15.4(chr11:9502592-9510715)x1 copy number loss not provided [RCV000749941] Chr11:9502592..9510715 [GRCh37]
Chr11:11p15.4
benign
GRCh37/hg19 11p15.4(chr11:9506109-9508177)x1 copy number loss not provided [RCV000749942] Chr11:9506109..9508177 [GRCh37]
Chr11:11p15.4
benign
GRCh37/hg19 11p15.4(chr11:9506647-9510715)x1 copy number loss not provided [RCV000749943] Chr11:9506647..9510715 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.645+175T>C single nucleotide variant not provided [RCV001539707] Chr11:9479721 [GRCh38]
Chr11:9501268 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1681G>C (p.Glu561Gln) single nucleotide variant ZNF143-related disorder [RCV003976057]|not provided [RCV001707273] Chr11:9516357 [GRCh38]
Chr11:9516357..9516358 [GRCh38]
Chr11:9537904 [GRCh37]
Chr11:9537904..9537905 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.570+5A>G single nucleotide variant ZNF143-related disorder [RCV003913226]|not provided [RCV000947323] Chr11:9478591 [GRCh38]
Chr11:9500138 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1382G>A (p.Gly461Asp) single nucleotide variant ZNF143-related disorder [RCV003913227]|not provided [RCV000947324] Chr11:9512454 [GRCh38]
Chr11:9534001 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.918A>G (p.Lys306=) single nucleotide variant ZNF143-related disorder [RCV003905977]|not provided [RCV000969601] Chr11:9497751 [GRCh38]
Chr11:9519298 [GRCh37]
Chr11:11p15.4
benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
NM_003442.6(ZNF143):c.1007G>A (p.Arg336Gln) single nucleotide variant not specified [RCV004299387] Chr11:9501130 [GRCh38]
Chr11:9522677 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.968-140C>G single nucleotide variant not provided [RCV001595296] Chr11:9500951 [GRCh38]
Chr11:9522498 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.766-193A>G single nucleotide variant not provided [RCV001654121] Chr11:9496110 [GRCh38]
Chr11:9517657 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.645+181G>T single nucleotide variant not provided [RCV001708890] Chr11:9479727 [GRCh38]
Chr11:9501274 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.842-48T>C single nucleotide variant not provided [RCV001676230] Chr11:9497627 [GRCh38]
Chr11:9519174 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.967+187T>C single nucleotide variant not provided [RCV001687671] Chr11:9497987 [GRCh38]
Chr11:9519534 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1148-204G>A single nucleotide variant not provided [RCV001540416] Chr11:9508415 [GRCh38]
Chr11:9529962 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1899G>A (p.Thr633=) single nucleotide variant ZNF143-related disorder [RCV003980798]|not provided [RCV001620857] Chr11:9527595 [GRCh38]
Chr11:9549142 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1525-193del deletion not provided [RCV001620420] Chr11:9516008 [GRCh38]
Chr11:9537555 [GRCh37]
Chr11:11p15.4
benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_003442.6(ZNF143):c.967+47_967+48del deletion not provided [RCV001713573] Chr11:9497829..9497830 [GRCh38]
Chr11:9519376..9519377 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.113-188T>A single nucleotide variant not provided [RCV001618175] Chr11:9472489 [GRCh38]
Chr11:9494036 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.646-7T>C single nucleotide variant ZNF143-related disorder [RCV003968482]|not provided [RCV001688975] Chr11:9494639 [GRCh38]
Chr11:9516186 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1686+69A>G single nucleotide variant not provided [RCV001675496] Chr11:9516431 [GRCh38]
Chr11:9516431..9516432 [GRCh38]
Chr11:9537978 [GRCh37]
Chr11:9537978..9537979 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.967+48del deletion not provided [RCV001637644] Chr11:9497829 [GRCh38]
Chr11:9519376 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.112+133G>T single nucleotide variant not provided [RCV001686993] Chr11:9471553 [GRCh38]
Chr11:9493100 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1687-206T>C single nucleotide variant not provided [RCV001676724] Chr11:9525034 [GRCh38]
Chr11:9546581 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.290-136A>T single nucleotide variant not provided [RCV001594484] Chr11:9474414 [GRCh38]
Chr11:9495961 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.374-117G>A single nucleotide variant not provided [RCV001620598] Chr11:9478273 [GRCh38]
Chr11:9499820 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.967+62G>A single nucleotide variant not provided [RCV001616761] Chr11:9497862 [GRCh38]
Chr11:9519409 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.113-158C>T single nucleotide variant not provided [RCV001614280] Chr11:9472519 [GRCh38]
Chr11:9494066 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.967+117G>A single nucleotide variant not provided [RCV001667284] Chr11:9497917 [GRCh38]
Chr11:9519464 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.968-173T>C single nucleotide variant not provided [RCV001713516] Chr11:9500918 [GRCh38]
Chr11:9522465 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1687-200G>A single nucleotide variant not provided [RCV001527808] Chr11:9525040 [GRCh38]
Chr11:9546587 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.205+162dup duplication not provided [RCV001710949] Chr11:9472914..9472915 [GRCh38]
Chr11:9494461..9494462 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.571-79C>G single nucleotide variant not provided [RCV001648825] Chr11:9479393 [GRCh38]
Chr11:9500940 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.112+132dup duplication not provided [RCV001695568] Chr11:9471551..9471552 [GRCh38]
Chr11:9493098..9493099 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.967+73T>C single nucleotide variant not provided [RCV001671591] Chr11:9497873 [GRCh38]
Chr11:9519420 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.968-71T>C single nucleotide variant not provided [RCV001674668] Chr11:9501020 [GRCh38]
Chr11:9522567 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.112+184G>A single nucleotide variant not provided [RCV001652126] Chr11:9471604 [GRCh38]
Chr11:9493151 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.967+28C>T single nucleotide variant not provided [RCV001650318] Chr11:9497828 [GRCh38]
Chr11:9519375 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1148-152G>A single nucleotide variant not provided [RCV001644298] Chr11:9508467 [GRCh38]
Chr11:9530014 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.968-144C>A single nucleotide variant not provided [RCV001687550] Chr11:9500947 [GRCh38]
Chr11:9522494 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.431A>T (p.Tyr144Phe) single nucleotide variant not provided [RCV002000464] Chr11:9478447 [GRCh38]
Chr11:9499994 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.106G>A (p.Val36Met) single nucleotide variant not provided [RCV001884891]|not specified [RCV004041535] Chr11:9471414 [GRCh38]
Chr11:9492961 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.113-4A>G single nucleotide variant not provided [RCV001922141] Chr11:9472673 [GRCh38]
Chr11:9494220 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1442_1443delinsAC (p.Val481Asp) indel not provided [RCV001978031] Chr11:9512514..9512515 [GRCh38]
Chr11:9534061..9534062 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.402G>A (p.Ala134=) single nucleotide variant not provided [RCV002148867] Chr11:9478418 [GRCh38]
Chr11:9499965 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.570+7C>T single nucleotide variant ZNF143-related disorder [RCV003913642]|not provided [RCV002091312] Chr11:9478593 [GRCh38]
Chr11:9500140 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1686+8C>G single nucleotide variant ZNF143-related disorder [RCV003923430]|not provided [RCV002089876] Chr11:9516370 [GRCh38]
Chr11:9537917 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.942A>G (p.Leu314=) single nucleotide variant not provided [RCV002108508] Chr11:9497775 [GRCh38]
Chr11:9519322 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.525A>G (p.Thr175=) single nucleotide variant not provided [RCV002208428] Chr11:9478541 [GRCh38]
Chr11:9500088 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1743G>A (p.Gly581=) single nucleotide variant not provided [RCV002105076] Chr11:9525296 [GRCh38]
Chr11:9546843 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1484G>A (p.Ser495Asn) single nucleotide variant ZNF143-related disorder [RCV003913659]|not provided [RCV002095927] Chr11:9512556 [GRCh38]
Chr11:9534103 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_003442.6(ZNF143):c.408G>A (p.Gln136=) single nucleotide variant not provided [RCV002152799] Chr11:9478424 [GRCh38]
Chr11:9499971 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1491A>G (p.Gln497=) single nucleotide variant not provided [RCV002117649] Chr11:9512563 [GRCh38]
Chr11:9534110 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.978C>T (p.Pro326=) single nucleotide variant not provided [RCV002082317] Chr11:9501101 [GRCh38]
Chr11:9522648 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.205+16A>G single nucleotide variant not provided [RCV002141620] Chr11:9472785 [GRCh38]
Chr11:9494332 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.1713A>G (p.Ala571=) single nucleotide variant not provided [RCV002137582] Chr11:9525266 [GRCh38]
Chr11:9546813 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.900G>A (p.Ser300=) single nucleotide variant not provided [RCV003110513] Chr11:9497733 [GRCh38]
Chr11:9519280 [GRCh37]
Chr11:11p15.4
likely benign
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2
pathogenic
NM_003442.6(ZNF143):c.1412C>T (p.Thr471Met) single nucleotide variant not provided [RCV002750344] Chr11:9512484 [GRCh38]
Chr11:9534031 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.926A>G (p.Lys309Arg) single nucleotide variant not provided [RCV002730811] Chr11:9497759 [GRCh38]
Chr11:9519306 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1132G>A (p.Val378Met) single nucleotide variant not specified [RCV004107547] Chr11:9501255 [GRCh38]
Chr11:9522802 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.325G>A (p.Val109Ile) single nucleotide variant not specified [RCV004214425] Chr11:9474585 [GRCh38]
Chr11:9496132 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.516G>A (p.Gly172=) single nucleotide variant not provided [RCV002975475] Chr11:9478532 [GRCh38]
Chr11:9500079 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.757C>G (p.His253Asp) single nucleotide variant not specified [RCV004120087] Chr11:9494757 [GRCh38]
Chr11:9516304 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.281C>T (p.Pro94Leu) single nucleotide variant not specified [RCV004171476] Chr11:9474016 [GRCh38]
Chr11:9495563 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.570+17T>C single nucleotide variant not provided [RCV002696074] Chr11:9478603 [GRCh38]
Chr11:9500150 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.706G>C (p.Ala236Pro) single nucleotide variant not specified [RCV004100994] Chr11:9494706 [GRCh38]
Chr11:9516253 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1811A>G (p.Asn604Ser) single nucleotide variant not provided [RCV002909710] Chr11:9525364 [GRCh38]
Chr11:9546911 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.69G>T (p.Ala23=) single nucleotide variant not provided [RCV003081241] Chr11:9471377 [GRCh38]
Chr11:9492924 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.271G>A (p.Val91Ile) single nucleotide variant not provided [RCV003019956] Chr11:9474006 [GRCh38]
Chr11:9495553 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.851T>G (p.Leu284Ter) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV003037108] Chr11:9497684 [GRCh38]
Chr11:9519231 [GRCh37]
Chr11:11p15.4
not provided
NM_003442.6(ZNF143):c.1019C>T (p.Thr340Ile) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV003037109] Chr11:9501142 [GRCh38]
Chr11:9522689 [GRCh37]
Chr11:11p15.4
not provided
NM_003442.6(ZNF143):c.363C>T (p.His121=) single nucleotide variant not provided [RCV002780266] Chr11:9474623 [GRCh38]
Chr11:9496170 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1321A>T (p.Asn441Tyr) single nucleotide variant not specified [RCV004105181] Chr11:9508792 [GRCh38]
Chr11:9530339 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.282T>C (p.Pro94=) single nucleotide variant not provided [RCV002959066] Chr11:9474017 [GRCh38]
Chr11:9495564 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.578T>C (p.Ile193Thr) single nucleotide variant not provided [RCV002959026]|not specified [RCV004686750] Chr11:9479479 [GRCh38]
Chr11:9501026 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1042G>A (p.Val348Ile) single nucleotide variant not specified [RCV004096626] Chr11:9501165 [GRCh38]
Chr11:9522712 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.134T>C (p.Met45Thr) single nucleotide variant not provided [RCV003561159]|not specified [RCV004222977] Chr11:9472698 [GRCh38]
Chr11:9494245 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.967+8T>C single nucleotide variant ZNF143-related disorder [RCV003943638]|not provided [RCV002958720] Chr11:9497808 [GRCh38]
Chr11:9519355 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_003442.6(ZNF143):c.150G>T (p.Leu50Phe) single nucleotide variant not specified [RCV004129410] Chr11:9472714 [GRCh38]
Chr11:9494261 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.631G>A (p.Glu211Lys) single nucleotide variant not specified [RCV004171790] Chr11:9479532 [GRCh38]
Chr11:9501079 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.113-5A>G single nucleotide variant not provided [RCV002627106] Chr11:9472672 [GRCh38]
Chr11:9494219 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1131T>C (p.His377=) single nucleotide variant not provided [RCV002572611] Chr11:9501254 [GRCh38]
Chr11:9522801 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1834-18T>C single nucleotide variant not provided [RCV002853042] Chr11:9527512 [GRCh38]
Chr11:9549059 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.322G>A (p.Ala108Thr) single nucleotide variant not provided [RCV002602717] Chr11:9474582 [GRCh38]
Chr11:9496129 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1375+10T>G single nucleotide variant not provided [RCV003063871] Chr11:9508856 [GRCh38]
Chr11:9530403 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1355C>T (p.Ala452Val) single nucleotide variant not provided [RCV003546860]|not specified [RCV004072594] Chr11:9508826 [GRCh38]
Chr11:9530373 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.492G>A (p.Gly164=) single nucleotide variant not provided [RCV002646745] Chr11:9478508 [GRCh38]
Chr11:9500055 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.570+6G>C single nucleotide variant not provided [RCV002934052] Chr11:9478592 [GRCh38]
Chr11:9500139 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.593G>C (p.Ser198Thr) single nucleotide variant not provided [RCV002810343] Chr11:9479494 [GRCh38]
Chr11:9501041 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.113-7del deletion not provided [RCV002811261] Chr11:9472670 [GRCh38]
Chr11:9494217 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1581G>A (p.Thr527=) single nucleotide variant not provided [RCV002631828] Chr11:9516257 [GRCh38]
Chr11:9537804 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1375+17C>T single nucleotide variant not provided [RCV002630862] Chr11:9508863 [GRCh38]
Chr11:9530410 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1767A>T (p.Leu589Phe) single nucleotide variant not provided [RCV002630863] Chr11:9525320 [GRCh38]
Chr11:9546867 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1075T>C (p.Cys359Arg) single nucleotide variant not provided [RCV002580690] Chr11:9501198 [GRCh38]
Chr11:9522745 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1044T>A (p.Val348=) single nucleotide variant not provided [RCV002877211] Chr11:9501167 [GRCh38]
Chr11:9522714 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1593G>T (p.Thr531=) single nucleotide variant not provided [RCV003061984] Chr11:9516269 [GRCh38]
Chr11:9537816 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.374-17C>T single nucleotide variant not provided [RCV002635936] Chr11:9478373 [GRCh38]
Chr11:9499920 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1782C>G (p.Thr594=) single nucleotide variant not provided [RCV003069798] Chr11:9525335 [GRCh38]
Chr11:9546882 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1547T>C (p.Met516Thr) single nucleotide variant not provided [RCV003708754]|not specified [RCV004313337] Chr11:9516223 [GRCh38]
Chr11:9537770 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1420A>G (p.Thr474Ala) single nucleotide variant not specified [RCV004263618] Chr11:9512492 [GRCh38]
Chr11:9534039 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1640C>T (p.Thr547Met) single nucleotide variant not provided [RCV003575078]|not specified [RCV004337345] Chr11:9516316 [GRCh38]
Chr11:9537863 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1187A>G (p.Lys396Arg) single nucleotide variant not provided [RCV003874429] Chr11:9508658 [GRCh38]
Chr11:9530205 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1700C>G (p.Ala567Gly) single nucleotide variant not provided [RCV003569159] Chr11:9525253 [GRCh38]
Chr11:9546800 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1311G>A (p.Arg437=) single nucleotide variant not provided [RCV003829034] Chr11:9508782 [GRCh38]
Chr11:9530329 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.570+16A>G single nucleotide variant not provided [RCV003824772] Chr11:9478602 [GRCh38]
Chr11:9500149 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.148T>G (p.Leu50Val) single nucleotide variant not provided [RCV003691571] Chr11:9472712 [GRCh38]
Chr11:9494259 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1917A>G (p.Ter639=) single nucleotide variant not provided [RCV003879363] Chr11:9527613 [GRCh38]
Chr11:9549160 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1608C>T (p.Pro536=) single nucleotide variant not provided [RCV003726901] Chr11:9516284 [GRCh38]
Chr11:9537831 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.389G>A (p.Ser130Asn) single nucleotide variant not provided [RCV003856764] Chr11:9478405 [GRCh38]
Chr11:9499952 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1611C>G (p.Ala537=) single nucleotide variant not provided [RCV003849823] Chr11:9516287 [GRCh38]
Chr11:9537834 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.272T>C (p.Val91Ala) single nucleotide variant not provided [RCV003726627] Chr11:9474007 [GRCh38]
Chr11:9495554 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.993C>T (p.Phe331=) single nucleotide variant not provided [RCV003725635] Chr11:9501116 [GRCh38]
Chr11:9522663 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.645+18T>C single nucleotide variant not provided [RCV003810894] Chr11:9479564 [GRCh38]
Chr11:9501111 [GRCh37]
Chr11:11p15.4
benign
NM_003442.6(ZNF143):c.570+15A>T single nucleotide variant not provided [RCV003673048] Chr11:9478601 [GRCh38]
Chr11:9500148 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.45G>A (p.Glu15=) single nucleotide variant not provided [RCV003833837] Chr11:9471353 [GRCh38]
Chr11:9492900 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.123C>G (p.Asn41Lys) single nucleotide variant not provided [RCV003668027] Chr11:9472687 [GRCh38]
Chr11:9494234 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1293G>A (p.Thr431=) single nucleotide variant not provided [RCV003835335] Chr11:9508764 [GRCh38]
Chr11:9530311 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.113-15A>G single nucleotide variant not provided [RCV003856973] Chr11:9472662 [GRCh38]
Chr11:9494209 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.870T>G (p.Thr290=) single nucleotide variant not provided [RCV003556729] Chr11:9497703 [GRCh38]
Chr11:9519250 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1647T>C (p.Ser549=) single nucleotide variant not provided [RCV003818978] Chr11:9516323 [GRCh38]
Chr11:9537870 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1290C>T (p.Ser430=) single nucleotide variant not provided [RCV003550755] Chr11:9508761 [GRCh38]
Chr11:9530308 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.422C>T (p.Thr141Ile) single nucleotide variant not provided [RCV003869584] Chr11:9478438 [GRCh38]
Chr11:9499985 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.208G>A (p.Ala70Thr) single nucleotide variant not provided [RCV003867847] Chr11:9473943 [GRCh38]
Chr11:9495490 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1594C>A (p.Pro532Thr) single nucleotide variant not provided [RCV003568506] Chr11:9516270 [GRCh38]
Chr11:9537817 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1531A>G (p.Ile511Val) single nucleotide variant not provided [RCV003848036] Chr11:9516207 [GRCh38]
Chr11:9537754 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.206-4A>C single nucleotide variant ZNF143-related disorder [RCV003899681] Chr11:9473937 [GRCh38]
Chr11:9495484 [GRCh37]
Chr11:11p15.4
likely benign
NM_003442.6(ZNF143):c.1669G>A (p.Gly557Ser) single nucleotide variant not specified [RCV004491449] Chr11:9516345 [GRCh38]
Chr11:9537892 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.35G>A (p.Gly12Glu) single nucleotide variant not specified [RCV004491451] Chr11:9471343 [GRCh38]
Chr11:9492890 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1513G>A (p.Gly505Arg) single nucleotide variant not specified [RCV004491448] Chr11:9512585 [GRCh38]
Chr11:9534132 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.191A>G (p.Gln64Arg) single nucleotide variant not specified [RCV004491450] Chr11:9472755 [GRCh38]
Chr11:9494302 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:8548056-10497905)x3 copy number gain not provided [RCV004577481] Chr11:8548056..10497905 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1297G>T (p.Ala433Ser) single nucleotide variant not specified [RCV004687503] Chr11:9508768 [GRCh38]
Chr11:9530315 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1904G>A (p.Gly635Glu) single nucleotide variant not specified [RCV004687504] Chr11:9527600 [GRCh38]
Chr11:9549147 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_003442.6(ZNF143):c.1054A>G (p.Thr352Ala) single nucleotide variant not specified [RCV004687505] Chr11:9501177 [GRCh38]
Chr11:9522724 [GRCh37]
Chr11:11p15.4
uncertain significance
T340I variation not provided [RCV004722384]   uncertain significance
L284* variation not provided [RCV004722383]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2304
Count of miRNA genes:827
Interacting mature miRNAs:934
Transcripts:ENST00000299606, ENST00000396597, ENST00000396602, ENST00000396604, ENST00000412390, ENST00000414370, ENST00000417726, ENST00000438144, ENST00000447186, ENST00000496276, ENST00000526657, ENST00000527597, ENST00000530463, ENST00000531943, ENST00000532305, ENST00000532577, ENST00000533542, ENST00000534265
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
1576345LVC1_HLeft ventricular contractility QTL 1 (human)3.93Left ventricular contractility11797076733970767Human
407018400GWAS667376_Hbody height QTL GWAS667376 (human)3e-12body height (VT:0001253)body height (CMO:0000106)1195164319516432Human
2289313BW388_HBody weight QTL 388 (human)1.570.00356Body fat amountabdominal11443467130434671Human
407305157GWAS954133_Hlean body mass QTL GWAS954133 (human)6e-10body lean mass (VT:0010483)total body lean mass (CMO:0003950)1194613249461325Human
407196161GWAS845137_Hbody weight QTL GWAS845137 (human)2e-13body mass (VT:0001259)body weight (CMO:0000012)1195154979515498Human
407325423GWAS974399_Hbeverage consumption measurement QTL GWAS974399 (human)5e-16beverage consumption measurementdrink intake measurement (CMO:0000771)1194780279478028Human
407020875GWAS669851_Hbody height QTL GWAS669851 (human)9e-26body height (VT:0001253)body height (CMO:0000106)1194613249461325Human
407292463GWAS941439_Hbody height QTL GWAS941439 (human)8e-17body height (VT:0001253)body height (CMO:0000106)1195223699522370Human
407109614GWAS758590_Hbody height QTL GWAS758590 (human)1e-09body height (VT:0001253)body height (CMO:0000106)1195005909500591Human
406913073GWAS562049_Hhip circumference QTL GWAS562049 (human)0.000004hip circumferencehip circumference (CMO:0000014)1195027089502709Human
406916144GWAS565120_Hbody height QTL GWAS565120 (human)4e-08body height (VT:0001253)body height (CMO:0000106)1195154979515498Human
407306613GWAS955589_Hlean body mass QTL GWAS955589 (human)8e-12body lean mass (VT:0010483)total body lean mass (CMO:0003950)1195181169518117Human
407116791GWAS765767_Hbody height QTL GWAS765767 (human)5e-22body height (VT:0001253)body height (CMO:0000106)1195158699515870Human
1559107SCL32_HSerum cholesterol level QTL 32 (human)3.27Lipid levelLDL cholesterol11289243028892430Human
407020404GWAS669380_Hbody height QTL GWAS669380 (human)9e-11body height (VT:0001253)body height (CMO:0000106)1194699279469928Human
407283921GWAS932897_Hbody height QTL GWAS932897 (human)1e-77body height (VT:0001253)body height (CMO:0000106)1194613249461325Human
407190844GWAS839820_Hbody height QTL GWAS839820 (human)1e-16body height (VT:0001253)body height (CMO:0000106)1195158699515870Human
407324602GWAS973578_Hbody height QTL GWAS973578 (human)9e-21body height (VT:0001253)body height (CMO:0000106)1195163579516358Human
1559113SCL31_HSerum cholesterol level QTL 31 (human)3.72Lipid levelLDL cholesterol11289243028892430Human

Markers in Region
STS-AA007424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37119,481,133 - 9,481,370UniSTSGRCh37
Build 36119,437,709 - 9,437,946RGDNCBI36
Celera119,602,814 - 9,603,051RGD
Cytogenetic Map11p15.4UniSTS
HuRef119,152,467 - 9,152,704UniSTS
GeneMap99-GB4 RH Map1145.29UniSTS
NCBI RH Map1126.6UniSTS
SHGC-36264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37119,549,921 - 9,550,029UniSTSGRCh37
Build 36119,506,497 - 9,506,605RGDNCBI36
Celera119,671,510 - 9,671,618RGD
Cytogenetic Map11p15.4UniSTS
HuRef119,221,322 - 9,221,430UniSTS
TNG Radiation Hybrid Map114556.0UniSTS
GeneMap99-G3 RH Map11300.0UniSTS
RH103135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37119,481,207 - 9,481,388UniSTSGRCh37
Build 36119,437,783 - 9,437,964RGDNCBI36
Celera119,602,888 - 9,603,069RGD
Cytogenetic Map11p15.4UniSTS
HuRef119,152,541 - 9,152,722UniSTS
GeneMap99-GB4 RH Map1145.25UniSTS
SHGC-141920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37119,550,118 - 9,550,421UniSTSGRCh37
Build 36119,506,694 - 9,506,997RGDNCBI36
Celera119,671,707 - 9,672,010RGD
Cytogenetic Map11p15.4UniSTS
HuRef119,221,519 - 9,221,822UniSTS
TNG Radiation Hybrid Map114556.0UniSTS
STS-U09850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37119,549,155 - 9,549,308UniSTSGRCh37
Build 36119,505,731 - 9,505,884RGDNCBI36
Celera119,670,744 - 9,670,897RGD
Cytogenetic Map11p15.4UniSTS
HuRef119,220,556 - 9,220,709UniSTS
GeneMap99-GB4 RH Map1145.19UniSTS
NCBI RH Map1128.8UniSTS
STS-H99156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37119,549,575 - 9,549,729UniSTSGRCh37
Build 36119,506,151 - 9,506,305RGDNCBI36
Celera119,671,164 - 9,671,318RGD
Cytogenetic Map11p15.4UniSTS
HuRef119,220,976 - 9,221,130UniSTS
GeneMap99-GB4 RH Map1145.19UniSTS
NCBI RH Map1148.4UniSTS
RH45706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37119,514,297 - 9,514,463UniSTSGRCh37
Build 36119,470,873 - 9,471,039RGDNCBI36
Celera119,635,889 - 9,636,055RGD
Cytogenetic Map11p15.4UniSTS
HuRef119,185,976 - 9,186,142UniSTS
GeneMap99-GB4 RH Map1144.64UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC127030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC132192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF071771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ295844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW162015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF515092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG825506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN295530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000299606   ⟹   ENSP00000299606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,461,023 - 9,528,281 (+)Ensembl
Ensembl Acc Id: ENST00000396597   ⟹   ENSP00000379843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,460,987 - 9,527,646 (+)Ensembl
Ensembl Acc Id: ENST00000396602   ⟹   ENSP00000379847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,461,012 - 9,528,524 (+)Ensembl
Ensembl Acc Id: ENST00000396604   ⟹   ENSP00000379849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,460,522 - 9,528,054 (+)Ensembl
Ensembl Acc Id: ENST00000412390   ⟹   ENSP00000388628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,461,057 - 9,478,446 (+)Ensembl
Ensembl Acc Id: ENST00000414370   ⟹   ENSP00000395221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,461,648 - 9,473,986 (+)Ensembl
Ensembl Acc Id: ENST00000417726   ⟹   ENSP00000392323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,462,002 - 9,473,954 (+)Ensembl
Ensembl Acc Id: ENST00000438144   ⟹   ENSP00000409432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,461,006 - 9,478,586 (+)Ensembl
Ensembl Acc Id: ENST00000447186   ⟹   ENSP00000401493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,512,497 - 9,525,479 (+)Ensembl
Ensembl Acc Id: ENST00000496276   ⟹   ENSP00000431306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,461,012 - 9,478,434 (+)Ensembl
Ensembl Acc Id: ENST00000526657   ⟹   ENSP00000435881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,461,013 - 9,478,518 (+)Ensembl
Ensembl Acc Id: ENST00000527597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,471,107 - 9,472,716 (+)Ensembl
Ensembl Acc Id: ENST00000530463   ⟹   ENSP00000432154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,460,976 - 9,527,613 (+)Ensembl
Ensembl Acc Id: ENST00000531943   ⟹   ENSP00000434638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,460,319 - 9,478,424 (+)Ensembl
Ensembl Acc Id: ENST00000532305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,525,221 - 9,527,952 (+)Ensembl
Ensembl Acc Id: ENST00000532577   ⟹   ENSP00000433221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,460,985 - 9,478,472 (+)Ensembl
Ensembl Acc Id: ENST00000533542   ⟹   ENSP00000434922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,460,982 - 9,479,522 (+)Ensembl
Ensembl Acc Id: ENST00000534265   ⟹   ENSP00000433743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl119,461,027 - 9,478,541 (+)Ensembl
RefSeq Acc Id: NM_001282656   ⟹   NP_001269585
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
HuRef119,153,846 - 9,221,472 (+)NCBI
CHM1_1119,481,437 - 9,549,032 (+)NCBI
T2T-CHM13v2.0119,546,141 - 9,612,748 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282657   ⟹   NP_001269586
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
HuRef119,153,846 - 9,221,472 (+)NCBI
CHM1_1119,481,437 - 9,549,032 (+)NCBI
T2T-CHM13v2.0119,546,141 - 9,612,748 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003442   ⟹   NP_003433
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
GRCh37119,482,512 - 9,550,071 (+)ENTREZGENE
GRCh37119,482,512 - 9,550,071 (+)NCBI
Build 36119,439,089 - 9,506,647 (+)NCBI Archive
HuRef119,153,846 - 9,221,472 (+)ENTREZGENE
CHM1_1119,481,437 - 9,549,032 (+)NCBI
T2T-CHM13v2.0119,546,141 - 9,612,748 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253121   ⟹   XP_005253178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
GRCh37119,482,512 - 9,550,071 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253122   ⟹   XP_005253179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
GRCh37119,482,512 - 9,550,071 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520349   ⟹   XP_011518651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018252   ⟹   XP_016873741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018253   ⟹   XP_016873742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018254   ⟹   XP_016873743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,463,279 - 9,528,524 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018255   ⟹   XP_016873744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,469,730 - 9,528,524 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427552   ⟹   XP_047283508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_047427553   ⟹   XP_047283509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_047427554   ⟹   XP_047283510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,463,279 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_047427555   ⟹   XP_047283511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,469,730 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_047427556   ⟹   XP_047283512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_047427557   ⟹   XP_047283513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_047427558   ⟹   XP_047283514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,469,815 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_047427559   ⟹   XP_047283515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_047427560   ⟹   XP_047283516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,463,279 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_047427561   ⟹   XP_047283517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,472,676 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_047427562   ⟹   XP_047283518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,472,676 - 9,528,524 (+)NCBI
RefSeq Acc Id: XM_054369870   ⟹   XP_054225845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,546,141 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369871   ⟹   XP_054225846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,546,141 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369872   ⟹   XP_054225847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,546,141 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369873   ⟹   XP_054225848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,546,141 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369874   ⟹   XP_054225849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,555,110 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369875   ⟹   XP_054225850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,548,406 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369876   ⟹   XP_054225851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,546,228 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369877   ⟹   XP_054225852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,546,239 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369878   ⟹   XP_054225853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,548,406 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369879   ⟹   XP_054225854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,554,847 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369880   ⟹   XP_054225855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,546,239 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369881   ⟹   XP_054225856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,546,212 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369882   ⟹   XP_054225857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,554,847 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369883   ⟹   XP_054225858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,554,932 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369884   ⟹   XP_054225859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,546,239 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369885   ⟹   XP_054225860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,548,406 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369886   ⟹   XP_054225861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,557,792 - 9,612,748 (+)NCBI
RefSeq Acc Id: XM_054369887   ⟹   XP_054225862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,557,792 - 9,612,748 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001269585 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269586 (Get FASTA)   NCBI Sequence Viewer  
  NP_003433 (Get FASTA)   NCBI Sequence Viewer  
  XP_005253178 (Get FASTA)   NCBI Sequence Viewer  
  XP_005253179 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518651 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873741 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873742 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873743 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873744 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283508 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283509 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283510 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283511 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283512 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283513 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283514 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283515 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283516 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283517 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283518 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225845 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225846 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225847 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225848 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225849 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225850 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225851 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225852 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225853 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225854 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225855 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225856 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225857 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225858 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225859 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225860 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225861 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225862 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC96102 (Get FASTA)   NCBI Sequence Viewer  
  AAH20219 (Get FASTA)   NCBI Sequence Viewer  
  BAF83822 (Get FASTA)   NCBI Sequence Viewer  
  BAG59697 (Get FASTA)   NCBI Sequence Viewer  
  CAC14172 (Get FASTA)   NCBI Sequence Viewer  
  CAC17610 (Get FASTA)   NCBI Sequence Viewer  
  EAW68589 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000299606.2
  ENSP00000379843
  ENSP00000379843.3
  ENSP00000379847
  ENSP00000379847.2
  ENSP00000379849.1
  ENSP00000388628.2
  ENSP00000392323.1
  ENSP00000395221.1
  ENSP00000401493.1
  ENSP00000409432.2
  ENSP00000431306.1
  ENSP00000432154
  ENSP00000432154.1
  ENSP00000433221.1
  ENSP00000433743.1
  ENSP00000434638.1
  ENSP00000434922.1
  ENSP00000435881.1
GenBank Protein P52747 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003433   ⟸   NM_003442
- Peptide Label: isoform 1
- UniProtKB: O75559 (UniProtKB/Swiss-Prot),   E7ER34 (UniProtKB/Swiss-Prot),   B4DLY5 (UniProtKB/Swiss-Prot),   A8K518 (UniProtKB/Swiss-Prot),   Q8WUK9 (UniProtKB/Swiss-Prot),   P52747 (UniProtKB/Swiss-Prot),   E7EN86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005253179   ⟸   XM_005253122
- Peptide Label: isoform X2
- UniProtKB: E7EN86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005253178   ⟸   XM_005253121
- Peptide Label: isoform X1
- UniProtKB: E7EN86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269585   ⟸   NM_001282656
- Peptide Label: isoform 2
- UniProtKB: E7EN86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269586   ⟸   NM_001282657
- Peptide Label: isoform 3
- UniProtKB: E7EN86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011518651   ⟸   XM_011520349
- Peptide Label: isoform X5
- UniProtKB: O75559 (UniProtKB/Swiss-Prot),   E7ER34 (UniProtKB/Swiss-Prot),   B4DLY5 (UniProtKB/Swiss-Prot),   A8K518 (UniProtKB/Swiss-Prot),   Q8WUK9 (UniProtKB/Swiss-Prot),   P52747 (UniProtKB/Swiss-Prot),   E7EN86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873741   ⟸   XM_017018252
- Peptide Label: isoform X3
- UniProtKB: E7EN86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873742   ⟸   XM_017018253
- Peptide Label: isoform X4
- UniProtKB: E7EN86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873743   ⟸   XM_017018254
- Peptide Label: isoform X6
- UniProtKB: E7EN86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873744   ⟸   XM_017018255
- Peptide Label: isoform X6
- UniProtKB: E7EN86 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000409432   ⟸   ENST00000438144
Ensembl Acc Id: ENSP00000432154   ⟸   ENST00000530463
Ensembl Acc Id: ENSP00000388628   ⟸   ENST00000412390
Ensembl Acc Id: ENSP00000434638   ⟸   ENST00000531943
Ensembl Acc Id: ENSP00000395221   ⟸   ENST00000414370
Ensembl Acc Id: ENSP00000433221   ⟸   ENST00000532577
Ensembl Acc Id: ENSP00000434922   ⟸   ENST00000533542
Ensembl Acc Id: ENSP00000433743   ⟸   ENST00000534265
Ensembl Acc Id: ENSP00000299606   ⟸   ENST00000299606
Ensembl Acc Id: ENSP00000392323   ⟸   ENST00000417726
Ensembl Acc Id: ENSP00000431306   ⟸   ENST00000496276
Ensembl Acc Id: ENSP00000401493   ⟸   ENST00000447186
Ensembl Acc Id: ENSP00000435881   ⟸   ENST00000526657
Ensembl Acc Id: ENSP00000379843   ⟸   ENST00000396597
Ensembl Acc Id: ENSP00000379849   ⟸   ENST00000396604
Ensembl Acc Id: ENSP00000379847   ⟸   ENST00000396602
RefSeq Acc Id: XP_047283509   ⟸   XM_047427553
- Peptide Label: isoform X5
- UniProtKB: P52747 (UniProtKB/Swiss-Prot),   O75559 (UniProtKB/Swiss-Prot),   E7ER34 (UniProtKB/Swiss-Prot),   B4DLY5 (UniProtKB/Swiss-Prot),   A8K518 (UniProtKB/Swiss-Prot),   Q8WUK9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047283513   ⟸   XM_047427557
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047283508   ⟸   XM_047427552
- Peptide Label: isoform X5
- UniProtKB: P52747 (UniProtKB/Swiss-Prot),   O75559 (UniProtKB/Swiss-Prot),   E7ER34 (UniProtKB/Swiss-Prot),   B4DLY5 (UniProtKB/Swiss-Prot),   A8K518 (UniProtKB/Swiss-Prot),   Q8WUK9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047283512   ⟸   XM_047427556
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047283515   ⟸   XM_047427559
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047283510   ⟸   XM_047427554
- Peptide Label: isoform X5
- UniProtKB: P52747 (UniProtKB/Swiss-Prot),   O75559 (UniProtKB/Swiss-Prot),   E7ER34 (UniProtKB/Swiss-Prot),   B4DLY5 (UniProtKB/Swiss-Prot),   A8K518 (UniProtKB/Swiss-Prot),   Q8WUK9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047283516   ⟸   XM_047427560
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047283511   ⟸   XM_047427555
- Peptide Label: isoform X5
- UniProtKB: P52747 (UniProtKB/Swiss-Prot),   O75559 (UniProtKB/Swiss-Prot),   E7ER34 (UniProtKB/Swiss-Prot),   B4DLY5 (UniProtKB/Swiss-Prot),   A8K518 (UniProtKB/Swiss-Prot),   Q8WUK9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047283514   ⟸   XM_047427558
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047283517   ⟸   XM_047427561
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047283518   ⟸   XM_047427562
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054225845   ⟸   XM_054369870
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054225846   ⟸   XM_054369871
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054225847   ⟸   XM_054369872
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054225848   ⟸   XM_054369873
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054225856   ⟸   XM_054369881
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054225851   ⟸   XM_054369876
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225852   ⟸   XM_054369877
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225855   ⟸   XM_054369880
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054225859   ⟸   XM_054369884
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054225853   ⟸   XM_054369878
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225850   ⟸   XM_054369875
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054225860   ⟸   XM_054369885
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054225854   ⟸   XM_054369879
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225857   ⟸   XM_054369882
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054225858   ⟸   XM_054369883
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054225849   ⟸   XM_054369874
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225861   ⟸   XM_054369886
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054225862   ⟸   XM_054369887
- Peptide Label: isoform X8
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52747-F1-model_v2 AlphaFold P52747 1-638 view protein structure

Promoters
RGD ID:6788800
Promoter ID:HG_KWN:12297
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000299606,   ENST00000396602,   ENST00000396604,   OTTHUMT00000313922,   OTTHUMT00000313926,   OTTHUMT00000313928,   UC009YFU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36119,437,946 - 9,439,142 (+)MPROMDB
RGD ID:6789600
Promoter ID:HG_KWN:12298
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000313924,   OTTHUMT00000313925
Position:
Human AssemblyChrPosition (strand)Source
Build 36119,439,246 - 9,440,147 (+)MPROMDB
RGD ID:7219615
Promoter ID:EPDNEW_H15553
Type:initiation region
Name:ZNF143_1
Description:zinc finger protein 143
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15554  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,012 - 9,461,072EPDNEW
RGD ID:7219617
Promoter ID:EPDNEW_H15554
Type:multiple initiation site
Name:ZNF143_2
Description:zinc finger protein 143
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15553  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38119,461,113 - 9,461,173EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12928 AgrOrtholog
COSMIC ZNF143 COSMIC
Ensembl Genes ENSG00000166478 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000299606.6 UniProtKB/TrEMBL
  ENST00000396597 ENTREZGENE
  ENST00000396597.7 UniProtKB/Swiss-Prot
  ENST00000396602 ENTREZGENE
  ENST00000396602.7 UniProtKB/Swiss-Prot
  ENST00000396604.5 UniProtKB/Swiss-Prot
  ENST00000412390.6 UniProtKB/TrEMBL
  ENST00000414370.5 UniProtKB/TrEMBL
  ENST00000417726.1 UniProtKB/TrEMBL
  ENST00000438144.6 UniProtKB/TrEMBL
  ENST00000447186.1 UniProtKB/TrEMBL
  ENST00000496276.5 UniProtKB/TrEMBL
  ENST00000526657.5 UniProtKB/TrEMBL
  ENST00000530463 ENTREZGENE
  ENST00000530463.5 UniProtKB/Swiss-Prot
  ENST00000531943.5 UniProtKB/TrEMBL
  ENST00000532577.5 UniProtKB/TrEMBL
  ENST00000533542.5 UniProtKB/TrEMBL
  ENST00000534265.5 UniProtKB/TrEMBL
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166478 GTEx
HGNC ID HGNC:12928 ENTREZGENE
Human Proteome Map ZNF143 Human Proteome Map
InterPro GLI_C2H2-zinc-finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7702 UniProtKB/Swiss-Prot
NCBI Gene 7702 ENTREZGENE
OMIM 603433 OMIM
PANTHER ZINC FINGER PROTEIN 76 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER PROTEIN ZIC AND GLI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37515 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K518 ENTREZGENE
  B4DLY5 ENTREZGENE
  C9J2G7_HUMAN UniProtKB/TrEMBL
  C9JCG1_HUMAN UniProtKB/TrEMBL
  C9JRS3_HUMAN UniProtKB/TrEMBL
  C9JTC5_HUMAN UniProtKB/TrEMBL
  E7EN86 ENTREZGENE, UniProtKB/TrEMBL
  E7ER34 ENTREZGENE
  E9PJF2_HUMAN UniProtKB/TrEMBL
  E9PLN4_HUMAN UniProtKB/TrEMBL
  E9PLS7_HUMAN UniProtKB/TrEMBL
  E9PMY8_HUMAN UniProtKB/TrEMBL
  E9PPB0_HUMAN UniProtKB/TrEMBL
  E9PS81_HUMAN UniProtKB/TrEMBL
  H7C1P6_HUMAN UniProtKB/TrEMBL
  O75559 ENTREZGENE
  P52747 ENTREZGENE
  Q8WUK9 ENTREZGENE
  Q9H176_HUMAN UniProtKB/TrEMBL
  Q9H4D4_HUMAN UniProtKB/TrEMBL
  ZN143_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K518 UniProtKB/Swiss-Prot
  B4DLY5 UniProtKB/Swiss-Prot
  E7ER34 UniProtKB/Swiss-Prot
  O75559 UniProtKB/Swiss-Prot
  Q8WUK9 UniProtKB/Swiss-Prot