ZNF142 (zinc finger protein 142) - Rat Genome Database

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Gene: ZNF142 (zinc finger protein 142) Homo sapiens
Analyze
Symbol: ZNF142
Name: zinc finger protein 142
RGD ID: 1320100
HGNC Page HGNC:12927
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HA4654; NEDISHM; pHZ-49; zinc finger protein 142 (clone pHZ-49)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,633,329 - 218,659,623 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,633,329 - 218,659,655 (-)EnsemblGRCh38hg38GRCh38
GRCh372219,498,052 - 219,524,346 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,210,883 - 219,232,599 (-)NCBINCBI36Build 36hg18NCBI36
Build 342219,328,143 - 219,349,860NCBI
Celera2213,270,397 - 213,292,019 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,356,096 - 211,377,844 (-)NCBIHuRef
CHM1_12219,509,613 - 219,531,330 (-)NCBICHM1_1
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cellular_component  (ND)
nucleus  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7557990   PMID:8889548   PMID:9039502   PMID:12477932   PMID:14702039   PMID:16730941   PMID:17081983   PMID:20379614   PMID:20881960   PMID:20936779   PMID:21873635   PMID:22658674  
PMID:22959728   PMID:24104479   PMID:25963833   PMID:28514442   PMID:29180619   PMID:29507755   PMID:31182584   PMID:31586073   PMID:33961781   PMID:34531528   PMID:35616059   PMID:35618198  
PMID:37496384   PMID:37827155  


Genomics

Comparative Map Data
ZNF142
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,633,329 - 218,659,623 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,633,329 - 218,659,655 (-)EnsemblGRCh38hg38GRCh38
GRCh372219,498,052 - 219,524,346 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,210,883 - 219,232,599 (-)NCBINCBI36Build 36hg18NCBI36
Build 342219,328,143 - 219,349,860NCBI
Celera2213,270,397 - 213,292,019 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,356,096 - 211,377,844 (-)NCBIHuRef
CHM1_12219,509,613 - 219,531,330 (-)NCBICHM1_1
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBIT2T-CHM13v2.0
Zfp142
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39174,605,490 - 74,627,308 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl174,604,286 - 74,627,405 (-)EnsemblGRCm39 Ensembl
GRCm38174,566,331 - 74,588,133 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl174,565,127 - 74,588,246 (-)EnsemblGRCm38mm10GRCm38
MGSCv37174,611,702 - 74,634,602 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36174,611,702 - 74,634,602 (-)NCBIMGSCv36mm8
Celera175,122,820 - 75,145,715 (-)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.54NCBI
Zfp142
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8983,591,318 - 83,613,896 (-)NCBIGRCr8
mRatBN7.2976,141,053 - 76,164,784 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,142,227 - 76,164,856 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx984,587,296 - 84,609,881 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0989,716,247 - 89,738,830 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,102,427 - 88,125,012 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0981,844,138 - 81,868,086 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl981,844,138 - 81,868,086 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0981,608,286 - 81,630,468 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4973,904,901 - 73,938,845 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,053,023 - 74,071,913 (-)NCBI
Celera973,715,361 - 73,737,373 (-)NCBICelera
Cytogenetic Map9q33NCBI
Znf142
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545314,766,665 - 14,786,403 (+)NCBIChiLan1.0ChiLan1.0
ZNF142
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,268,930 - 121,290,330 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,279,111 - 121,305,296 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B105,894,127 - 105,917,608 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B224,489,913 - 224,512,205 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B224,492,064 - 224,509,839 (-)Ensemblpanpan1.1panPan2
ZNF142
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,244,783 - 25,262,585 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,245,643 - 25,260,296 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,064,682 - 26,082,605 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,260,775 - 25,278,698 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13725,165,576 - 25,183,232 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,099,829 - 25,117,752 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,120,449 - 25,138,366 (-)NCBIUU_Cfam_GSD_1.0
Znf142
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303174,742,261 - 174,761,723 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365691,084,981 - 1,103,932 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF142
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.115120,688,836 - 120,707,743 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215133,670,003 - 133,679,453 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF142
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110104,541,268 - 104,563,625 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10104,541,698 - 104,560,696 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,840,499 - 94,863,117 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Znf142
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248236,397,211 - 6,417,671 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZNF142
184 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_001105537.2(ZNF142):c.4419C>T (p.Ile1473=) single nucleotide variant Malignant melanoma [RCV000060495] Chr2:218642097 [GRCh38]
Chr2:219506820 [GRCh37]
Chr2:219215064 [NCBI36]
Chr2:2q35		 not provided
NM_001379659.1(ZNF142):c.25C>T (p.Gln9Ter) single nucleotide variant Inborn genetic diseases [RCV003284209]|Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV001331634] Chr2:218656405 [GRCh38]
Chr2:219521128 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1375C>T (p.Arg459Cys) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV001331639] Chr2:218649133 [GRCh38]
Chr2:219513856 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4059C>G (p.His1353Gln) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV001331635] Chr2:218643057 [GRCh38]
Chr2:219507780 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
NM_001379659.1(ZNF142):c.4334T>A (p.Leu1445Ter) single nucleotide variant not provided [RCV003312519] Chr2:218642782 [GRCh38]
Chr2:219507505 [GRCh37]
Chr2:2q35		 pathogenic
NM_001379659.1(ZNF142):c.3105C>T (p.Ala1035=) single nucleotide variant ZNF142-related condition [RCV003936741]|not provided [RCV003312521] Chr2:218644011 [GRCh38]
Chr2:219508734 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_001379659.1(ZNF142):c.4046C>T (p.Ala1349Val) single nucleotide variant Inborn genetic diseases [RCV003310897] Chr2:218643070 [GRCh38]
Chr2:219507793 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001379659.1(ZNF142):c.1123C>T (p.Arg375Trp) single nucleotide variant Inborn genetic diseases [RCV003291696] Chr2:218649385 [GRCh38]
Chr2:219514108 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5288G>A (p.Arg1763Gln) single nucleotide variant Inborn genetic diseases [RCV003240568] Chr2:218638715 [GRCh38]
Chr2:219503438 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3346C>G (p.Gln1116Glu) single nucleotide variant not provided [RCV003312520] Chr2:218643770 [GRCh38]
Chr2:219508493 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001379659.1(ZNF142):c.3467T>A (p.Leu1156His) single nucleotide variant ZNF142-related condition [RCV003976064]|not provided [RCV001709375] Chr2:218643649 [GRCh38]
Chr2:219508372 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.4537G>A (p.Ala1513Thr) single nucleotide variant ZNF142-related condition [RCV003968479]|not provided [RCV001690848] Chr2:218642579 [GRCh38]
Chr2:219507302 [GRCh37]
Chr2:2q35		 benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_001379659.1(ZNF142):c.4602del (p.Leu1535fs) deletion Seizure [RCV000984807] Chr2:218642514 [GRCh38]
Chr2:219507237 [GRCh37]
Chr2:2q35		 pathogenic
NM_001379659.1(ZNF142):c.336C>T (p.Phe112=) single nucleotide variant ZNF142-related condition [RCV003906692]|not provided [RCV003312522] Chr2:218652245 [GRCh38]
Chr2:219516968 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2q35(chr2:218271898-219825640) copy number gain not provided [RCV000767784] Chr2:218271898..219825640 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs) deletion Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV000770919] Chr2:218649090..218649091 [GRCh38]
Chr2:219513813..219513814 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_001379659.1(ZNF142):c.5098C>T (p.Arg1700Trp) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV000770920] Chr2:218640760 [GRCh38]
Chr2:219505483 [GRCh37]
Chr2:2q35		 pathogenic|conflicting interpretations of pathogenicity
NM_001379659.1(ZNF142):c.4298G>T (p.Cys1433Phe) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV000770923] Chr2:218642818 [GRCh38]
Chr2:219507541 [GRCh37]
Chr2:2q35		 pathogenic|conflicting interpretations of pathogenicity
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs) deletion Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV000770918] Chr2:218646330 [GRCh38]
Chr2:219511053 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV000770921] Chr2:218643341 [GRCh38]
Chr2:219508064 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_001379659.1(ZNF142):c.4217A>G (p.Asp1406Gly) single nucleotide variant Inborn genetic diseases [RCV003243996] Chr2:218642899 [GRCh38]
Chr2:219507622 [GRCh37]
Chr2:2q35		 uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_001379659.1(ZNF142):c.3860G>A (p.Ser1287Asn) single nucleotide variant Inborn genetic diseases [RCV003292869] Chr2:218643256 [GRCh38]
Chr2:219507979 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.3662T>G (p.Phe1221Cys) single nucleotide variant Inborn genetic diseases [RCV003273057] Chr2:218643454 [GRCh38]
Chr2:219508177 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5254C>T (p.Arg1752Cys) single nucleotide variant Inborn genetic diseases [RCV002549915]|Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV000995680] Chr2:218638749 [GRCh38]
Chr2:219503472 [GRCh37]
Chr2:2q35		 likely pathogenic|uncertain significance
NM_032726.4(PLCD4):c.2156C>T (p.Thr719Ile) single nucleotide variant Inborn genetic diseases [RCV003272799] Chr2:218636366 [GRCh38]
Chr2:219501089 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.95C>G (p.Ser32Cys) single nucleotide variant not specified [RCV003230950] Chr2:218656335 [GRCh38]
Chr2:219521058 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5399G>A (p.Arg1800His) single nucleotide variant Inborn genetic diseases [RCV003251081] Chr2:218638604 [GRCh38]
Chr2:219503327 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5089-162del deletion not provided [RCV001650748] Chr2:218640931 [GRCh38]
Chr2:219505654 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.1873+148A>G single nucleotide variant not provided [RCV001620171] Chr2:218648487 [GRCh38]
Chr2:219513210 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.5613G>A (p.Glu1871=) single nucleotide variant ZNF142-related condition [RCV003921315]|not provided [RCV001659161] Chr2:218638390 [GRCh38]
Chr2:219503113 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.3576C>A (p.Pro1192=) single nucleotide variant ZNF142-related condition [RCV003913329]|not provided [RCV001715365] Chr2:218643540 [GRCh38]
Chr2:219508263 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.1449A>G (p.Pro483=) single nucleotide variant ZNF142-related condition [RCV003976013]|not provided [RCV001693743] Chr2:218649059 [GRCh38]
Chr2:219513782 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.1048+139A>G single nucleotide variant not provided [RCV001595945] Chr2:218650220 [GRCh38]
Chr2:219514943 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.2221G>T (p.Ala741Ser) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV002243396]|ZNF142-related condition [RCV003984049]|not provided [RCV001668100] Chr2:218644895 [GRCh38]
Chr2:219509618 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.3628T>C (p.Ser1210Pro) single nucleotide variant ZNF142-related condition [RCV003956301]|not provided [RCV001645253] Chr2:218643488 [GRCh38]
Chr2:219508211 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.258A>G (p.Pro86=) single nucleotide variant ZNF142-related condition [RCV003910970]|not provided [RCV001709050] Chr2:218656172 [GRCh38]
Chr2:219520895 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.5089-180dup duplication not provided [RCV001682460] Chr2:218640930..218640931 [GRCh38]
Chr2:219505653..219505654 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.-576C>T single nucleotide variant not provided [RCV001669818] Chr2:218659583 [GRCh38]
Chr2:219524306 [GRCh37]
Chr2:2q35		 benign
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
NM_001379659.1(ZNF142):c.3235C>T (p.Arg1079Cys) single nucleotide variant not provided [RCV001092427] Chr2:218643881 [GRCh38]
Chr2:219508604 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
NM_001379659.1(ZNF142):c.1852C>T (p.Arg618Ter) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV002051930]|not provided [RCV001268155] Chr2:218648656 [GRCh38]
Chr2:219513379 [GRCh37]
Chr2:2q35		 pathogenic
NM_001379659.1(ZNF142):c.4717C>T (p.Arg1573Trp) single nucleotide variant Inborn genetic diseases [RCV002546496]|Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV001331637] Chr2:218642399 [GRCh38]
Chr2:219507122 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4880C>T (p.Pro1627Leu) single nucleotide variant Global developmental delay [RCV001263347]|Inborn genetic diseases [RCV002537653] Chr2:218642236 [GRCh38]
Chr2:219506959 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4331G>A (p.Arg1444His) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV001331636] Chr2:218642785 [GRCh38]
Chr2:219507508 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3139C>T (p.Arg1047Trp) single nucleotide variant Inborn genetic diseases [RCV002546495]|Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV001331633]|not provided [RCV002466664] Chr2:218643977 [GRCh38]
Chr2:219508700 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1321A>G (p.Met441Val) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV001331638] Chr2:218649187 [GRCh38]
Chr2:219513910 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3140G>A (p.Arg1047Gln) single nucleotide variant not provided [RCV001355651] Chr2:218643976 [GRCh38]
Chr2:219508699 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1284G>A (p.Ala428=) single nucleotide variant ZNF142-related condition [RCV003921192]|not provided [RCV001531953] Chr2:218649224 [GRCh38]
Chr2:219513947 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_001379659.1(ZNF142):c.3552C>T (p.Val1184=) single nucleotide variant ZNF142-related condition [RCV003921331]|not provided [RCV001684797] Chr2:218643564 [GRCh38]
Chr2:219508287 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.2851A>G (p.Ser951Gly) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV002243397]|ZNF142-related condition [RCV003975905]|not provided [RCV001675297] Chr2:218644265 [GRCh38]
Chr2:219508988 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.1873+76C>T single nucleotide variant not provided [RCV001715260] Chr2:218648559 [GRCh38]
Chr2:219513282 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.2051+126T>C single nucleotide variant not provided [RCV001678627] Chr2:218646045 [GRCh38]
Chr2:219510768 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.1873+238G>A single nucleotide variant not provided [RCV001609861] Chr2:218648397 [GRCh38]
Chr2:219513120 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.1718G>A (p.Arg573His) single nucleotide variant not specified [RCV002238592] Chr2:218648790 [GRCh38]
Chr2:219513513 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4691C>G (p.Pro1564Arg) single nucleotide variant Inborn genetic diseases [RCV003101307]|not specified [RCV002238593] Chr2:218642425 [GRCh38]
Chr2:219507148 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3185G>T (p.Arg1062Leu) single nucleotide variant not provided [RCV003238634] Chr2:218643931 [GRCh38]
Chr2:219508654 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3067C>T (p.Arg1023Trp) single nucleotide variant not provided [RCV003238635] Chr2:218644049 [GRCh38]
Chr2:219508772 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1848C>T (p.Leu616=) single nucleotide variant not provided [RCV001815905] Chr2:218648660 [GRCh38]
Chr2:219513383 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.2554T>G (p.Leu852Val) single nucleotide variant Inborn genetic diseases [RCV003289099]|not provided [RCV001816290] Chr2:218644562 [GRCh38]
Chr2:219509285 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.3640G>A (p.Glu1214Lys) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV001837400] Chr2:218643476 [GRCh38]
Chr2:219508199 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3787dup (p.Gln1263fs) duplication Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV001839399] Chr2:218643328..218643329 [GRCh38]
Chr2:219508051..219508052 [GRCh37]
Chr2:2q35		 likely pathogenic
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5116C>T (p.Arg1706Trp) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV002496147]|ZNF142-related condition [RCV003926327]|not provided [RCV002214208] Chr2:218640742 [GRCh38]
Chr2:219505465 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.945G>A (p.Gln315=) single nucleotide variant ZNF142-related condition [RCV003916387]|not provided [RCV002214209] Chr2:218650462 [GRCh38]
Chr2:219515185 [GRCh37]
Chr2:2q35		 likely benign
NM_001366290.3(ZNF142):c.598T>C (p.Cys200Arg) single nucleotide variant not provided [RCV002221874]   uncertain significance
NM_001105537.4(ZNF142):c.3406C>G (p.His1136Asp) single nucleotide variant not provided [RCV002221881]   uncertain significance
NM_001379659.1(ZNF142):c.1765_1766del (p.Asp589fs) deletion Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV002226965] Chr2:218648742..218648743 [GRCh38]
Chr2:219513465..219513466 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_001379659.1(ZNF142):c.1763A>C (p.Gln588Pro) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003148530] Chr2:218648745 [GRCh38]
Chr2:219513468 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4487G>C (p.Ser1496Thr) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003148218] Chr2:218642629 [GRCh38]
Chr2:219507352 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1762C>T (p.Gln588Ter) single nucleotide variant not provided [RCV003149321] Chr2:218648746 [GRCh38]
Chr2:219513469 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5467del (p.Cys1823fs) deletion not provided [RCV003149516] Chr2:218638536 [GRCh38]
Chr2:219503259 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2510del (p.Pro837fs) deletion Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV002226943] Chr2:218644606 [GRCh38]
Chr2:219509329 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_001379659.1(ZNF142):c.5194+1G>C single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003236622] Chr2:218640663 [GRCh38]
Chr2:219505386 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_001379659.1(ZNF142):c.1556G>A (p.Arg519His) single nucleotide variant ZNF142-related condition [RCV003903652]|not provided [RCV002263254] Chr2:218648952 [GRCh38]
Chr2:219513675 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_001379659.1(ZNF142):c.3064G>A (p.Gly1022Arg) single nucleotide variant not provided [RCV002287000] Chr2:218644052 [GRCh38]
Chr2:219508775 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.140G>C (p.Arg47Pro) single nucleotide variant not provided [RCV002287006] Chr2:218656290 [GRCh38]
Chr2:219521013 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.982_983del (p.Lys328fs) deletion Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV002271333] Chr2:218650424..218650425 [GRCh38]
Chr2:219515147..219515148 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_001379659.1(ZNF142):c.4114C>T (p.Gln1372Ter) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV002283968] Chr2:218643002 [GRCh38]
Chr2:219507725 [GRCh37]
Chr2:2q35		 pathogenic
NM_001379659.1(ZNF142):c.86dup (p.Pro30fs) duplication not provided [RCV002293923] Chr2:218656343..218656344 [GRCh38]
Chr2:219521066..219521067 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3755dup (p.Arg1253fs) duplication Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV002283644] Chr2:218643360..218643361 [GRCh38]
Chr2:219508083..219508084 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_001379659.1(ZNF142):c.1949C>T (p.Thr650Ile) single nucleotide variant Inborn genetic diseases [RCV003261126] Chr2:218646273 [GRCh38]
Chr2:219510996 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4522C>T (p.Arg1508Ter) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV002471845] Chr2:218642594 [GRCh38]
Chr2:219507317 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_001379659.1(ZNF142):c.1124G>A (p.Arg375Gln) single nucleotide variant not provided [RCV002467243] Chr2:218649384 [GRCh38]
Chr2:219514107 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1039C>T (p.Arg347Trp) single nucleotide variant not provided [RCV002300734] Chr2:218650368 [GRCh38]
Chr2:219515091 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4471T>C (p.Cys1491Arg) single nucleotide variant not provided [RCV002300753] Chr2:218642645 [GRCh38]
Chr2:219507368 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3721A>C (p.Ile1241Leu) single nucleotide variant not provided [RCV002300763] Chr2:218643395 [GRCh38]
Chr2:219508118 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1606CAC[1] (p.His537del) microsatellite not provided [RCV002300999] Chr2:218648897..218648899 [GRCh38]
Chr2:219513620..219513622 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4094G>A (p.Arg1365His) single nucleotide variant Inborn genetic diseases [RCV002686931] Chr2:218643022 [GRCh38]
Chr2:219507745 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1988G>A (p.Arg663His) single nucleotide variant Inborn genetic diseases [RCV002882637] Chr2:218635887 [GRCh38]
Chr2:219500610 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5447C>T (p.Thr1816Ile) single nucleotide variant Inborn genetic diseases [RCV002883246] Chr2:218638556 [GRCh38]
Chr2:219503279 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1561T>C (p.Ser521Pro) single nucleotide variant Inborn genetic diseases [RCV002993139] Chr2:218633716 [GRCh38]
Chr2:219498439 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4949G>A (p.Arg1650His) single nucleotide variant Inborn genetic diseases [RCV002793337] Chr2:218642167 [GRCh38]
Chr2:219506890 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4453G>C (p.Ala1485Pro) single nucleotide variant Inborn genetic diseases [RCV002879835] Chr2:218642663 [GRCh38]
Chr2:219507386 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4900C>T (p.Arg1634Cys) single nucleotide variant Inborn genetic diseases [RCV002972906] Chr2:218642216 [GRCh38]
Chr2:219506939 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3614C>T (p.Pro1205Leu) single nucleotide variant Inborn genetic diseases [RCV002860685] Chr2:218643502 [GRCh38]
Chr2:219508225 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4775G>A (p.Arg1592Gln) single nucleotide variant Inborn genetic diseases [RCV002817977] Chr2:218642341 [GRCh38]
Chr2:219507064 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2526C>T (p.His842=) single nucleotide variant not provided [RCV002512019] Chr2:218644590 [GRCh38]
Chr2:219509313 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.5218G>A (p.Glu1740Lys) single nucleotide variant Inborn genetic diseases [RCV002989985] Chr2:218638785 [GRCh38]
Chr2:219503508 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1558C>T (p.His520Tyr) single nucleotide variant Inborn genetic diseases [RCV002974167] Chr2:218648950 [GRCh38]
Chr2:219513673 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2378G>A (p.Arg793His) single nucleotide variant Inborn genetic diseases [RCV002749529] Chr2:218644738 [GRCh38]
Chr2:219509461 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3904del (p.Ala1302fs) deletion Inborn genetic diseases [RCV002708335] Chr2:218643212 [GRCh38]
Chr2:219507935 [GRCh37]
Chr2:2q35		 pathogenic
NM_001379659.1(ZNF142):c.3208G>A (p.Glu1070Lys) single nucleotide variant Inborn genetic diseases [RCV002979985] Chr2:218643908 [GRCh38]
Chr2:219508631 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1942A>C (p.Met648Leu) single nucleotide variant Inborn genetic diseases [RCV002911893] Chr2:218646280 [GRCh38]
Chr2:219511003 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4631G>A (p.Arg1544Gln) single nucleotide variant Inborn genetic diseases [RCV002660355]|Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003147833] Chr2:218642485 [GRCh38]
Chr2:219507208 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4571C>T (p.Thr1524Ile) single nucleotide variant Inborn genetic diseases [RCV002911106] Chr2:218642545 [GRCh38]
Chr2:219507268 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4879C>T (p.Pro1627Ser) single nucleotide variant Inborn genetic diseases [RCV002870398] Chr2:218642237 [GRCh38]
Chr2:219506960 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1645C>T (p.Arg549Cys) single nucleotide variant Inborn genetic diseases [RCV002925579] Chr2:218634143 [GRCh38]
Chr2:219498866 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3136C>T (p.Arg1046Cys) single nucleotide variant Inborn genetic diseases [RCV002997889] Chr2:218643980 [GRCh38]
Chr2:219508703 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3586C>T (p.Pro1196Ser) single nucleotide variant Inborn genetic diseases [RCV002821183] Chr2:218643530 [GRCh38]
Chr2:219508253 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3809C>T (p.Pro1270Leu) single nucleotide variant Inborn genetic diseases [RCV003001782] Chr2:218643307 [GRCh38]
Chr2:219508030 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2116C>T (p.Arg706Trp) single nucleotide variant Inborn genetic diseases [RCV002845043] Chr2:218645000 [GRCh38]
Chr2:219509723 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4066C>T (p.Arg1356Trp) single nucleotide variant Inborn genetic diseases [RCV002956447] Chr2:218643050 [GRCh38]
Chr2:219507773 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.2189G>A (p.Arg730His) single nucleotide variant Inborn genetic diseases [RCV002641728] Chr2:218636477 [GRCh38]
Chr2:219501200 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5518G>A (p.Val1840Ile) single nucleotide variant Inborn genetic diseases [RCV002826693] Chr2:218638485 [GRCh38]
Chr2:219503208 [GRCh37]
Chr2:2q35		 likely benign
NM_032726.4(PLCD4):c.1792G>A (p.Gly598Ser) single nucleotide variant Inborn genetic diseases [RCV002697118] Chr2:218634526 [GRCh38]
Chr2:219499249 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.212G>A (p.Gly71Glu) single nucleotide variant Inborn genetic diseases [RCV002698199] Chr2:218656218 [GRCh38]
Chr2:219520941 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4151G>A (p.Arg1384His) single nucleotide variant Inborn genetic diseases [RCV002986929] Chr2:218642965 [GRCh38]
Chr2:219507688 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4943G>C (p.Gly1648Ala) single nucleotide variant Inborn genetic diseases [RCV002743142] Chr2:218642173 [GRCh38]
Chr2:219506896 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1438G>A (p.Ala480Thr) single nucleotide variant Inborn genetic diseases [RCV002699870] Chr2:218649070 [GRCh38]
Chr2:219513793 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.926G>C (p.Gly309Ala) single nucleotide variant Inborn genetic diseases [RCV002915560] Chr2:218650481 [GRCh38]
Chr2:219515204 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4792C>T (p.His1598Tyr) single nucleotide variant Inborn genetic diseases [RCV002742422] Chr2:218642324 [GRCh38]
Chr2:219507047 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2017C>T (p.Arg673Cys) single nucleotide variant Inborn genetic diseases [RCV003003745] Chr2:218646205 [GRCh38]
Chr2:219510928 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4387G>A (p.Asp1463Asn) single nucleotide variant Inborn genetic diseases [RCV002742309] Chr2:218642729 [GRCh38]
Chr2:219507452 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2840C>T (p.Thr947Ile) single nucleotide variant Inborn genetic diseases [RCV002665547] Chr2:218644276 [GRCh38]
Chr2:219508999 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.208C>T (p.Pro70Ser) single nucleotide variant Inborn genetic diseases [RCV002763458] Chr2:218656222 [GRCh38]
Chr2:219520945 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1447C>T (p.Pro483Ser) single nucleotide variant Inborn genetic diseases [RCV002915684] Chr2:218649061 [GRCh38]
Chr2:219513784 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.2029A>G (p.Asn677Asp) single nucleotide variant Inborn genetic diseases [RCV002955079] Chr2:218635928 [GRCh38]
Chr2:219500651 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4622C>T (p.Ala1541Val) single nucleotide variant Inborn genetic diseases [RCV002939801] Chr2:218642494 [GRCh38]
Chr2:219507217 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1722G>A (p.Met574Ile) single nucleotide variant Inborn genetic diseases [RCV002652247] Chr2:218634220 [GRCh38]
Chr2:219498943 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1310A>G (p.His437Arg) single nucleotide variant Inborn genetic diseases [RCV002812943] Chr2:218649198 [GRCh38]
Chr2:219513921 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1040G>A (p.Arg347Gln) single nucleotide variant Inborn genetic diseases [RCV002812840] Chr2:218650367 [GRCh38]
Chr2:219515090 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.3750G>C (p.Arg1250Ser) single nucleotide variant Inborn genetic diseases [RCV002921728] Chr2:218643366 [GRCh38]
Chr2:219508089 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5368G>A (p.Ala1790Thr) single nucleotide variant Inborn genetic diseases [RCV002960516] Chr2:218638635 [GRCh38]
Chr2:219503358 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1921G>A (p.Val641Met) single nucleotide variant Inborn genetic diseases [RCV002940210] Chr2:218646301 [GRCh38]
Chr2:219511024 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3757C>T (p.Arg1253Cys) single nucleotide variant Inborn genetic diseases [RCV002961375]|not specified [RCV003230773] Chr2:218643359 [GRCh38]
Chr2:219508082 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.2119G>A (p.Asp707Asn) single nucleotide variant Inborn genetic diseases [RCV002936598] Chr2:218636329 [GRCh38]
Chr2:219501052 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.2450C>T (p.Ala817Val) single nucleotide variant Inborn genetic diseases [RCV002940846] Chr2:218644666 [GRCh38]
Chr2:219509389 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1925T>C (p.Val642Ala) single nucleotide variant Inborn genetic diseases [RCV002648453] Chr2:218635824 [GRCh38]
Chr2:219500547 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3995C>G (p.Ser1332Cys) single nucleotide variant Inborn genetic diseases [RCV002921440] Chr2:218643121 [GRCh38]
Chr2:219507844 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1717C>T (p.Arg573Cys) single nucleotide variant Inborn genetic diseases [RCV002988025] Chr2:218648791 [GRCh38]
Chr2:219513514 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1853G>A (p.Arg618Gln) single nucleotide variant Inborn genetic diseases [RCV002723225] Chr2:218648655 [GRCh38]
Chr2:219513378 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4598G>T (p.Cys1533Phe) single nucleotide variant Inborn genetic diseases [RCV002655498] Chr2:218642518 [GRCh38]
Chr2:219507241 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.1646G>A (p.Arg549His) single nucleotide variant Inborn genetic diseases [RCV002679796] Chr2:218634144 [GRCh38]
Chr2:219498867 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.118G>C (p.Val40Leu) single nucleotide variant Inborn genetic diseases [RCV002944686] Chr2:218656312 [GRCh38]
Chr2:219521035 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.220G>A (p.Glu74Lys) single nucleotide variant Inborn genetic diseases [RCV002657253] Chr2:218656210 [GRCh38]
Chr2:219520933 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3311C>G (p.Ser1104Ter) single nucleotide variant Inborn genetic diseases [RCV002723019] Chr2:218643805 [GRCh38]
Chr2:219508528 [GRCh37]
Chr2:2q35		 pathogenic
NM_001379659.1(ZNF142):c.4379C>T (p.Pro1460Leu) single nucleotide variant Inborn genetic diseases [RCV002725108] Chr2:218642737 [GRCh38]
Chr2:219507460 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4594C>T (p.Arg1532Cys) single nucleotide variant Inborn genetic diseases [RCV002655927] Chr2:218642522 [GRCh38]
Chr2:219507245 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4091C>A (p.Ala1364Asp) single nucleotide variant Inborn genetic diseases [RCV003254340] Chr2:218643025 [GRCh38]
Chr2:219507748 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2066A>G (p.Gln689Arg) single nucleotide variant Inborn genetic diseases [RCV003177871] Chr2:218645050 [GRCh38]
Chr2:219509773 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1501A>G (p.Lys501Glu) single nucleotide variant Inborn genetic diseases [RCV003211267] Chr2:218649007 [GRCh38]
Chr2:219513730 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1915C>T (p.Arg639Ter) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003334408]|not provided [RCV003221689] Chr2:218646307 [GRCh38]
Chr2:219511030 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_001379659.1(ZNF142):c.5306A>G (p.Gln1769Arg) single nucleotide variant Inborn genetic diseases [RCV003184080] Chr2:218638697 [GRCh38]
Chr2:219503420 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3668A>G (p.Gln1223Arg) single nucleotide variant Inborn genetic diseases [RCV003206490] Chr2:218643448 [GRCh38]
Chr2:219508171 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4904A>G (p.His1635Arg) single nucleotide variant Inborn genetic diseases [RCV003212464] Chr2:218642212 [GRCh38]
Chr2:219506935 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5638G>A (p.Ala1880Thr) single nucleotide variant Inborn genetic diseases [RCV003212465] Chr2:218638365 [GRCh38]
Chr2:219503088 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.2963C>A (p.Pro988His) single nucleotide variant Inborn genetic diseases [RCV003196117] Chr2:218644153 [GRCh38]
Chr2:219508876 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1794A>C (p.Glu598Asp) single nucleotide variant Inborn genetic diseases [RCV003198645] Chr2:218648714 [GRCh38]
Chr2:219513437 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.170G>C (p.Gly57Ala) single nucleotide variant Inborn genetic diseases [RCV003218123] Chr2:218656260 [GRCh38]
Chr2:219520983 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2471C>T (p.Pro824Leu) single nucleotide variant Inborn genetic diseases [RCV003195036] Chr2:218644645 [GRCh38]
Chr2:219509368 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.43G>A (p.Gly15Arg) single nucleotide variant ZNF142-related condition [RCV003928970]|not provided [RCV003223072] Chr2:218656387 [GRCh38]
Chr2:219521110 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_001379659.1(ZNF142):c.2064C>G (p.Asn688Lys) single nucleotide variant Inborn genetic diseases [RCV003259340] Chr2:218645052 [GRCh38]
Chr2:219509775 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5036del (p.Pro1679fs) deletion Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003139418] Chr2:218642080 [GRCh38]
Chr2:219506803 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4157T>C (p.Met1386Thr) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003139419] Chr2:218642959 [GRCh38]
Chr2:219507682 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.88C>A (p.Pro30Thr) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003139420] Chr2:218656342 [GRCh38]
Chr2:219521065 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5291C>G (p.Ala1764Gly) single nucleotide variant Inborn genetic diseases [RCV003198486] Chr2:218638712 [GRCh38]
Chr2:219503435 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4828G>A (p.Val1610Met) single nucleotide variant Inborn genetic diseases [RCV003210000] Chr2:218642288 [GRCh38]
Chr2:219507011 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.227T>C (p.Ile76Thr) single nucleotide variant Inborn genetic diseases [RCV003217351] Chr2:218656203 [GRCh38]
Chr2:219520926 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2341C>T (p.Arg781Cys) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003324658] Chr2:218644775 [GRCh38]
Chr2:219509498 [GRCh37]
Chr2:2q35		 pathogenic
NM_001379659.1(ZNF142):c.3758G>A (p.Arg1253His) single nucleotide variant Inborn genetic diseases [RCV003265585] Chr2:218643358 [GRCh38]
Chr2:219508081 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4901G>A (p.Arg1634His) single nucleotide variant not provided [RCV003325700] Chr2:218642215 [GRCh38]
Chr2:219506938 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_001379659.1(ZNF142):c.4235G>A (p.Arg1412Gln) single nucleotide variant not provided [RCV003325655] Chr2:218642881 [GRCh38]
Chr2:219507604 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2551A>G (p.Ser851Gly) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003340749] Chr2:218644565 [GRCh38]
Chr2:219509288 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1433C>T (p.Ala478Val) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003340750] Chr2:218649075 [GRCh38]
Chr2:219513798 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1555C>T (p.Arg519Cys) single nucleotide variant Inborn genetic diseases [RCV003359217] Chr2:218648953 [GRCh38]
Chr2:219513676 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5408G>T (p.Arg1803Leu) single nucleotide variant Inborn genetic diseases [RCV003381509] Chr2:218638595 [GRCh38]
Chr2:219503318 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1498C>T (p.Arg500Cys) single nucleotide variant Inborn genetic diseases [RCV003366878] Chr2:218649010 [GRCh38]
Chr2:219513733 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1484A>G (p.Tyr495Cys) single nucleotide variant Inborn genetic diseases [RCV003362039] Chr2:218649024 [GRCh38]
Chr2:219513747 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.2132G>A (p.Arg711Gln) single nucleotide variant Inborn genetic diseases [RCV003370265] Chr2:218636342 [GRCh38]
Chr2:219501065 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4354G>A (p.Asp1452Asn) single nucleotide variant Inborn genetic diseases [RCV003363925] Chr2:218642762 [GRCh38]
Chr2:219507485 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3755del (p.Gly1252fs) deletion Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003333472] Chr2:218643361 [GRCh38]
Chr2:219508084 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_001379659.1(ZNF142):c.3188G>A (p.Arg1063Gln) single nucleotide variant Inborn genetic diseases [RCV003385207] Chr2:218643928 [GRCh38]
Chr2:219508651 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.2158G>C (p.Ala720Pro) single nucleotide variant Inborn genetic diseases [RCV003354190] Chr2:218644958 [GRCh38]
Chr2:219509681 [GRCh37]
Chr2:2q35		 uncertain significance
NM_032726.4(PLCD4):c.2174T>C (p.Met725Thr) single nucleotide variant Inborn genetic diseases [RCV003375887] Chr2:218636384 [GRCh38]
Chr2:219501107 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.5594T>C (p.Leu1865Pro) single nucleotide variant Inborn genetic diseases [RCV003355005] Chr2:218638409 [GRCh38]
Chr2:219503132 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.4962C>T (p.Cys1654=) single nucleotide variant not provided [RCV003429538] Chr2:218642154 [GRCh38]
Chr2:219506877 [GRCh37]
Chr2:2q35		 likely benign
NM_032726.4(PLCD4):c.2007G>A (p.Gln669=) single nucleotide variant not provided [RCV003440162] Chr2:218635906 [GRCh38]
Chr2:219500629 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.3638C>T (p.Thr1213Ile) single nucleotide variant not provided [RCV003440164] Chr2:218643478 [GRCh38]
Chr2:219508201 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_001379659.1(ZNF142):c.5398C>T (p.Arg1800Cys) single nucleotide variant not provided [RCV003429537] Chr2:218638605 [GRCh38]
Chr2:219503328 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.3579G>A (p.Thr1193=) single nucleotide variant not provided [RCV003429539] Chr2:218643537 [GRCh38]
Chr2:219508260 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.210A>G (p.Pro70=) single nucleotide variant not provided [RCV003429542] Chr2:218656220 [GRCh38]
Chr2:219520943 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.3762C>T (p.Gly1254=) single nucleotide variant not provided [RCV003440163] Chr2:218643354 [GRCh38]
Chr2:219508077 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.4004T>G (p.Leu1335Arg) single nucleotide variant not provided [RCV003443439] Chr2:218643112 [GRCh38]
Chr2:219507835 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.3573A>T (p.Ser1191=) single nucleotide variant not provided [RCV003429540] Chr2:218643543 [GRCh38]
Chr2:219508266 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.5448C>T (p.Thr1816=) single nucleotide variant not provided [RCV003429536] Chr2:218638555 [GRCh38]
Chr2:219503278 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.2261G>A (p.Arg754His) single nucleotide variant not provided [RCV003440165] Chr2:218644855 [GRCh38]
Chr2:219509578 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1590C>T (p.Ala530=) single nucleotide variant not provided [RCV003440166] Chr2:218648918 [GRCh38]
Chr2:219513641 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.13C>T (p.Leu5Phe) single nucleotide variant not provided [RCV003443914] Chr2:218656417 [GRCh38]
Chr2:219521140 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001379659.1(ZNF142):c.1874-4_1874-3del microsatellite not provided [RCV003429541] Chr2:218646351..218646352 [GRCh38]
Chr2:219511074..219511075 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.510A>G (p.Arg170=) single nucleotide variant ZNF142-related condition [RCV003908927]|not provided [RCV003440167] Chr2:218652071 [GRCh38]
Chr2:219516794 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.916C>T (p.Gln306Ter) single nucleotide variant Neurodevelopmental disorder with impaired speech and hyperkinetic movements [RCV003493250] Chr2:218650491 [GRCh38]
Chr2:219515214 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_001379659.1(ZNF142):c.2220G>A (p.Pro740=) single nucleotide variant not provided [RCV003886081] Chr2:218644896 [GRCh38]
Chr2:219509619 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.4673C>T (p.Ala1558Val) single nucleotide variant ZNF142-related condition [RCV003924496] Chr2:218642443 [GRCh38]
Chr2:219507166 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.4191G>A (p.Val1397=) single nucleotide variant not provided [RCV003887013] Chr2:218642925 [GRCh38]
Chr2:219507648 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.4673C>A (p.Ala1558Asp) single nucleotide variant ZNF142-related condition [RCV003913825] Chr2:218642443 [GRCh38]
Chr2:219507166 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.1027C>A (p.Gln343Lys) single nucleotide variant ZNF142-related condition [RCV003956779] Chr2:218650380 [GRCh38]
Chr2:219515103 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.1021A>C (p.Lys341Gln) single nucleotide variant ZNF142-related condition [RCV003979310] Chr2:218650386 [GRCh38]
Chr2:219515109 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.420T>C (p.Ser140=) single nucleotide variant ZNF142-related condition [RCV003974704] Chr2:218652161 [GRCh38]
Chr2:219516884 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.4308G>A (p.Thr1436=) single nucleotide variant ZNF142-related condition [RCV003911834] Chr2:218642808 [GRCh38]
Chr2:219507531 [GRCh37]
Chr2:2q35		 benign
NM_001379659.1(ZNF142):c.504G>T (p.Val168=) single nucleotide variant not provided [RCV003884160] Chr2:218652077 [GRCh38]
Chr2:219516800 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.1833C>T (p.Ala611=) single nucleotide variant ZNF142-related condition [RCV003934320] Chr2:218648675 [GRCh38]
Chr2:219513398 [GRCh37]
Chr2:2q35		 likely benign
NM_001379659.1(ZNF142):c.4173G>A (p.Arg1391=) single nucleotide variant ZNF142-related condition [RCV003976592] Chr2:218642943 [GRCh38]
Chr2:219507666 [GRCh37]
Chr2:2q35		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6992
Count of miRNA genes:1180
Interacting mature miRNAs:1483
Transcripts:ENST00000411696, ENST00000432460, ENST00000433921, ENST00000440934, ENST00000449707, ENST00000450560, ENST00000450765
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D2S1297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,502,758 - 219,502,958UniSTSGRCh37
Build 362219,211,002 - 219,211,202RGDNCBI36
Celera2213,270,516 - 213,270,716RGD
Cytogenetic Map2q35UniSTS
HuRef2211,356,215 - 211,356,415UniSTS
Stanford-G3 RH Map28590.0UniSTS
NCBI RH Map21734.7UniSTS
G17323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,520,133 - 219,520,241UniSTSGRCh37
Build 362219,228,377 - 219,228,485RGDNCBI36
Celera2213,287,892 - 213,288,000RGD
Cytogenetic Map2q35UniSTS
HuRef2211,373,623 - 211,373,731UniSTS
RH65508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,507,875 - 219,508,022UniSTSGRCh37
Build 362219,216,119 - 219,216,266RGDNCBI36
Celera2213,275,633 - 213,275,780RGD
Cytogenetic Map2q35UniSTS
HuRef2211,361,366 - 211,361,513UniSTS
GeneMap99-GB4 RH Map2682.0UniSTS
NCBI RH Map21717.1UniSTS
A007J36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,502,765 - 219,502,876UniSTSGRCh37
Build 362219,211,009 - 219,211,120RGDNCBI36
Celera2213,270,523 - 213,270,634RGD
Cytogenetic Map2q35UniSTS
HuRef2211,356,222 - 211,356,333UniSTS
GeneMap99-GB4 RH Map2681.0UniSTS
NCBI RH Map21723.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1463 1078 954 69 921 40 2552 860 1676 147 1029 1211 43 348 1732 1
Low 976 1900 771 555 1019 425 1805 1336 2057 272 430 402 132 1 856 1056 4 2
Below cutoff 12 1 11 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM719343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U09849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000411696   ⟹   ENSP00000398798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,633,329 - 218,659,623 (-)Ensembl
RefSeq Acc Id: ENST00000432460   ⟹   ENSP00000391599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,656,387 - 218,659,539 (-)Ensembl
RefSeq Acc Id: ENST00000433921   ⟹   ENSP00000405477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,638,145 - 218,659,502 (-)Ensembl
RefSeq Acc Id: ENST00000440934   ⟹   ENSP00000415156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,643,920 - 218,659,539 (-)Ensembl
RefSeq Acc Id: ENST00000449707   ⟹   ENSP00000408643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,637,916 - 218,659,524 (-)Ensembl
RefSeq Acc Id: ENST00000450560   ⟹   ENSP00000400424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,656,350 - 218,659,476 (-)Ensembl
RefSeq Acc Id: ENST00000450765   ⟹   ENSP00000397456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,638,145 - 218,659,655 (-)Ensembl
RefSeq Acc Id: NM_001105537   ⟹   NP_001099007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,636,192 - 218,659,623 (-)NCBI
GRCh372219,502,639 - 219,524,355 (-)NCBI
Build 362219,210,883 - 219,232,505 (-)NCBI Archive
Celera2213,270,397 - 213,292,019 (-)RGD
HuRef2211,356,096 - 211,377,844 (-)NCBI
CHM1_12219,509,613 - 219,531,238 (-)NCBI
T2T-CHM13v2.02219,122,735 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366287   ⟹   NP_001353216
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,636,192 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,122,735 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366288   ⟹   NP_001353217
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,636,192 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,122,735 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366289   ⟹   NP_001353218
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,636,192 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,122,735 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366290   ⟹   NP_001353219
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366291   ⟹   NP_001353220
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,636,192 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,122,735 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367339   ⟹   NP_001354268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,652,565 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,139,124 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367340   ⟹   NP_001354269
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,652,565 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,139,124 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367341   ⟹   NP_001354270
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,652,565 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,139,124 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367342   ⟹   NP_001354271
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,652,565 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,139,124 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379659   ⟹   NP_001366588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379660   ⟹   NP_001366589
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379661   ⟹   NP_001366590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379662   ⟹   NP_001366591
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511786   ⟹   XP_011510088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511788   ⟹   XP_011510090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445777   ⟹   XP_047301733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
RefSeq Acc Id: XM_047445778   ⟹   XP_047301734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
RefSeq Acc Id: XM_047445779   ⟹   XP_047301735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
RefSeq Acc Id: XM_047445780   ⟹   XP_047301736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
RefSeq Acc Id: XM_047445781   ⟹   XP_047301737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
RefSeq Acc Id: XM_047445782   ⟹   XP_047301738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,659,623 (-)NCBI
RefSeq Acc Id: XM_047445783   ⟹   XP_047301739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,656,229 (-)NCBI
RefSeq Acc Id: XM_047445784   ⟹   XP_047301740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,633,329 - 218,656,239 (-)NCBI
RefSeq Acc Id: XM_054343801   ⟹   XP_054199776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
RefSeq Acc Id: XM_054343802   ⟹   XP_054199777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
RefSeq Acc Id: XM_054343803   ⟹   XP_054199778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
RefSeq Acc Id: XM_054343804   ⟹   XP_054199779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
RefSeq Acc Id: XM_054343805   ⟹   XP_054199780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
RefSeq Acc Id: XM_054343806   ⟹   XP_054199781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
RefSeq Acc Id: XM_054343807   ⟹   XP_054199782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
RefSeq Acc Id: XM_054343808   ⟹   XP_054199783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,872 - 219,146,180 (-)NCBI
RefSeq Acc Id: XM_054343809   ⟹   XP_054199784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,872 - 219,142,787 (-)NCBI
RefSeq Acc Id: XM_054343810   ⟹   XP_054199785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,872 - 219,142,797 (-)NCBI
RefSeq Acc Id: XR_008486509
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,882 - 219,146,180 (-)NCBI
RefSeq Acc Id: XR_008486510
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,882 - 219,146,180 (-)NCBI
RefSeq Acc Id: XR_008486511
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,119,882 - 219,146,180 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001099007 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353216 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353217 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353218 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353219 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353220 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354268 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354269 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354270 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354271 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366588 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366589 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366590 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366591 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510088 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510090 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301733 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301734 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301735 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301736 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301737 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301738 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301739 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301740 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199776 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199777 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199778 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199779 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199780 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199781 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199782 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199783 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199784 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199785 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50265 (Get FASTA)   NCBI Sequence Viewer  
  BAA13242 (Get FASTA)   NCBI Sequence Viewer  
  EAW70630 (Get FASTA)   NCBI Sequence Viewer  
  EAW70631 (Get FASTA)   NCBI Sequence Viewer  
  EAW70632 (Get FASTA)   NCBI Sequence Viewer  
  EAW70633 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000397456.1
  ENSP00000398798
  ENSP00000398798.3
  ENSP00000400424.1
  ENSP00000405477.1
  ENSP00000408643
  ENSP00000408643.1
  ENSP00000415156.2
GenBank Protein P52746 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001099007   ⟸   NM_001105537
- Peptide Label: isoform 1
- UniProtKB: Q92510 (UniProtKB/Swiss-Prot),   P52746 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510090   ⟸   XM_011511788
- Peptide Label: isoform X1
- UniProtKB: A0A7P0N7C4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011510088   ⟸   XM_011511786
- Peptide Label: isoform X1
- UniProtKB: A0A7P0N7C4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001353219   ⟸   NM_001366290
- Peptide Label: isoform 3
- UniProtKB: A0A7P0N7C4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353218   ⟸   NM_001366289
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001353217   ⟸   NM_001366288
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001353216   ⟸   NM_001366287
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001353220   ⟸   NM_001366291
- Peptide Label: isoform 1
- UniProtKB: P52746 (UniProtKB/Swiss-Prot),   Q92510 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001354269   ⟸   NM_001367340
- Peptide Label: isoform 4
- UniProtKB: F2Z2H3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354271   ⟸   NM_001367342
- Peptide Label: isoform 4
- UniProtKB: F2Z2H3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354270   ⟸   NM_001367341
- Peptide Label: isoform 4
- UniProtKB: F2Z2H3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354268   ⟸   NM_001367339
- Peptide Label: isoform 4
- UniProtKB: F2Z2H3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366589   ⟸   NM_001379660
- Peptide Label: isoform 3
- UniProtKB: A0A7P0N7C4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366590   ⟸   NM_001379661
- Peptide Label: isoform 3
- UniProtKB: A0A7P0N7C4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366591   ⟸   NM_001379662
- Peptide Label: isoform 1
- UniProtKB: P52746 (UniProtKB/Swiss-Prot),   Q92510 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001366588   ⟸   NM_001379659
- Peptide Label: isoform 3
- UniProtKB: A0A7P0N7C4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000400424   ⟸   ENST00000450560
RefSeq Acc Id: ENSP00000397456   ⟸   ENST00000450765
RefSeq Acc Id: ENSP00000398798   ⟸   ENST00000411696
RefSeq Acc Id: ENSP00000415156   ⟸   ENST00000440934
RefSeq Acc Id: ENSP00000391599   ⟸   ENST00000432460
RefSeq Acc Id: ENSP00000405477   ⟸   ENST00000433921
RefSeq Acc Id: ENSP00000408643   ⟸   ENST00000449707
RefSeq Acc Id: XP_047301738   ⟸   XM_047445782
- Peptide Label: isoform X2
- UniProtKB: P52746 (UniProtKB/Swiss-Prot),   Q92510 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301736   ⟸   XM_047445780
- Peptide Label: isoform X2
- UniProtKB: P52746 (UniProtKB/Swiss-Prot),   Q92510 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301737   ⟸   XM_047445781
- Peptide Label: isoform X2
- UniProtKB: P52746 (UniProtKB/Swiss-Prot),   Q92510 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301734   ⟸   XM_047445778
- Peptide Label: isoform X2
- UniProtKB: P52746 (UniProtKB/Swiss-Prot),   Q92510 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301735   ⟸   XM_047445779
- Peptide Label: isoform X2
- UniProtKB: P52746 (UniProtKB/Swiss-Prot),   Q92510 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301733   ⟸   XM_047445777
- Peptide Label: isoform X1
- UniProtKB: A0A7P0N7C4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047301740   ⟸   XM_047445784
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047301739   ⟸   XM_047445783
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054199783   ⟸   XM_054343808
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199778   ⟸   XM_054343803
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054199781   ⟸   XM_054343806
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199777   ⟸   XM_054343802
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054199782   ⟸   XM_054343807
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199779   ⟸   XM_054343804
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199780   ⟸   XM_054343805
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199776   ⟸   XM_054343801
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054199785   ⟸   XM_054343810
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054199784   ⟸   XM_054343809
- Peptide Label: isoform X3
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52746-F1-model_v2 AlphaFold P52746 1-1687 view protein structure

Promoters
RGD ID:6862828
Promoter ID:EPDNEW_H4579
Type:initiation region
Name:ZNF142_1
Description:zinc finger protein 142
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,659,608 - 218,659,668EPDNEW
RGD ID:6798492
Promoter ID:HG_KWN:37262
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000336840,   UC002VIL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,229,011 - 219,229,511 (-)MPROMDB
RGD ID:6798497
Promoter ID:HG_KWN:37263
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562
Transcripts:ENST00000336124,   ENST00000396788,   OTTHUMT00000336838,   OTTHUMT00000336839,   UC002VIM.1,   UC002VIN.1,   UC010FVT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,231,701 - 219,232,562 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12927 AgrOrtholog
COSMIC ZNF142 COSMIC
Ensembl Genes ENSG00000115568 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000411696 ENTREZGENE
  ENST00000411696.7 UniProtKB/TrEMBL
  ENST00000433921.5 UniProtKB/TrEMBL
  ENST00000440934.2 UniProtKB/TrEMBL
  ENST00000449707 ENTREZGENE
  ENST00000449707.5 UniProtKB/Swiss-Prot
  ENST00000450560.1 UniProtKB/TrEMBL
  ENST00000450765.5 UniProtKB/TrEMBL
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115568 GTEx
HGNC ID HGNC:12927 ENTREZGENE
Human Proteome Map ZNF142 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7701 UniProtKB/Swiss-Prot
NCBI Gene 7701 ENTREZGENE
OMIM 604083 OMIM
PANTHER LD43035P UniProtKB/TrEMBL
  ZINC FINGER PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER PROTEIN 142 UniProtKB/Swiss-Prot
  ZINC FINGER PROTEIN 142 UniProtKB/TrEMBL
  ZINC FINGER PROTEIN 142 UniProtKB/TrEMBL
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2_6 UniProtKB/Swiss-Prot
PharmGKB PA37514 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 A0A7P0N7C4 ENTREZGENE, UniProtKB/TrEMBL
  C9J055_HUMAN UniProtKB/TrEMBL
  F2Z2H3 ENTREZGENE, UniProtKB/TrEMBL
  H7C414_HUMAN UniProtKB/TrEMBL
  P52746 ENTREZGENE
  Q92510 ENTREZGENE
  ZN142_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q92510 UniProtKB/Swiss-Prot