ZNF141 (zinc finger protein 141) - Rat Genome Database

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Gene: ZNF141 (zinc finger protein 141) Homo sapiens
Analyze
Symbol: ZNF141
Name: zinc finger protein 141
RGD ID: 1353813
HGNC Page HGNC:12926
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in limb morphogenesis and negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D4S90; PAPA6; pHZ-44; zinc finger protein 141 (clone pHZ-44)
RGD Orthologs
Bonobo
Alliance Genes
More Info more info ...
Related Pseudogenes: ZNF876P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384337,814 - 384,868 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4337,814 - 384,868 (+)EnsemblGRCh38hg38GRCh38
GRCh374331,603 - 378,657 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364321,617 - 359,047 (+)NCBINCBI36Build 36hg18NCBI36
Build 344321,623 - 359,045NCBI
Celera4273,305 - 309,402 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef4303,031 - 339,128 (+)NCBIHuRef
CHM1_14331,406 - 367,525 (+)NCBICHM1_1
T2T-CHM13v2.04331,204 - 378,261 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component
nucleus  (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. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7649249   PMID:8268908   PMID:8889548   PMID:9671765   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:21873635   PMID:23160277   PMID:26515020   PMID:35563538  


Genomics

Comparative Map Data
ZNF141
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384337,814 - 384,868 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4337,814 - 384,868 (+)EnsemblGRCh38hg38GRCh38
GRCh374331,603 - 378,657 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364321,617 - 359,047 (+)NCBINCBI36Build 36hg18NCBI36
Build 344321,623 - 359,045NCBI
Celera4273,305 - 309,402 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef4303,031 - 339,128 (+)NCBIHuRef
CHM1_14331,406 - 367,525 (+)NCBICHM1_1
T2T-CHM13v2.04331,204 - 378,261 (+)NCBIT2T-CHM13v2.0
ZNF141
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23593,878 - 640,204 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14564,296 - 610,612 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04338,963 - 385,278 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14362,837 - 409,733 (+)NCBIpanpan1.1PanPan1.1panPan2

Variants

.
Variants in ZNF141
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003441.4(ZNF141):c.1421C>T (p.Thr474Ile) single nucleotide variant Polydactyly, postaxial, type A6 [RCV000043502] Chr4:373858 [GRCh38]
Chr4:367647 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000050809] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:51519-435002)x1 copy number loss See cases [RCV000050832] Chr4:51519..435002 [GRCh38]
Chr4:41413..418791 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1405362)x3 copy number gain See cases [RCV000051563] Chr4:72555..1405362 [GRCh38]
Chr4:72447..1399150 [GRCh37]
Chr4:62447..1389150 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-2213205)x1 copy number loss See cases [RCV000051638] Chr4:56878..2213205 [GRCh38]
Chr4:56772..2214932 [GRCh37]
Chr4:46772..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2108748)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|See cases [RCV000051639] Chr4:72355..2108748 [GRCh38]
Chr4:72247..2110475 [GRCh37]
Chr4:62247..2080273 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2400359)x1 copy number loss See cases [RCV000051640] Chr4:72355..2400359 [GRCh38]
Chr4:72247..2402086 [GRCh37]
Chr4:62247..2371884 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2009034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|See cases [RCV000051669] Chr4:72555..2009034 [GRCh38]
Chr4:72447..2010761 [GRCh37]
Chr4:62447..1980559 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2325477)x1 copy number loss See cases [RCV000051643] Chr4:72555..2325477 [GRCh38]
Chr4:72447..2327204 [GRCh37]
Chr4:62447..2297002 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-1919505)x1 copy number loss See cases [RCV000053259] Chr4:85149..1919505 [GRCh38]
Chr4:85040..1921232 [GRCh37]
Chr4:75040..1891030 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-2008535)x1 copy number loss See cases [RCV000053260] Chr4:85149..2008535 [GRCh38]
Chr4:85040..2010262 [GRCh37]
Chr4:75040..1980060 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:336191-2213205)x1 copy number loss See cases [RCV000053261] Chr4:336191..2213205 [GRCh38]
Chr4:507005..2214932 [GRCh37]
Chr4:319980..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-475382)x1 copy number loss See cases [RCV000054033] Chr4:56878..475382 [GRCh38]
Chr4:46772..459171 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3(chr4:72555-761448)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054034]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054034]|See cases [RCV000054034] Chr4:72555..761448 [GRCh38]
Chr4:72447..755236 [GRCh37]
Chr4:62447..745236 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3(chr4:72555-620625)x1 copy number loss See cases [RCV000054035] Chr4:72555..620625 [GRCh38]
Chr4:72447..614414 [GRCh37]
Chr4:62447..604414 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3(chr4:85149-634761)x1 copy number loss See cases [RCV000054036] Chr4:85149..634761 [GRCh38]
Chr4:85040..628550 [GRCh37]
Chr4:75040..618550 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:227660-570745)x3 copy number gain See cases [RCV000135142] Chr4:227660..570745 [GRCh38]
Chr4:221449..564534 [GRCh37]
Chr4:211449..554534 [NCBI36]
Chr4:4p16.3		 likely benign
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1153038)x1 copy number loss See cases [RCV000137135] Chr4:72555..1153038 [GRCh38]
Chr4:72447..1146826 [GRCh37]
Chr4:62447..1136826 [NCBI36]
Chr4:4p16.3		 likely benign|uncertain significance
GRCh38/hg38 4p16.3(chr4:51519-1405362)x1 copy number loss See cases [RCV000136895] Chr4:51519..1405362 [GRCh38]
Chr4:51413..1399150 [GRCh37]
Chr4:41413..1389150 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1581567)x3 copy number gain See cases [RCV000137386] Chr4:36424..1581567 [GRCh38]
Chr4:36424..1583294 [GRCh37]
Chr4:26424..1553260 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1581567)x1 copy number loss See cases [RCV000139439] Chr4:72555..1581567 [GRCh38]
Chr4:72447..1583294 [GRCh37]
Chr4:62447..1553260 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-475382)x1 copy number loss See cases [RCV000139012] Chr4:36424..475382 [GRCh38]
Chr4:26424..459171 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-690085)x1 copy number loss See cases [RCV000139940] Chr4:72555..690085 [GRCh38]
Chr4:72447..683874 [GRCh37]
Chr4:62447..673874 [NCBI36]
Chr4:4p16.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:68453-1997458)x1 copy number loss See cases [RCV000141882] Chr4:68453..1997458 [GRCh38]
Chr4:68345..1999185 [GRCh37]
Chr4:58345..1968983 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 copy number loss See cases [RCV000143324] Chr4:72555..2689579 [GRCh38]
Chr4:72447..2691306 [GRCh37]
Chr4:62447..2661104 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1562150)x1 copy number loss See cases [RCV000143217] Chr4:36424..1562150 [GRCh38]
Chr4:36424..1563877 [GRCh37]
Chr4:26424..1533937 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1956092)x1 copy number loss See cases [RCV000143172] Chr4:36424..1956092 [GRCh38]
Chr4:36424..1957819 [GRCh37]
Chr4:26424..1927617 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000148263] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:127233-494358)x3 copy number gain See cases [RCV000449208] Chr4:127233..494358 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:68345-2126308)x1 copy number loss See cases [RCV000449467] Chr4:68345..2126308 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2155022)x1 copy number loss See cases [RCV000447208] Chr4:68345..2155022 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:366739-450846)x1 copy number loss See cases [RCV000446541] Chr4:366739..450846 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:347552-435171)x1 copy number loss See cases [RCV000445770] Chr4:347552..435171 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:71552-466306)x1 copy number loss See cases [RCV000445910] Chr4:71552..466306 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:366739-435171)x1 copy number loss See cases [RCV000448026] Chr4:366739..435171 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1 copy number loss See cases [RCV000449010] Chr4:68345..2502977 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1 copy number loss See cases [RCV000447910] Chr4:29214..1925508 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:139374-734351)x3 copy number gain See cases [RCV000448193] Chr4:139374..734351 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_003441.4(ZNF141):c.973A>T (p.Thr325Ser) single nucleotide variant not specified [RCV000454848] Chr4:373410 [GRCh38]
Chr4:367199 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_003441.4(ZNF141):c.980C>G (p.Thr327Ser) single nucleotide variant not specified [RCV000455659] Chr4:373417 [GRCh38]
Chr4:367206 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-1677853)x1 copy number loss See cases [RCV000511217] Chr4:68345..1677853 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.451G>A (p.Val151Ile) single nucleotide variant Inborn genetic diseases [RCV003275034] Chr4:372888 [GRCh38]
Chr4:366677 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:68345-899143)x1 copy number loss See cases [RCV000512414] Chr4:68345..899143 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:121549-533541)x3 copy number gain not provided [RCV000682364] Chr4:121549..533541 [GRCh37]
Chr4:4p16.3		 uncertain significance
Single allele duplication not provided [RCV000677909] Chr4:12440..1583294 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:11525-973036)x1 copy number loss not provided [RCV000743146] Chr4:11525..973036 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:49450-2010397)x1 copy number loss not provided [RCV000743153] Chr4:49450..2010397 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_003441.4(ZNF141):c.1419T>C (p.His473=) single nucleotide variant ZNF141-related condition [RCV003940607]|not provided [RCV000888486] Chr4:373856 [GRCh38]
Chr4:367645 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_003441.4(ZNF141):c.487C>T (p.Arg163Cys) single nucleotide variant not provided [RCV000894637] Chr4:372924 [GRCh38]
Chr4:366713 [GRCh37]
Chr4:4p16.3		 likely benign
NM_003441.4(ZNF141):c.386G>A (p.Gly129Asp) single nucleotide variant ZNF141-related condition [RCV003930813]|not provided [RCV000891935] Chr4:372823 [GRCh38]
Chr4:366612 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:329688-679511)x3 copy number gain not provided [RCV000848434] Chr4:329688..679511 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:285042-422822)x1 copy number loss not provided [RCV000848798] Chr4:285042..422822 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1 copy number loss not provided [RCV001005508] Chr4:68345..2786584 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-418132)x3 copy number gain not provided [RCV000846034] Chr4:68345..418132 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-694966)x1 copy number loss not provided [RCV000847202] Chr4:68345..694966 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:217957-501424)x3 copy number gain not provided [RCV000846874] Chr4:217957..501424 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_003441.4(ZNF141):c.1179A>G (p.Lys393=) single nucleotide variant ZNF141-related condition [RCV003940550]|not provided [RCV000886514] Chr4:373616 [GRCh38]
Chr4:367405 [GRCh37]
Chr4:4p16.3		 benign
NM_003441.4(ZNF141):c.370A>G (p.Lys124Glu) single nucleotide variant not provided [RCV000950393] Chr4:372807 [GRCh38]
Chr4:366596 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1 copy number loss not provided [RCV002472653] Chr4:68346..2437290 [GRCh37]
Chr4:4p16.3		 pathogenic
NG_052984.1:g.5128= duplication Polydactyly, postaxial, type A6 [RCV001544386]   benign
GRCh37/hg19 4p16.3(chr4:121101-355120)x3 copy number gain not provided [RCV001005516] Chr4:121101..355120 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3 copy number gain not provided [RCV001258635] Chr4:68345..2503033 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1-1328868)x1 copy number loss not provided [RCV001258632] Chr4:1..1328868 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:350794-451532)x3 copy number gain not provided [RCV001258631] Chr4:350794..451532 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:68345-1109959)x1 copy number loss not provided [RCV001258641] Chr4:68345..1109959 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1 copy number loss not provided [RCV001258634] Chr4:68345..2137211 [GRCh37]
Chr4:4p16.3		 pathogenic
Single allele complex Heart, malformation of [RCV002280661] Chr4:68345..1870548 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:312744-694965)x3 copy number gain not provided [RCV001258638] Chr4:312744..694965 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.1047_1050del (p.Arg349fs) deletion Postaxial polydactyly type A6 [RCV001336037] Chr4:373482..373485 [GRCh38]
Chr4:367271..367274 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_003441.4(ZNF141):c.226+1G>T single nucleotide variant Postaxial polydactyly type A6 [RCV001336038] Chr4:344431 [GRCh38]
Chr4:338220 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NC_000004.11:g.(?_264888)_(682916_?)dup duplication not provided [RCV001364768] Chr4:264888..682916 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.12:g.1_705161del deletion not provided [RCV001420673] Chr4:1..705161 [GRCh38]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.204_205insGA (p.Lys69fs) insertion ZNF141-related condition [RCV003976143]|not specified [RCV001733598] Chr4:344408..344409 [GRCh38]
Chr4:338197..338198 [GRCh37]
Chr4:4p16.3		 benign
NM_003441.4(ZNF141):c.209_210del (p.Ile70fs) deletion ZNF141-related condition [RCV003976144]|not specified [RCV001733599] Chr4:344413..344414 [GRCh38]
Chr4:338202..338203 [GRCh37]
Chr4:4p16.3		 benign
NC_000004.11:g.(?_124553)_(502759_?)dup duplication Intellectual disability, autosomal recessive 53 [RCV002043305] Chr4:124553..502759 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-1675143)x1 copy number loss not provided [RCV001834475] Chr4:68345..1675143 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-1512353) copy number loss Global developmental delay [RCV002280748] Chr4:68345..1512353 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:365898-623209)x3 copy number gain not provided [RCV002474816] Chr4:365898..623209 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_003441.4(ZNF141):c.814A>G (p.Lys272Glu) single nucleotide variant Inborn genetic diseases [RCV002972712] Chr4:373251 [GRCh38]
Chr4:367040 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.353A>G (p.Lys118Arg) single nucleotide variant Inborn genetic diseases [RCV002757261] Chr4:372790 [GRCh38]
Chr4:366579 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.1385G>A (p.Arg462Gln) single nucleotide variant Inborn genetic diseases [RCV003001229] Chr4:373822 [GRCh38]
Chr4:367611 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.362A>G (p.Asn121Ser) single nucleotide variant Inborn genetic diseases [RCV002767201] Chr4:372799 [GRCh38]
Chr4:366588 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.71A>G (p.Asp24Gly) single nucleotide variant Inborn genetic diseases [RCV002665442] Chr4:343849 [GRCh38]
Chr4:337638 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.236C>T (p.Ser79Phe) single nucleotide variant Inborn genetic diseases [RCV002984578] Chr4:372673 [GRCh38]
Chr4:366462 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.1217G>T (p.Arg406Leu) single nucleotide variant Inborn genetic diseases [RCV002956446]|not provided [RCV003434635] Chr4:373654 [GRCh38]
Chr4:367443 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_003441.4(ZNF141):c.728C>T (p.Ala243Val) single nucleotide variant Inborn genetic diseases [RCV002826723] Chr4:373165 [GRCh38]
Chr4:366954 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.1094G>C (p.Arg365Pro) single nucleotide variant Inborn genetic diseases [RCV002960578] Chr4:373531 [GRCh38]
Chr4:367320 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_003441.4(ZNF141):c.1259A>C (p.Asp420Ala) single nucleotide variant Inborn genetic diseases [RCV002879395] Chr4:373696 [GRCh38]
Chr4:367485 [GRCh37]
Chr4:4p16.3		 likely benign
NM_003441.4(ZNF141):c.1132C>T (p.Arg378Trp) single nucleotide variant Inborn genetic diseases [RCV003174329] Chr4:373569 [GRCh38]
Chr4:367358 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_003441.4(ZNF141):c.1352A>T (p.Tyr451Phe) single nucleotide variant Inborn genetic diseases [RCV003346155] Chr4:373789 [GRCh38]
Chr4:367578 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2681414)x1 copy number loss not provided [RCV003485406] Chr4:68346..2681414 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3510024)x1 copy number loss not specified [RCV003986499] Chr4:68345..3510024 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68346-3122209)x1 copy number loss not specified [RCV003986538] Chr4:68346..3122209 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_003441.4(ZNF141):c.1049A>G (p.Gln350Arg) single nucleotide variant ZNF141-related condition [RCV003977417] Chr4:373486 [GRCh38]
Chr4:367275 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:68345-463962)x1 copy number loss not specified [RCV003986478] Chr4:68345..463962 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_003441.4(ZNF141):c.975C>A (p.Thr325=) single nucleotide variant ZNF141-related condition [RCV003924413] Chr4:373412 [GRCh38]
Chr4:367201 [GRCh37]
Chr4:4p16.3		 likely benign
NM_003441.4(ZNF141):c.1041T>C (p.Ala347=) single nucleotide variant ZNF141-related condition [RCV003984529] Chr4:373478 [GRCh38]
Chr4:367267 [GRCh37]
Chr4:4p16.3		 likely benign
NM_003441.4(ZNF141):c.1058A>T (p.Lys353Ile) single nucleotide variant ZNF141-related condition [RCV003976386] Chr4:373495 [GRCh38]
Chr4:367284 [GRCh37]
Chr4:4p16.3		 benign
NM_003441.4(ZNF141):c.1064A>G (p.Asn355Ser) single nucleotide variant ZNF141-related condition [RCV003981596] Chr4:373501 [GRCh38]
Chr4:367290 [GRCh37]
Chr4:4p16.3		 likely benign
NM_003441.4(ZNF141):c.226+13976G>A single nucleotide variant ZNF141-related condition [RCV003924636] Chr4:358406 [GRCh38]
Chr4:352195 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_003441.4(ZNF141):c.207G>C (p.Lys69Asn) single nucleotide variant ZNF141-related condition [RCV003979683] Chr4:344411 [GRCh38]
Chr4:338200 [GRCh37]
Chr4:4p16.3		 benign
NM_003441.4(ZNF141):c.*9237C>A single nucleotide variant ZNF141-related condition [RCV003979856] Chr4:383099 [GRCh38]
Chr4:376888 [GRCh37]
Chr4:4p16.3		 benign
NM_003441.4(ZNF141):c.1059A>T (p.Lys353Asn) single nucleotide variant ZNF141-related condition [RCV003973855] Chr4:373496 [GRCh38]
Chr4:367285 [GRCh37]
Chr4:4p16.3		 benign
NM_003441.4(ZNF141):c.136G>A (p.Ala46Thr) single nucleotide variant ZNF141-related condition [RCV003974727] Chr4:344340 [GRCh38]
Chr4:338129 [GRCh37]
Chr4:4p16.3		 benign
NM_003441.4(ZNF141):c.1065T>C (p.Asn355=) single nucleotide variant ZNF141-related condition [RCV003976473] Chr4:373502 [GRCh38]
Chr4:367291 [GRCh37]
Chr4:4p16.3		 likely benign
NM_003441.4(ZNF141):c.1335T>C (p.His445=) single nucleotide variant ZNF141-related condition [RCV003893751] Chr4:373772 [GRCh38]
Chr4:367561 [GRCh37]
Chr4:4p16.3		 likely benign
NM_003441.4(ZNF141):c.198G>A (p.Lys66=) single nucleotide variant ZNF141-related condition [RCV003972088] Chr4:344402 [GRCh38]
Chr4:338191 [GRCh37]
Chr4:4p16.3		 likely benign
NM_003441.4(ZNF141):c.212T>C (p.Val71Ala) single nucleotide variant ZNF141-related condition [RCV003974600] Chr4:344416 [GRCh38]
Chr4:338205 [GRCh37]
Chr4:4p16.3		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1652
Count of miRNA genes:803
Interacting mature miRNAs:929
Transcripts:ENST00000240499, ENST00000366506, ENST00000503699, ENST00000505939, ENST00000512994, ENST00000579770
Prediction methods: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.

Markers in Region
G33430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374367,672 - 368,006UniSTSGRCh37
Build 364357,672 - 358,006RGDNCBI36
Celera4309,383 - 309,717RGD
Cytogenetic Map4p16.3UniSTS
HuRef4339,109 - 339,443UniSTS
D4S3146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374367,844 - 368,006UniSTSGRCh37
Build 364357,844 - 358,006RGDNCBI36
Celera4309,555 - 309,717RGD
Cytogenetic Map4p16.3UniSTS
HuRef4339,281 - 339,443UniSTS
GeneMap99-G3 RH Map416.0UniSTS
UniSTS:481985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375105,879,494 - 105,879,872UniSTSGRCh37
GRCh375105,879,410 - 105,879,872UniSTSGRCh37
Build 365105,907,309 - 105,907,771RGDNCBI36
Celera5101,820,188 - 101,820,566RGD
HuRef5101,055,598 - 101,055,976UniSTS
HuRef5101,055,514 - 101,055,976UniSTS
UniSTS:486333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375105,879,497 - 105,879,865UniSTSGRCh37
GRCh375105,879,413 - 105,879,865UniSTSGRCh37
Build 365105,907,312 - 105,907,764RGDNCBI36
Celera5101,820,191 - 101,820,559RGD
HuRef5101,055,601 - 101,055,969UniSTS
HuRef5101,055,517 - 101,055,969UniSTS
SHGC-58309  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.3UniSTS


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
High
Medium 48 116 141 5 495 7 322 34 228 27 336 213 2 3 157 1
Low 2354 2606 1560 595 1164 436 3945 2050 3489 389 1114 1389 172 1 1201 2553 4
Below cutoff 32 267 25 22 289 22 89 110 16 3 10 9 1 78 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA312024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA385292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA460146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA799182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L15309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000240499   ⟹   ENSP00000240499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4337,814 - 384,868 (+)Ensembl
RefSeq Acc Id: ENST00000366506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4337,814 - 373,026 (+)Ensembl
RefSeq Acc Id: ENST00000503699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4337,833 - 358,550 (+)Ensembl
RefSeq Acc Id: ENST00000505939   ⟹   ENSP00000424403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4337,834 - 384,864 (+)Ensembl
RefSeq Acc Id: ENST00000512994   ⟹   ENSP00000425799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4337,820 - 383,971 (+)Ensembl
RefSeq Acc Id: ENST00000579770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4378,039 - 383,268 (+)Ensembl
RefSeq Acc Id: NM_001348277   ⟹   NP_001335206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384337,814 - 384,868 (+)NCBI
T2T-CHM13v2.04331,204 - 378,261 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348278   ⟹   NP_001335207
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384337,814 - 384,868 (+)NCBI
T2T-CHM13v2.04331,204 - 378,261 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348279   ⟹   NP_001335208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384337,814 - 361,231 (+)NCBI
T2T-CHM13v2.04331,204 - 354,624 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348280   ⟹   NP_001335209
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384337,814 - 361,231 (+)NCBI
T2T-CHM13v2.04331,204 - 354,624 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003441   ⟹   NP_003432
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384337,814 - 384,868 (+)NCBI
GRCh374331,417 - 370,076 (+)NCBI
Build 364321,617 - 359,047 (+)NCBI Archive
Celera4273,305 - 309,402 (+)RGD
HuRef4303,031 - 339,128 (+)RGD
CHM1_14331,406 - 367,525 (+)NCBI
T2T-CHM13v2.04331,204 - 378,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513562   ⟹   XP_011511864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384338,625 - 384,868 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008591   ⟹   XP_016864080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384338,625 - 384,868 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416147   ⟹   XP_047272103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384338,461 - 384,868 (+)NCBI
RefSeq Acc Id: XM_054350812   ⟹   XP_054206787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04332,016 - 378,261 (+)NCBI
RefSeq Acc Id: XM_054350813   ⟹   XP_054206788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04332,016 - 378,261 (+)NCBI
RefSeq Acc Id: XM_054350814   ⟹   XP_054206789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04331,852 - 378,261 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_003432   ⟸   NM_003441
- Peptide Label: isoform 1
- UniProtKB: Q6DK07 (UniProtKB/Swiss-Prot),   Q15928 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511864   ⟸   XM_011513562
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016864080   ⟸   XM_017008591
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001335207   ⟸   NM_001348278
- Peptide Label: isoform 3
- UniProtKB: D6RIY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335206   ⟸   NM_001348277
- Peptide Label: isoform 2
- UniProtKB: Q4W5N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335209   ⟸   NM_001348280
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001335208   ⟸   NM_001348279
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000240499   ⟸   ENST00000240499
RefSeq Acc Id: ENSP00000424403   ⟸   ENST00000505939
RefSeq Acc Id: ENSP00000425799   ⟸   ENST00000512994
RefSeq Acc Id: XP_047272103   ⟸   XM_047416147
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054206789   ⟸   XM_054350814
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054206787   ⟸   XM_054350812
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054206788   ⟸   XM_054350813
- Peptide Label: isoform X2
Protein Domains
C2H2-type   KRAB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15928-F1-model_v2 AlphaFold Q15928 1-474 view protein structure

Promoters
RGD ID:6802780
Promoter ID:HG_KWN:47611
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000240499,   UC003FZZ.2,   UC003GAB.2,   UC010IBC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364321,179 - 321,679 (+)MPROMDB
RGD ID:6866756
Promoter ID:EPDNEW_H6543
Type:initiation region
Name:ZNF141_1
Description:zinc finger protein 141
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6542  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384337,814 - 337,874EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12926 AgrOrtholog
COSMIC ZNF141 COSMIC
Ensembl Genes ENSG00000131127 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000240499 ENTREZGENE
  ENST00000240499.8 UniProtKB/Swiss-Prot
  ENST00000505939.5 UniProtKB/TrEMBL
  ENST00000512994 ENTREZGENE
  ENST00000512994.5 UniProtKB/TrEMBL
Gene3D-CATH 6.10.140.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131127 GTEx
HGNC ID HGNC:12926 ENTREZGENE
Human Proteome Map ZNF141 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7700 UniProtKB/Swiss-Prot
NCBI Gene 7700 ENTREZGENE
OMIM 194648 OMIM
PANTHER AA987161 PROTEIN UniProtKB/Swiss-Prot
  KRAB DOMAIN C2H2 ZINC FINGER UniProtKB/TrEMBL
  KRAB DOMAIN-CONTAINING PROTEIN 5-RELATED UniProtKB/TrEMBL
  PR DOMAIN ZINC FINGER PROTEIN UniProtKB/TrEMBL
  ZINC FINGER PROTEIN UniProtKB/Swiss-Prot
  ZINC FINGER PROTEIN 711 UniProtKB/TrEMBL
  ZINC FINGER PROTEIN 738 UniProtKB/TrEMBL
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37513 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6RB60_HUMAN UniProtKB/TrEMBL
  D6RIY0 ENTREZGENE, UniProtKB/TrEMBL
  Q15928 ENTREZGENE
  Q4W5N2 ENTREZGENE, UniProtKB/TrEMBL
  Q6DK07 ENTREZGENE
  ZN141_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6DK07 UniProtKB/Swiss-Prot