POLN (DNA polymerase nu) - Rat Genome Database

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Gene: POLN (DNA polymerase nu) Homo sapiens
Analyze
Symbol: POLN
Name: DNA polymerase nu
RGD ID: 1354283
HGNC Page HGNC:18870
Description: Enables DNA-directed DNA polymerase activity and cyclin binding activity. Involved in double-strand break repair via homologous recombination; interstrand cross-link repair; and translesion synthesis. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA polymerase N; DNA polymerase POL4P; POL4P; polymerase (DNA directed) nu; polymerase (DNA) nu
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
GRCh3842,071,918 - 2,242,121 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl42,071,918 - 2,242,121 (-)EnsemblGRCh38hg38GRCh38
GRCh3742,073,645 - 2,243,848 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3642,043,443 - 2,200,756 (-)NCBINCBI36Build 36hg18NCBI36
Build 3442,040,875 - 2,198,189NCBI
Celera41,985,702 - 2,143,306 (-)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef42,014,374 - 2,171,947 (-)NCBIHuRef
CHM1_142,072,213 - 2,229,450 (-)NCBICHM1_1
T2T-CHM13v2.042,070,398 - 2,240,896 (-)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
nucleolus  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. 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:12794064   PMID:14702039   PMID:16344560   PMID:16611994   PMID:17118716   PMID:19908865   PMID:19995904   PMID:20102227   PMID:20379614   PMID:20554254   PMID:20967207   PMID:21242293  
PMID:21671477   PMID:21873635   PMID:22008035   PMID:22159054   PMID:22262850   PMID:22456510   PMID:22623772   PMID:23045531   PMID:24768535   PMID:25963146   PMID:26269593   PMID:26740629  
PMID:26903512   PMID:27226627   PMID:27694439   PMID:29330301   PMID:29987050   PMID:30033366   PMID:30368948   PMID:30709915   PMID:30842261   PMID:32098870   PMID:33175093   PMID:34088846  
PMID:34461101   PMID:35815634   PMID:36116213  


Genomics

Comparative Map Data
POLN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3842,071,918 - 2,242,121 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl42,071,918 - 2,242,121 (-)EnsemblGRCh38hg38GRCh38
GRCh3742,073,645 - 2,243,848 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3642,043,443 - 2,200,756 (-)NCBINCBI36Build 36hg18NCBI36
Build 3442,040,875 - 2,198,189NCBI
Celera41,985,702 - 2,143,306 (-)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef42,014,374 - 2,171,947 (-)NCBIHuRef
CHM1_142,072,213 - 2,229,450 (-)NCBICHM1_1
T2T-CHM13v2.042,070,398 - 2,240,896 (-)NCBIT2T-CHM13v2.0
Poln
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39534,164,523 - 34,326,870 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl534,164,523 - 34,326,792 (-)EnsemblGRCm39 Ensembl
GRCm38534,007,179 - 34,169,526 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl534,007,179 - 34,169,448 (-)EnsemblGRCm38mm10GRCm38
MGSCv37534,349,847 - 34,512,097 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36534,324,055 - 34,486,305 (-)NCBIMGSCv36mm8
Celera531,476,932 - 31,640,050 (-)NCBICelera
Cytogenetic Map5B2NCBI
cM Map517.83NCBI
Poln
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21476,579,983 - 76,752,460 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1476,580,546 - 76,752,463 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01481,837,764 - 82,037,999 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1481,858,737 - 82,037,747 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01482,523,719 - 82,722,239 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1475,524,689 - 75,676,034 (+)NCBICelera
Cytogenetic Map14q21NCBI
Poln
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555141,215,131 - 1,329,024 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555141,214,867 - 1,342,172 (-)NCBIChiLan1.0ChiLan1.0
POLN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v232,404,778 - 2,575,828 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan142,341,304 - 2,512,246 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v042,214,154 - 2,385,094 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.142,122,309 - 2,292,795 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl42,122,309 - 2,292,431 (-)Ensemblpanpan1.1panPan2
POLN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1361,946,295 - 62,104,112 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl361,962,193 - 62,102,264 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha364,465,228 - 64,620,444 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0362,421,614 - 62,578,083 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl362,421,579 - 62,577,883 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1361,915,440 - 62,070,656 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0362,118,175 - 62,274,316 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0362,478,086 - 62,634,319 (+)NCBIUU_Cfam_GSD_1.0
Poln
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528567,597,931 - 67,668,267 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647721,268,244 - 21,396,256 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647721,268,236 - 21,396,526 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl81,073,889 - 1,197,086 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.181,073,337 - 1,198,538 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28526,974 - 609,939 (-)NCBISscrofa10.2Sscrofa10.2susScr3
POLN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12746,523,052 - 46,694,474 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660512,893,413 - 3,061,528 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Poln
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475525,330,001 - 25,464,389 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475525,316,590 - 25,464,048 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in POLN
78 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3		 pathogenic
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(chr4:1196923-2487080)x3 copy number gain See cases [RCV000051564] Chr4:1196923..2487080 [GRCh38]
Chr4:1190711..2488807 [GRCh37]
Chr4:1180711..2458605 [NCBI36]
Chr4:4p16.3		 uncertain significance
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 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 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 4p16.3-16.2(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 4p16.3-15.1(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(chr4:72555-5607083)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 4p16.3-14(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(chr4:72555-5034991)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 4p16.3-15.1(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(chr4:72555-2325477)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(chr4:336191-2213205)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 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
NM_181808.3(POLN):c.1554+5338C>T single nucleotide variant Lung cancer [RCV000094555] Chr4:2165341 [GRCh38]
Chr4:2167068 [GRCh37]
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
NM_181808.4(POLN):c.2267G>A (p.Arg756Gln) single nucleotide variant Malignant tumor of prostate [RCV000149381] Chr4:2081674 [GRCh38]
Chr4:2083401 [GRCh37]
Chr4:4p16.3		 uncertain significance
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 4p16.3-15.32(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(chr4:72555-3561655)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 4p16.3-12(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(chr4:2019774-3881330)x3 copy number gain See cases [RCV000138129] Chr4:2019774..3881330 [GRCh38]
Chr4:2021501..3883057 [GRCh37]
Chr4:1991299..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic|uncertain significance
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(chr4:1723429-2286479)x3 copy number gain See cases [RCV000137955] Chr4:1723429..2286479 [GRCh38]
Chr4:1725156..2288206 [GRCh37]
Chr4:1694954..2258004 [NCBI36]
Chr4:4p16.3		 uncertain significance
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(chr4:36424-3974044)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(chr4:36424-3265531)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 4p16.3-15.32(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 4p16.3-16.2(chr4:1964539-5912172)x1 copy number loss See cases [RCV000141940] Chr4:1964539..5912172 [GRCh38]
Chr4:1966266..5913899 [GRCh37]
Chr4:1936064..5964800 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1 copy number loss See cases [RCV000142330] Chr4:2007739..3078685 [GRCh38]
Chr4:2009466..3080412 [GRCh37]
Chr4:1979264..3050210 [NCBI36]
Chr4:4p16.3		 likely 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(chr4:36424-3881330)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 4p16.3-15.31(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
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:1190911-2255904)x1 copy number loss See cases [RCV000239816] Chr4:1190911..2255904 [GRCh37]
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 4p16.3-15.1(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 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [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
NM_181808.4(POLN):c.1088C>T (p.Pro363Leu) single nucleotide variant Inborn genetic diseases [RCV003266541] Chr4:2179399 [GRCh38]
Chr4:2181126 [GRCh37]
Chr4:4p16.3		 uncertain significance
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(chr4:68345-2126308)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-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 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(chr4:68345-2502977)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(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
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
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 4p16.3-15.32(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 4p16.3-15.33(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(chr4:1777904-2437290)x3 copy number gain See cases [RCV000510995] Chr4:1777904..2437290 [GRCh37]
Chr4:4p16.3		 uncertain significance
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
NM_001303143.2(HAUS3):c.635C>T (p.Ala212Val) single nucleotide variant Inborn genetic diseases [RCV003295627] Chr4:2240312 [GRCh38]
Chr4:2242039 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.140T>C (p.Val47Ala) single nucleotide variant Inborn genetic diseases [RCV003311398] Chr4:2240807 [GRCh38]
Chr4:2242534 [GRCh37]
Chr4:4p16.3		 uncertain significance
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(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1935934-2251241)x3 copy number gain See cases [RCV000512592] Chr4:1935934..2251241 [GRCh37]
Chr4:4p16.3		 uncertain significance
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(chr4:1770486-2303110)x3 copy number gain not provided [RCV000682366] Chr4:1770486..2303110 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:1998507-2986076)x3 copy number gain not provided [RCV000682369] Chr4:1998507..2986076 [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-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 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1500754-2344692)x3 copy number gain not provided [RCV000743203] Chr4:1500754..2344692 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:2009043-2078853)x1 copy number loss not provided [RCV000743215] Chr4:2009043..2078853 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:2060517-2074526)x0 copy number loss not provided [RCV000743218] Chr4:2060517..2074526 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:2060601-2074703)x1 copy number loss not provided [RCV000743219] Chr4:2060601..2074703 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:2175733-2917646)x1 copy number loss not provided [RCV000743221] Chr4:2175733..2917646 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:2230858-2273127)x3 copy number gain not provided [RCV000743222] Chr4:2230858..2273127 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NC_000004.12:g.(?_2059492)_(2833854_?)del deletion Fibrous dysplasia of jaw [RCV001033381] Chr4:2061219..2835581 [GRCh37]
Chr4:4p16.3		 uncertain significance
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
NM_181808.4(POLN):c.2509del (p.Gln837fs) deletion not provided [RCV000888223] Chr4:2072976 [GRCh38]
Chr4:2074703 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:1305802-2460571) copy number loss 4p partial monosomy syndrome [RCV000767708] Chr4:1305802..2460571 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_181808.4(POLN):c.1264C>A (p.Gln422Lys) single nucleotide variant Inborn genetic diseases [RCV003271532] Chr4:2174736 [GRCh38]
Chr4:2176463 [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
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1 copy number loss not provided [RCV001005508] Chr4:68345..2786584 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_001303143.2(HAUS3):c.704A>G (p.Glu235Gly) single nucleotide variant Inborn genetic diseases [RCV003241183] Chr4:2240243 [GRCh38]
Chr4:2241970 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.808A>G (p.Ile270Val) single nucleotide variant Inborn genetic diseases [RCV003249293] Chr4:2240139 [GRCh38]
Chr4:2241866 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.2614G>C (p.Glu872Gln) single nucleotide variant Inborn genetic diseases [RCV003252404] Chr4:2072203 [GRCh38]
Chr4:2073930 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.943C>T (p.Pro315Ser) single nucleotide variant not provided [RCV000885976] Chr4:2193282 [GRCh38]
Chr4:2195009 [GRCh37]
Chr4:4p16.3		 benign
NM_181808.4(POLN):c.2133T>G (p.Phe711Leu) single nucleotide variant not provided [RCV000963831] Chr4:2085677 [GRCh38]
Chr4:2087404 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:1892740-2503033)x3 copy number gain not provided [RCV002473658] Chr4:1892740..2503033 [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
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 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1 copy number loss not provided [RCV001258634] Chr4:68345..2137211 [GRCh37]
Chr4:4p16.3		 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 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1 copy number loss not provided [RCV001258633] Chr4:1941633..3879802 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_2200251)_(5710240_?)del deletion Ellis-van Creveld syndrome [RCV001386270] Chr4:2200251..5710240 [GRCh37]
Chr4:4p16.3-16.2		 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(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [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.(?_1619775)_(2181192_?)del deletion not provided [RCV001388563] Chr4:1619775..2181192 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001303143.2(HAUS3):c.660A>T (p.Lys220Asn) single nucleotide variant Inborn genetic diseases [RCV003252576] Chr4:2240287 [GRCh38]
Chr4:2242014 [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
NC_000004.11:g.(?_493125)_(3495228_?)del deletion Fibrous dysplasia of jaw [RCV001943824] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(2886413_?)del deletion Mucopolysaccharidosis type 1 [RCV001960721] Chr4:493125..2886413 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)dup duplication Fibrous dysplasia of jaw [RCV003113187] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1969C>G (p.Leu657Val) single nucleotide variant Inborn genetic diseases [RCV003255384] Chr4:2128126 [GRCh38]
Chr4:2129853 [GRCh37]
Chr4:4p16.3		 uncertain significance
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 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 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
NM_001303143.2(HAUS3):c.1208G>T (p.Arg403Leu) single nucleotide variant Inborn genetic diseases [RCV003262374] Chr4:2238745 [GRCh38]
Chr4:2240472 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1424G>A (p.Arg475Gln) single nucleotide variant Inborn genetic diseases [RCV003258421] Chr4:2171132 [GRCh38]
Chr4:2172859 [GRCh37]
Chr4:4p16.3		 likely benign
NM_181808.4(POLN):c.892C>T (p.His298Tyr) single nucleotide variant Inborn genetic diseases [RCV003259675] Chr4:2198540 [GRCh38]
Chr4:2200267 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.1513A>G (p.Lys505Glu) single nucleotide variant Inborn genetic diseases [RCV003304046] Chr4:2236293 [GRCh38]
Chr4:2238020 [GRCh37]
Chr4:4p16.3		 uncertain significance
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(chr4:2195665-2503033)x3 copy number gain not provided [RCV002474710] Chr4:2195665..2503033 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1 copy number loss not provided [RCV002472653] Chr4:68346..2437290 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:963688-2913553)x3 copy number gain not provided [RCV002473933] Chr4:963688..2913553 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_001303143.2(HAUS3):c.1229A>G (p.Gln410Arg) single nucleotide variant Inborn genetic diseases [RCV002993249] Chr4:2238724 [GRCh38]
Chr4:2240451 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1133C>T (p.Thr378Ile) single nucleotide variant Inborn genetic diseases [RCV002684266] Chr4:2179354 [GRCh38]
Chr4:2181081 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1589A>C (p.Lys530Thr) single nucleotide variant Inborn genetic diseases [RCV002990392] Chr4:2159177 [GRCh38]
Chr4:2160904 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1379G>A (p.Arg460His) single nucleotide variant Inborn genetic diseases [RCV003012933] Chr4:2171177 [GRCh38]
Chr4:2172904 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.1003A>G (p.Ser335Gly) single nucleotide variant Inborn genetic diseases [RCV002974115] Chr4:2238950 [GRCh38]
Chr4:2240677 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.177A>C (p.Gln59His) single nucleotide variant Inborn genetic diseases [RCV002905738] Chr4:2213083 [GRCh38]
Chr4:2214810 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.1759G>A (p.Val587Met) single nucleotide variant Inborn genetic diseases [RCV002883147] Chr4:2231980 [GRCh38]
Chr4:2233707 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.359G>T (p.Arg120Leu) single nucleotide variant Inborn genetic diseases [RCV002754805] Chr4:2240588 [GRCh38]
Chr4:2242315 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.1250T>G (p.Met417Arg) single nucleotide variant Inborn genetic diseases [RCV002821359] Chr4:2238703 [GRCh38]
Chr4:2240430 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.2251C>G (p.His751Asp) single nucleotide variant Inborn genetic diseases [RCV002799951] Chr4:2081690 [GRCh38]
Chr4:2083417 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.1333G>A (p.Asp445Asn) single nucleotide variant Inborn genetic diseases [RCV003000305] Chr4:2238620 [GRCh38]
Chr4:2240347 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1964C>T (p.Ser655Phe) single nucleotide variant Inborn genetic diseases [RCV002821636] Chr4:2128131 [GRCh38]
Chr4:2129858 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.2004G>C (p.Gln668His) single nucleotide variant Inborn genetic diseases [RCV002640849] Chr4:2095912 [GRCh38]
Chr4:2097639 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001303143.2(HAUS3):c.940A>T (p.Ile314Phe) single nucleotide variant Inborn genetic diseases [RCV002919474] Chr4:2239013 [GRCh38]
Chr4:2240740 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.274C>G (p.Pro92Ala) single nucleotide variant Inborn genetic diseases [RCV002743294] Chr4:2240673 [GRCh38]
Chr4:2242400 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.946A>G (p.Ser316Gly) single nucleotide variant Inborn genetic diseases [RCV002699624] Chr4:2239007 [GRCh38]
Chr4:2240734 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.298G>A (p.Glu100Lys) single nucleotide variant Inborn genetic diseases [RCV002787768] Chr4:2240649 [GRCh38]
Chr4:2242376 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.779T>C (p.Leu260Pro) single nucleotide variant Inborn genetic diseases [RCV002984559] Chr4:2240168 [GRCh38]
Chr4:2241895 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1879A>G (p.Ile627Val) single nucleotide variant Inborn genetic diseases [RCV002698830] Chr4:2128216 [GRCh38]
Chr4:2129943 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.176A>G (p.Gln59Arg) single nucleotide variant Inborn genetic diseases [RCV002712344] Chr4:2213084 [GRCh38]
Chr4:2214811 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.1553G>A (p.Gly518Glu) single nucleotide variant Inborn genetic diseases [RCV002664425] Chr4:2236253 [GRCh38]
Chr4:2237980 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.2459T>A (p.Leu820His) single nucleotide variant Inborn genetic diseases [RCV002827199] Chr4:2073026 [GRCh38]
Chr4:2074753 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.748T>G (p.Leu250Val) single nucleotide variant Inborn genetic diseases [RCV002713042] Chr4:2198684 [GRCh38]
Chr4:2200411 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.434C>T (p.Thr145Ile) single nucleotide variant Inborn genetic diseases [RCV002701721] Chr4:2240513 [GRCh38]
Chr4:2242240 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1282G>C (p.Glu428Gln) single nucleotide variant Inborn genetic diseases [RCV002874278] Chr4:2174718 [GRCh38]
Chr4:2176445 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1159A>T (p.Asn387Tyr) single nucleotide variant Inborn genetic diseases [RCV002788513] Chr4:2179328 [GRCh38]
Chr4:2181055 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.544G>A (p.Glu182Lys) single nucleotide variant Inborn genetic diseases [RCV002956351]|not provided [RCV003434634] Chr4:2208157 [GRCh38]
Chr4:2209884 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_181808.4(POLN):c.664G>T (p.Val222Leu) single nucleotide variant Inborn genetic diseases [RCV002955895] Chr4:2208037 [GRCh38]
Chr4:2209764 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.1369G>A (p.Gly457Arg) single nucleotide variant Inborn genetic diseases [RCV002835473] Chr4:2236437 [GRCh38]
Chr4:2238164 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.529G>T (p.Asp177Tyr) single nucleotide variant Inborn genetic diseases [RCV002988215]|not provided [RCV003435950] Chr4:2208172 [GRCh38]
Chr4:2209899 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_181808.4(POLN):c.95A>T (p.Asp32Val) single nucleotide variant Inborn genetic diseases [RCV002877693] Chr4:2229137 [GRCh38]
Chr4:2230864 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.2444C>T (p.Pro815Leu) single nucleotide variant Inborn genetic diseases [RCV002672730] Chr4:2075463 [GRCh38]
Chr4:2077190 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.351T>G (p.Ile117Met) single nucleotide variant Inborn genetic diseases [RCV002672370] Chr4:2240596 [GRCh38]
Chr4:2242323 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.2138A>C (p.Gln713Pro) single nucleotide variant Inborn genetic diseases [RCV002878190] Chr4:2085672 [GRCh38]
Chr4:2087399 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.2057A>G (p.Tyr686Cys) single nucleotide variant Inborn genetic diseases [RCV002792415] Chr4:2095859 [GRCh38]
Chr4:2097586 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1889G>A (p.Arg630His) single nucleotide variant Inborn genetic diseases [RCV002961110] Chr4:2128206 [GRCh38]
Chr4:2129933 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1192C>T (p.Arg398Cys) single nucleotide variant Inborn genetic diseases [RCV002702535] Chr4:2176322 [GRCh38]
Chr4:2178049 [GRCh37]
Chr4:4p16.3		 likely benign
NM_181808.4(POLN):c.92G>A (p.Gly31Asp) single nucleotide variant Inborn genetic diseases [RCV002723358] Chr4:2229140 [GRCh38]
Chr4:2230867 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.428A>C (p.Glu143Ala) single nucleotide variant Inborn genetic diseases [RCV002680273] Chr4:2240519 [GRCh38]
Chr4:2242246 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.712C>A (p.Gln238Lys) single nucleotide variant Inborn genetic diseases [RCV002652813] Chr4:2207989 [GRCh38]
Chr4:2209716 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1985A>C (p.Lys662Thr) single nucleotide variant Inborn genetic diseases [RCV003217228] Chr4:2095931 [GRCh38]
Chr4:2097658 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.1760T>C (p.Val587Ala) single nucleotide variant Inborn genetic diseases [RCV003220132] Chr4:2231979 [GRCh38]
Chr4:2233706 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.115T>C (p.Trp39Arg) single nucleotide variant Inborn genetic diseases [RCV003217168] Chr4:2229117 [GRCh38]
Chr4:2230844 [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
NM_181808.4(POLN):c.1328T>C (p.Ile443Thr) single nucleotide variant Inborn genetic diseases [RCV003283070] Chr4:2174001 [GRCh38]
Chr4:2175728 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 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
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_181808.4(POLN):c.2587G>A (p.Gly863Ser) single nucleotide variant Inborn genetic diseases [RCV003360403] Chr4:2072230 [GRCh38]
Chr4:2073957 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.2687C>T (p.Pro896Leu) single nucleotide variant Inborn genetic diseases [RCV003361562] Chr4:2072130 [GRCh38]
Chr4:2073857 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.2475G>A (p.Met825Ile) single nucleotide variant Inborn genetic diseases [RCV003344690] Chr4:2073010 [GRCh38]
Chr4:2074737 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1274G>A (p.Arg425His) single nucleotide variant Inborn genetic diseases [RCV003366004] Chr4:2174726 [GRCh38]
Chr4:2176453 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001303143.2(HAUS3):c.215T>C (p.Leu72Pro) single nucleotide variant Inborn genetic diseases [RCV003370039] Chr4:2240732 [GRCh38]
Chr4:2242459 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.128C>T (p.Thr43Ile) single nucleotide variant Inborn genetic diseases [RCV003377101] Chr4:2229104 [GRCh38]
Chr4:2230831 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1399G>A (p.Glu467Lys) single nucleotide variant Inborn genetic diseases [RCV003348253] Chr4:2171157 [GRCh38]
Chr4:2172884 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_181808.4(POLN):c.1177G>A (p.Val393Met) single nucleotide variant Inborn genetic diseases [RCV003369750] Chr4:2179310 [GRCh38]
Chr4:2181037 [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(chr4:1497034-2571696)x4 copy number gain not provided [RCV003485344] Chr4:1497034..2571696 [GRCh37]
Chr4:4p16.3		 uncertain significance
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
NM_181808.4(POLN):c.757C>T (p.Arg253Cys) single nucleotide variant not provided [RCV003434943] Chr4:2198675 [GRCh38]
Chr4:2200402 [GRCh37]
Chr4:4p16.3		 likely benign
NM_181808.4(POLN):c.2048C>T (p.Ala683Val) single nucleotide variant not provided [RCV003439214] Chr4:2095868 [GRCh38]
Chr4:2097595 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001303143.2(HAUS3):c.1679T>C (p.Leu560Ser) single nucleotide variant not provided [RCV003487896] Chr4:2232060 [GRCh38]
Chr4:2233787 [GRCh37]
Chr4:4p16.3		 uncertain significance
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 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68346-3122209)x1 copy number loss not specified [RCV003986538] Chr4:68346..3122209 [GRCh37]
Chr4:4p16.3		 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 4p16.3-15.33(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 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3572
Count of miRNA genes:855
Interacting mature miRNAs:1020
Transcripts:ENST00000382865, ENST00000503371, ENST00000503601, ENST00000506518, ENST00000508568, ENST00000509623, ENST00000510344, ENST00000511098, ENST00000511777, ENST00000511885, ENST00000514521, ENST00000514858, ENST00000515357
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D4S573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,145,015 - 2,145,242UniSTSGRCh37
Build 3642,114,813 - 2,115,040RGDNCBI36
Celera42,057,386 - 2,057,613RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,086,225 - 2,086,452UniSTS
TNG Radiation Hybrid Map41167.0UniSTS
RH103127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,232,044 - 2,232,231UniSTSGRCh37
Build 3642,201,842 - 2,202,029RGDNCBI36
Celera42,144,392 - 2,144,579RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,173,033 - 2,173,220UniSTS
GeneMap99-GB4 RH Map425.78UniSTS
D4S166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,109,333 - 2,110,236UniSTSGRCh37
Build 3642,079,131 - 2,080,034RGDNCBI36
Celera42,021,706 - 2,022,609RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,050,326 - 2,051,229UniSTS
D4S608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,093,837 - 2,094,033UniSTSGRCh37
Build 3642,063,635 - 2,063,831RGDNCBI36
Celera42,006,194 - 2,006,390RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,034,868 - 2,035,064UniSTS
SHGC-50695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,213,671 - 2,213,908UniSTSGRCh37
Build 3642,183,469 - 2,183,706RGDNCBI36
Celera42,126,019 - 2,126,256RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,154,660 - 2,154,897UniSTS
TNG Radiation Hybrid Map41204.0UniSTS
G34191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,087,489 - 2,087,640UniSTSGRCh37
Build 3642,057,287 - 2,057,438RGDNCBI36
Celera41,999,844 - 1,999,995RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,028,518 - 2,028,669UniSTS
G01869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,087,560 - 2,087,714UniSTSGRCh37
Build 3642,057,358 - 2,057,512RGDNCBI36
Celera41,999,915 - 2,000,069RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,028,589 - 2,028,743UniSTS
G16699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,213,641 - 2,213,812UniSTSGRCh37
Build 3642,183,439 - 2,183,610RGDNCBI36
Celera42,125,989 - 2,126,160RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,154,630 - 2,154,801UniSTS
D4S1182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,093,441 - 2,093,582UniSTSGRCh37
Build 3642,063,239 - 2,063,380RGDNCBI36
Celera42,005,796 - 2,005,939RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,034,470 - 2,034,613UniSTS
TNG Radiation Hybrid Map41153.0UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


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 2 3 1 4 15 8
Low 1925 1634 1366 298 813 155 3537 1202 3547 204 1306 1357 153 1 1186 2182 2 2
Below cutoff 510 1343 356 325 1124 309 818 995 183 214 138 249 21 10 606 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000382865   ⟹   ENSP00000372316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,071,918 - 2,229,231 (-)Ensembl
RefSeq Acc Id: ENST00000503371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,071,922 - 2,077,058 (-)Ensembl
RefSeq Acc Id: ENST00000503601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,081,396 - 2,090,305 (-)Ensembl
RefSeq Acc Id: ENST00000506518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,208,327 - 2,232,143 (-)Ensembl
RefSeq Acc Id: ENST00000508568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,081,110 - 2,083,010 (-)Ensembl
RefSeq Acc Id: ENST00000509623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,078,485 - 2,081,041 (-)Ensembl
RefSeq Acc Id: ENST00000510344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,156,497 - 2,159,211 (-)Ensembl
RefSeq Acc Id: ENST00000511098   ⟹   ENSP00000426401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,071,950 - 2,179,387 (-)Ensembl
RefSeq Acc Id: ENST00000511777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,071,960 - 2,081,053 (-)Ensembl
RefSeq Acc Id: ENST00000511885   ⟹   ENSP00000435506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,071,918 - 2,242,121 (-)Ensembl
RefSeq Acc Id: ENST00000514521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,071,960 - 2,076,447 (-)Ensembl
RefSeq Acc Id: ENST00000514858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,078,492 - 2,208,111 (-)Ensembl
RefSeq Acc Id: ENST00000515357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,156,394 - 2,242,121 (-)Ensembl
RefSeq Acc Id: NM_181808   ⟹   NP_861524
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,071,918 - 2,242,121 (-)NCBI
GRCh3742,073,645 - 2,243,848 (-)NCBI
Build 3642,043,443 - 2,200,756 (-)NCBI Archive
Celera41,985,702 - 2,143,306 (-)RGD
HuRef42,014,374 - 2,171,947 (-)ENTREZGENE
CHM1_142,072,253 - 2,242,382 (-)NCBI
T2T-CHM13v2.042,070,398 - 2,240,896 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_861524   ⟸   NM_181808
- UniProtKB: Q4TTW4 (UniProtKB/Swiss-Prot),   B4E158 (UniProtKB/Swiss-Prot),   A2A336 (UniProtKB/Swiss-Prot),   Q6ZNF4 (UniProtKB/Swiss-Prot),   Q7Z5Q5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000435506   ⟸   ENST00000511885
RefSeq Acc Id: ENSP00000426401   ⟸   ENST00000511098
RefSeq Acc Id: ENSP00000372316   ⟸   ENST00000382865
Protein Domains
DNA-directed DNA polymerase family A palm

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z5Q5-F1-model_v2 AlphaFold Q7Z5Q5 1-900 view protein structure

Promoters
RGD ID:6866878
Promoter ID:EPDNEW_H6604
Type:initiation region
Name:POLN_1
Description:DNA polymerase nu
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,242,121 - 2,242,181EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18870 AgrOrtholog
COSMIC POLN COSMIC
Ensembl Genes ENSG00000130997 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000382865.5 UniProtKB/Swiss-Prot
  ENST00000511098.1 UniProtKB/TrEMBL
  ENST00000511885 ENTREZGENE
  ENST00000511885.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.420.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5' to 3' exonuclease, C-terminal subdomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130997 GTEx
HGNC ID HGNC:18870 ENTREZGENE
Human Proteome Map POLN Human Proteome Map
InterPro DNA-dir_DNA_pol_A_palm_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA/RNA_pol_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_P_Exo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_polymerase_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:353497 UniProtKB/Swiss-Prot
NCBI Gene 353497 ENTREZGENE
OMIM 610887 OMIM
PANTHER DNA POLYMERASE NU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10133 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DNA_pol_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_P_Exo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134979866 PharmGKB
PRINTS DNAPOLI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART POLAc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56672 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2A336 ENTREZGENE
  B4E158 ENTREZGENE
  DPOLN_HUMAN UniProtKB/Swiss-Prot
  H0YA88_HUMAN UniProtKB/TrEMBL
  Q4TTW4 ENTREZGENE
  Q6ZNF4 ENTREZGENE
  Q7Z5Q5 ENTREZGENE
UniProt Secondary A2A336 UniProtKB/Swiss-Prot
  B4E158 UniProtKB/Swiss-Prot
  Q4TTW4 UniProtKB/Swiss-Prot
  Q6ZNF4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 POLN  DNA polymerase nu    polymerase (DNA) nu  Symbol and/or name change 5135510 APPROVED
2016-03-07 POLN  polymerase (DNA) nu    polymerase (DNA directed) nu  Symbol and/or name change 5135510 APPROVED