PCGF3 (polycomb group ring finger 3) - Rat Genome Database

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Gene: PCGF3 (polycomb group ring finger 3) Homo sapiens
Analyze
Symbol: PCGF3
Name: polycomb group ring finger 3
RGD ID: 1344033
HGNC Page HGNC:10066
Description: Predicted to enable histone H2AK119 ubiquitin ligase activity. Predicted to be involved in random inactivation of X chromosome and regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of PcG protein complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686D20235; DONG1; FLJ36550; FLJ43813; MGC129615; MGC40413; polycomb group RING finger protein 3; ring finger protein 3; RING finger protein 3A; RNF3; RNF3A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AL121579.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384705,832 - 770,089 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4705,748 - 770,089 (+)EnsemblGRCh38hg38GRCh38
GRCh374699,621 - 763,877 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364689,573 - 754,428 (+)NCBINCBI36Build 36hg18NCBI36
Build 344689,572 - 754,255NCBI
Celera4654,586 - 701,073 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef4674,466 - 735,220 (+)NCBIHuRef
CHM1_14699,353 - 761,389 (+)NCBICHM1_1
T2T-CHM13v2.04705,458 - 767,880 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
nucleoplasm  (IDA,IEA)
nucleus  (IDA,IEA)
PcG protein complex  (IDA,IEA)
PRC1 complex  (IBA,IEA)
X chromosome  (IEA,ISS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. PRC1 complex diversity: where is it taking us? Gil J and O'Loghlen A, Trends Cell Biol. 2014 Jul 22. pii: S0962-8924(14)00102-0. doi: 10.1016/j.tcb.2014.06.005.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Occupying chromatin: Polycomb mechanisms for getting to genomic targets, stopping transcriptional traffic, and staying put. Simon JA and Kingston RE, Mol Cell. 2013 Mar 7;49(5):808-24. doi: 10.1016/j.molcel.2013.02.013.
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:19549727   PMID:21282530   PMID:21873635   PMID:22325352   PMID:22443383   PMID:22493164   PMID:22939624  
PMID:23455922   PMID:23523425   PMID:24457600   PMID:24981860   PMID:25416956   PMID:25519132   PMID:26151332   PMID:26186194   PMID:27173435   PMID:27568929   PMID:27705803   PMID:28514442  
PMID:28611215   PMID:29117863   PMID:29220657   PMID:29509190   PMID:29589913   PMID:31091453   PMID:31391242   PMID:32296183   PMID:32397904   PMID:32707033   PMID:33485844   PMID:33961781  
PMID:34857952   PMID:35140242   PMID:35271311   PMID:35364009   PMID:36736316   PMID:38297188  


Genomics

Comparative Map Data
PCGF3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384705,832 - 770,089 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4705,748 - 770,089 (+)EnsemblGRCh38hg38GRCh38
GRCh374699,621 - 763,877 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364689,573 - 754,428 (+)NCBINCBI36Build 36hg18NCBI36
Build 344689,572 - 754,255NCBI
Celera4654,586 - 701,073 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef4674,466 - 735,220 (+)NCBIHuRef
CHM1_14699,353 - 761,389 (+)NCBICHM1_1
T2T-CHM13v2.04705,458 - 767,880 (+)NCBIT2T-CHM13v2.0
Pcgf3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395108,609,082 - 108,654,842 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5108,609,098 - 108,654,842 (+)EnsemblGRCm39 Ensembl
GRCm385108,461,259 - 108,506,976 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5108,461,232 - 108,506,976 (+)EnsemblGRCm38mm10GRCm38
MGSCv375108,890,351 - 108,932,118 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365108,701,634 - 108,743,401 (+)NCBIMGSCv36mm8
Celera5105,582,876 - 105,624,630 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map553.13NCBI
Pcgf3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8141,381,976 - 1,436,709 (-)NCBIGRCr8
mRatBN7.2141,237,594 - 1,291,717 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl141,233,947 - 1,291,793 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx141,136,329 - 1,173,467 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0142,438,091 - 2,475,222 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0141,134,803 - 1,171,901 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0142,247,805 - 2,297,155 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl142,247,808 - 2,297,155 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0142,242,206 - 2,295,509 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4141,824,819 - 1,839,263 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1141,784,275 - 1,835,105 (-)NCBI
Celera141,276,942 - 1,313,583 (-)NCBICelera
Cytogenetic Map14p22NCBI
Pcgf3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955514307,332 - 350,039 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955514307,331 - 350,039 (+)NCBIChiLan1.0ChiLan1.0
PCGF3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v231,015,288 - 1,086,487 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14973,254 - 1,043,017 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04802,990 - 874,063 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14746,147 - 805,443 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4746,137 - 805,443 (+)Ensemblpanpan1.1panPan2
PCGF3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1391,673,424 - 91,708,751 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl391,676,496 - 91,708,754 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha394,138,937 - 94,187,941 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0392,673,047 - 92,722,052 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl392,673,047 - 92,722,019 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1391,844,192 - 91,893,180 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0391,900,171 - 91,949,129 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0392,281,790 - 92,330,796 (-)NCBIUU_Cfam_GSD_1.0
Pcgf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528568,647,474 - 68,671,564 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647722,349,171 - 22,373,393 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647722,349,166 - 22,373,256 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCGF3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8140,446 - 182,261 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18140,435 - 189,796 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2880,086 - 128,768 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PCGF3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12748,015,976 - 48,077,688 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2748,020,010 - 48,053,520 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660514,401,028 - 4,463,055 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pcgf3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475526,294,689 - 26,326,318 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475526,294,675 - 26,344,864 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PCGF3
26 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(chr4:72555-1405362)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(chr4:72555-761448)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 4p16.3-16.2(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(chr4:620566-1405362)x3 copy number gain See cases [RCV000135648] Chr4:620566..1405362 [GRCh38]
Chr4:614355..1399150 [GRCh37]
Chr4:604355..1389150 [NCBI36]
Chr4:4p16.3
uncertain significance
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(chr4:36424-3265531)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(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(chr4:586039-964873)x3 copy number gain See cases [RCV000240015] Chr4:586039..964873 [GRCh37]
Chr4:4p16.3
uncertain significance
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(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
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 4p16.3-15.31(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 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
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 4p16.3-16.1(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(chr4:29214-1925508)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
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 4p16.3-15.32(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-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(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-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
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
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(chr4:738603-753697)x3 copy number gain not provided [RCV000743168] Chr4:738603..753697 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:738816-753697)x3 copy number gain not provided [RCV000743169] Chr4:738816..753697 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:738816-753944)x3 copy number gain not provided [RCV000743170] Chr4:738816..753944 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:752188-753697)x3 copy number gain not provided [RCV000743171] Chr4:752188..753697 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:752507-753697)x3 copy number gain not provided [RCV000743172] Chr4:752507..753697 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:752725-753697)x3 copy number gain not provided [RCV000743173] Chr4:752725..753697 [GRCh37]
Chr4:4p16.3
benign
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_006315.7(PCGF3):c.582C>T (p.Asn194=) single nucleotide variant not provided [RCV000948672] Chr4:761398 [GRCh38]
Chr4:755186 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:703668-869177)x3 copy number gain not provided [RCV000856649] Chr4:703668..869177 [GRCh37]
Chr4:4p16.3
uncertain significance
NM_006315.7(PCGF3):c.540G>A (p.Ala180=) single nucleotide variant not provided [RCV000966901] Chr4:761356 [GRCh38]
Chr4:755144 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:750638-922471)x3 copy number gain not provided [RCV000846492] Chr4:750638..922471 [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 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
NM_006315.7(PCGF3):c.640C>T (p.His214Tyr) single nucleotide variant See cases [RCV001197055] Chr4:765023 [GRCh38]
Chr4:758811 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3(chr4:750638-922471)x3 copy number gain not provided [RCV000846516] Chr4:750638..922471 [GRCh37]
Chr4:4p16.3
uncertain significance
NC_000004.11:g.(?_520808)_(1020391_?)del deletion Intellectual disability, autosomal recessive 53 [RCV003105432] Chr4:520808..1020391 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:600446-729427)x3 copy number gain not provided [RCV002473473] Chr4:600446..729427 [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(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
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 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.2(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 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
GRCh37/hg19 4p16.3(chr4:687413-1054539)x3 copy number gain not provided [RCV001258636] Chr4:687413..1054539 [GRCh37]
Chr4:4p16.3
uncertain significance
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
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3 copy number gain not provided [RCV001258635] Chr4:68345..2503033 [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(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2
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(chr4:1-1328868)x1 copy number loss not provided [RCV001258632] Chr4:1..1328868 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3
pathogenic
NC_000004.11:g.(?_493125)_(998181_?)del deletion Intellectual disability, autosomal recessive 53 [RCV001382628] Chr4:493125..998181 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:374557-745174) copy number gain Autism [RCV001352671] Chr4:374557..745174 [GRCh37]
Chr4:4p16.3
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 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
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
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)_(2065854_?)del deletion not provided [RCV001975185] Chr4:493125..2065854 [GRCh37]
Chr4:4p16.3
pathogenic
NC_000004.11:g.(?_493125)_(998181_?)dup duplication Intellectual disability, autosomal recessive 53 [RCV001877367] Chr4:493125..998181 [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
NC_000004.11:g.(?_493125)_(1843544_?)del deletion not provided [RCV003119410] Chr4:493125..1843544 [GRCh37]
Chr4:4p16.3
uncertain significance
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 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1 copy number loss not provided [RCV002472653] Chr4:68346..2437290 [GRCh37]
Chr4:4p16.3
pathogenic
NM_006315.7(PCGF3):c.322A>C (p.Ile108Leu) single nucleotide variant Inborn genetic diseases [RCV002712781] Chr4:743533 [GRCh38]
Chr4:737321 [GRCh37]
Chr4:4p16.3
uncertain significance
NM_006315.7(PCGF3):c.365A>G (p.His122Arg) single nucleotide variant Inborn genetic diseases [RCV002892370] Chr4:743576 [GRCh38]
Chr4:737364 [GRCh37]
Chr4:4p16.3
uncertain significance
NM_006315.7(PCGF3):c.434A>G (p.Asp145Gly) single nucleotide variant Inborn genetic diseases [RCV002713172] Chr4:744660 [GRCh38]
Chr4:738448 [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_006315.7(PCGF3):c.500G>A (p.Arg167His) single nucleotide variant Inborn genetic diseases [RCV003384645] Chr4:761316 [GRCh38]
Chr4:755104 [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(chr4:607649-929424)x3 copy number gain not provided [RCV003484167] Chr4:607649..929424 [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
GRCh37/hg19 4p16.3(chr4:444267-1325962)x3 copy number gain not provided [RCV003484165] Chr4:444267..1325962 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3(chr4:619416-1107252)x3 copy number gain not provided [RCV003435233] Chr4:619416..1107252 [GRCh37]
Chr4:4p16.3
uncertain significance
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(chr4:68345-3510024)x1 copy number loss not specified [RCV003986499] Chr4:68345..3510024 [GRCh37]
Chr4:4p16.3
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(chr4:68346-3122209)x1 copy number loss not specified [RCV003986538] Chr4:68346..3122209 [GRCh37]
Chr4:4p16.3
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:7947
Count of miRNA genes:1350
Interacting mature miRNAs:1790
Transcripts:ENST00000362003, ENST00000400151, ENST00000419774, ENST00000427463, ENST00000430644, ENST00000433814, ENST00000440452, ENST00000470161, ENST00000475288, ENST00000482726, ENST00000484141, ENST00000488032, ENST00000505655, ENST00000521023
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-67755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374728,030 - 728,172UniSTSGRCh37
Build 364718,030 - 718,172RGDNCBI36
Celera4668,069 - 668,211RGD
Cytogenetic Map4p16.3UniSTS
HuRef4701,671 - 701,813UniSTS
GeneMap99-GB4 RH Map417.07UniSTS
NCBI RH Map410.0UniSTS
SHGC-24018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374763,652 - 763,770UniSTSGRCh37
Build 364753,652 - 753,770RGDNCBI36
Celera4700,297 - 700,415RGD
Cytogenetic Map4p16.3UniSTS
HuRef4734,444 - 734,562UniSTS
TNG Radiation Hybrid Map4454.0UniSTS
GeneMap99-G3 RH Map474.0UniSTS
RH121994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374762,828 - 763,157UniSTSGRCh37
Build 364752,828 - 753,157RGDNCBI36
Celera4699,473 - 699,802RGD
Cytogenetic Map4p16.3UniSTS
HuRef4733,620 - 733,949UniSTS
TNG Radiation Hybrid Map4450.0UniSTS
G65725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374737,855 - 738,269UniSTSGRCh37
Build 364727,855 - 728,269RGDNCBI36
Celera4677,843 - 678,257RGD
Cytogenetic Map4p16.3UniSTS
HuRef4711,445 - 711,859UniSTS
SHGC-67595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374762,361 - 762,468UniSTSGRCh37
Build 364752,361 - 752,468RGDNCBI36
Celera4699,006 - 699,113RGD
Cytogenetic Map4p16.3UniSTS
HuRef4733,153 - 733,260UniSTS
GeneMap99-GB4 RH Map416.97UniSTS
SHGC-67747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374761,731 - 761,907UniSTSGRCh37
Build 364751,731 - 751,907RGDNCBI36
Celera4698,376 - 698,552RGD
Cytogenetic Map4p16.3UniSTS
HuRef4732,525 - 732,701UniSTS
GeneMap99-GB4 RH Map417.07UniSTS
NCBI RH Map410.0UniSTS
A006I29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374763,269 - 763,371UniSTSGRCh37
Build 364753,269 - 753,371RGDNCBI36
Celera4699,914 - 700,016RGD
Cytogenetic Map4p16.3UniSTS
HuRef4734,061 - 734,163UniSTS
GeneMap99-GB4 RH Map417.07UniSTS
NCBI RH Map432.3UniSTS
SHGC-59717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374760,040 - 760,221UniSTSGRCh37
Build 364750,040 - 750,221RGDNCBI36
Celera4696,685 - 696,866RGD
Cytogenetic Map4p16.3UniSTS
HuRef4730,834 - 731,015UniSTS
GeneMap99-GB4 RH Map417.07UniSTS
NCBI RH Map432.3UniSTS
SHGC-59165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374760,258 - 760,360UniSTSGRCh37
Build 364750,258 - 750,360RGDNCBI36
Celera4696,903 - 697,005RGD
Cytogenetic Map4p16.3UniSTS
HuRef4731,052 - 731,154UniSTS
GeneMap99-GB4 RH Map417.07UniSTS
Whitehead-RH Map47.0UniSTS
NCBI RH Map432.3UniSTS
SGC31069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374738,216 - 738,357UniSTSGRCh37
Build 364728,216 - 728,357RGDNCBI36
Celera4678,204 - 678,345RGD
Cytogenetic Map4p16.3UniSTS
HuRef4711,806 - 711,947UniSTS
TNG Radiation Hybrid Map4396.0UniSTS
GeneMap99-GB4 RH Map417.07UniSTS
Whitehead-RH Map45.1UniSTS
NCBI RH Map433.6UniSTS
G34948  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.3UniSTS
RH66980  
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 pharyngeal arch
High
Medium 2426 2276 1559 464 1599 306 3755 1309 3051 335 1448 1598 174 1 1204 2193 6 1
Low 13 715 167 160 352 159 602 888 683 84 12 15 1 595 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA401257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC061897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI758022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ882065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA454695 (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
  CX761238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX761943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX867889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC398096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000362003   ⟹   ENSP00000354724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4705,832 - 770,089 (+)Ensembl
RefSeq Acc Id: ENST00000400151   ⟹   ENSP00000383015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4705,784 - 734,479 (+)Ensembl
RefSeq Acc Id: ENST00000419774   ⟹   ENSP00000416279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4705,748 - 734,943 (+)Ensembl
RefSeq Acc Id: ENST00000427463   ⟹   ENSP00000401431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4705,784 - 735,009 (+)Ensembl
RefSeq Acc Id: ENST00000430644   ⟹   ENSP00000402946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4705,832 - 766,599 (+)Ensembl
RefSeq Acc Id: ENST00000433814   ⟹   ENSP00000398493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4725,107 - 743,538 (+)Ensembl
RefSeq Acc Id: ENST00000440452   ⟹   ENSP00000405840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4705,943 - 767,864 (+)Ensembl
RefSeq Acc Id: ENST00000470161   ⟹   ENSP00000420489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4705,784 - 766,608 (+)Ensembl
RefSeq Acc Id: ENST00000475288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4705,782 - 731,345 (+)Ensembl
RefSeq Acc Id: ENST00000482726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4705,784 - 734,842 (+)Ensembl
RefSeq Acc Id: ENST00000484141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4705,875 - 737,540 (+)Ensembl
RefSeq Acc Id: ENST00000488032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4743,865 - 761,364 (+)Ensembl
RefSeq Acc Id: ENST00000620529   ⟹   ENSP00000479441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4768,189 - 770,087 (+)Ensembl
RefSeq Acc Id: NM_001317836   ⟹   NP_001304765
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384705,832 - 770,089 (+)NCBI
CHM1_14699,310 - 761,729 (+)NCBI
T2T-CHM13v2.04705,458 - 767,880 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001395245   ⟹   NP_001382174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384705,832 - 770,089 (+)NCBI
T2T-CHM13v2.04705,458 - 767,880 (+)NCBI
RefSeq Acc Id: NM_001395246   ⟹   NP_001382175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384705,832 - 770,089 (+)NCBI
T2T-CHM13v2.04705,458 - 767,880 (+)NCBI
RefSeq Acc Id: NM_001395247   ⟹   NP_001382176
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384725,156 - 770,089 (+)NCBI
T2T-CHM13v2.04725,084 - 767,880 (+)NCBI
RefSeq Acc Id: NM_001395248   ⟹   NP_001382177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384725,156 - 770,089 (+)NCBI
T2T-CHM13v2.04725,084 - 767,880 (+)NCBI
RefSeq Acc Id: NM_001395249   ⟹   NP_001382178
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384725,156 - 770,089 (+)NCBI
T2T-CHM13v2.04725,084 - 767,880 (+)NCBI
RefSeq Acc Id: NM_001395250   ⟹   NP_001382179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384705,832 - 770,089 (+)NCBI
T2T-CHM13v2.04705,458 - 767,880 (+)NCBI
RefSeq Acc Id: NM_001395251   ⟹   NP_001382180
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384725,156 - 770,089 (+)NCBI
T2T-CHM13v2.04725,084 - 767,880 (+)NCBI
RefSeq Acc Id: NM_006315   ⟹   NP_006306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384705,832 - 770,089 (+)NCBI
GRCh374699,537 - 764,428 (+)NCBI
Build 364689,573 - 754,428 (+)NCBI Archive
Celera4654,586 - 701,073 (+)RGD
HuRef4674,466 - 735,220 (+)RGD
CHM1_14699,310 - 761,729 (+)NCBI
T2T-CHM13v2.04705,458 - 767,880 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449500   ⟹   XP_047305456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384733,796 - 770,089 (+)NCBI
RefSeq Acc Id: XM_054348726   ⟹   XP_054204701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04733,725 - 767,880 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001304765 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382174 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382175 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382176 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382177 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382178 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382179 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382180 (Get FASTA)   NCBI Sequence Viewer  
  NP_006306 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305456 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204701 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI07062 (Get FASTA)   NCBI Sequence Viewer  
  BAG51868 (Get FASTA)   NCBI Sequence Viewer  
  BAG54250 (Get FASTA)   NCBI Sequence Viewer  
  BAG62047 (Get FASTA)   NCBI Sequence Viewer  
  CAD38631 (Get FASTA)   NCBI Sequence Viewer  
  EAW82651 (Get FASTA)   NCBI Sequence Viewer  
  EAW82652 (Get FASTA)   NCBI Sequence Viewer  
  EAW82653 (Get FASTA)   NCBI Sequence Viewer  
  EAW82654 (Get FASTA)   NCBI Sequence Viewer  
  EAW82655 (Get FASTA)   NCBI Sequence Viewer  
  EAW82656 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354724
  ENSP00000354724.5
  ENSP00000383015.2
  ENSP00000398493.1
  ENSP00000401431.1
  ENSP00000402946.1
  ENSP00000405840.1
  ENSP00000416279.1
  ENSP00000420489.2
  ENSP00000479441.1
GenBank Protein Q3KNV8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006306   ⟸   NM_006315
- Peptide Label: isoform a
- UniProtKB: D3DVN1 (UniProtKB/Swiss-Prot),   O15262 (UniProtKB/Swiss-Prot),   Q3KNV8 (UniProtKB/Swiss-Prot),   B3KQ06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304765   ⟸   NM_001317836
- Peptide Label: isoform a
- UniProtKB: D3DVN1 (UniProtKB/Swiss-Prot),   O15262 (UniProtKB/Swiss-Prot),   Q3KNV8 (UniProtKB/Swiss-Prot),   B3KQ06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000479441   ⟸   ENST00000620529
RefSeq Acc Id: ENSP00000401431   ⟸   ENST00000427463
RefSeq Acc Id: ENSP00000383015   ⟸   ENST00000400151
RefSeq Acc Id: ENSP00000405840   ⟸   ENST00000440452
RefSeq Acc Id: ENSP00000354724   ⟸   ENST00000362003
RefSeq Acc Id: ENSP00000416279   ⟸   ENST00000419774
RefSeq Acc Id: ENSP00000402946   ⟸   ENST00000430644
RefSeq Acc Id: ENSP00000420489   ⟸   ENST00000470161
RefSeq Acc Id: ENSP00000398493   ⟸   ENST00000433814
RefSeq Acc Id: NP_001382174   ⟸   NM_001395245
- Peptide Label: isoform a
- UniProtKB: Q3KNV8 (UniProtKB/Swiss-Prot),   D3DVN1 (UniProtKB/Swiss-Prot),   O15262 (UniProtKB/Swiss-Prot),   B3KQ06 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001382175   ⟸   NM_001395246
- Peptide Label: isoform a
- UniProtKB: Q3KNV8 (UniProtKB/Swiss-Prot),   D3DVN1 (UniProtKB/Swiss-Prot),   O15262 (UniProtKB/Swiss-Prot),   B3KQ06 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001382179   ⟸   NM_001395250
- Peptide Label: isoform b
- UniProtKB: B3KWT8 (UniProtKB/TrEMBL),   B3KQ06 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001382176   ⟸   NM_001395247
- Peptide Label: isoform a
- UniProtKB: Q3KNV8 (UniProtKB/Swiss-Prot),   D3DVN1 (UniProtKB/Swiss-Prot),   O15262 (UniProtKB/Swiss-Prot),   B3KQ06 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001382177   ⟸   NM_001395248
- Peptide Label: isoform a
- UniProtKB: Q3KNV8 (UniProtKB/Swiss-Prot),   D3DVN1 (UniProtKB/Swiss-Prot),   O15262 (UniProtKB/Swiss-Prot),   B3KQ06 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001382180   ⟸   NM_001395251
- Peptide Label: isoform b
- UniProtKB: B3KWT8 (UniProtKB/TrEMBL),   B3KQ06 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001382178   ⟸   NM_001395249
- Peptide Label: isoform a
- UniProtKB: Q3KNV8 (UniProtKB/Swiss-Prot),   D3DVN1 (UniProtKB/Swiss-Prot),   O15262 (UniProtKB/Swiss-Prot),   B3KQ06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305456   ⟸   XM_047449500
- Peptide Label: isoform X1
- UniProtKB: B3KWT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204701   ⟸   XM_054348726
- Peptide Label: isoform X1
- UniProtKB: B3KWT8 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3KNV8-F1-model_v2 AlphaFold Q3KNV8 1-242 view protein structure

Promoters
RGD ID:6802532
Promoter ID:HG_KWN:47627
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000400151,   OTTHUMT00000239197,   OTTHUMT00000318554,   OTTHUMT00000318557,   OTTHUMT00000318558,   OTTHUMT00000318559,   OTTHUMT00000318562,   OTTHUMT00000318563,   UC003GBC.1,   UC003GBD.1,   UC010IBH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364689,251 - 689,751 (+)MPROMDB
RGD ID:6866786
Promoter ID:EPDNEW_H6557
Type:initiation region
Name:PCGF3_1
Description:polycomb group ring finger 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6558  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384705,837 - 705,897EPDNEW
RGD ID:6866788
Promoter ID:EPDNEW_H6558
Type:single initiation site
Name:PCGF3_2
Description:polycomb group ring finger 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6557  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384711,132 - 711,192EPDNEW
RGD ID:6802514
Promoter ID:HG_KWN:47630
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   NB4
Transcripts:UC003GBG.1,   UC003GBH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364716,976 - 717,632 (+)MPROMDB
RGD ID:6802513
Promoter ID:HG_KWN:47631
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000318561
Position:
Human AssemblyChrPosition (strand)Source
Build 364726,656 - 727,387 (+)MPROMDB
RGD ID:6815506
Promoter ID:HG_MRA:11706
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:AL832536,   BC028026,   BC050044,   BX640894,   CR607501
Position:
Human AssemblyChrPosition (strand)Source
Build 364749,676 - 750,176 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10066 AgrOrtholog
COSMIC PCGF3 COSMIC
Ensembl Genes ENSG00000185619 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000362003 ENTREZGENE
  ENST00000362003.10 UniProtKB/Swiss-Prot
  ENST00000400151.6 UniProtKB/TrEMBL
  ENST00000419774.5 UniProtKB/TrEMBL
  ENST00000427463.5 UniProtKB/TrEMBL
  ENST00000430644.5 UniProtKB/TrEMBL
  ENST00000433814.5 UniProtKB/TrEMBL
  ENST00000440452.5 UniProtKB/TrEMBL
  ENST00000470161.6 UniProtKB/Swiss-Prot
  ENST00000620529.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185619 GTEx
HGNC ID HGNC:10066 ENTREZGENE
Human Proteome Map PCGF3 Human Proteome Map
InterPro RAWUL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C3HC4_RING-type UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10336 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10336 ENTREZGENE
OMIM 617543 OMIM
PANTHER POLYCOMB GROUP RING FINGER PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYCOMB GROUP RING FINGER PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RAWUL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C3HC4 UniProtKB/TrEMBL
  zf-C3HC4_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34433 PharmGKB
PROSITE ZF_RING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVH5_HUMAN UniProtKB/TrEMBL
  B3KQ06 ENTREZGENE, UniProtKB/TrEMBL
  B3KWT8 ENTREZGENE, UniProtKB/TrEMBL
  B4DTN5_HUMAN UniProtKB/TrEMBL
  B5MEC4_HUMAN UniProtKB/TrEMBL
  C9J3G7_HUMAN UniProtKB/TrEMBL
  C9JGV3_HUMAN UniProtKB/TrEMBL
  C9JYD0_HUMAN UniProtKB/TrEMBL
  D3DVN1 ENTREZGENE
  F2Z3P3_HUMAN UniProtKB/TrEMBL
  O15262 ENTREZGENE
  PCGF3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DVN1 UniProtKB/Swiss-Prot
  O15262 UniProtKB/Swiss-Prot