CEP43 (centrosomal protein 43) - Rat Genome Database

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Gene: CEP43 (centrosomal protein 43) Homo sapiens
Analyze
Symbol: CEP43
Name: centrosomal protein 43
RGD ID: 1313011
HGNC Page HGNC:17012
Description: Enables protein homodimerization activity; protein kinase binding activity; and protein tyrosine kinase inhibitor activity. Involved in positive regulation of cell growth; positive regulation of cell migration; and positive regulation of cell population proliferation. Located in centrosome; nucleus; and perinuclear region of cytoplasm. Part of centriole.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FGFR1 oncogene partner; FGFR1OP; fibroblast growth factor receptor 1 oncogene partner; FOP
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
GRCh386166,999,397 - 167,052,718 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6166,999,174 - 167,052,718 (+)EnsemblGRCh38hg38GRCh38
GRCh376167,412,885 - 167,466,206 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366167,332,806 - 167,374,056 (+)NCBINCBI36Build 36hg18NCBI36
Celera6168,155,162 - 168,196,395 (+)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6164,887,018 - 164,930,106 (+)NCBIHuRef
CHM1_16167,675,345 - 167,718,325 (+)NCBICHM1_1
T2T-CHM13v2.06168,383,647 - 168,436,936 (+)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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7790358   PMID:9949182   PMID:10373756   PMID:11076968   PMID:11689702   PMID:12221128   PMID:12477932   PMID:12852856   PMID:12969958   PMID:14574404   PMID:14654843   PMID:15144186  
PMID:15489334   PMID:16314388   PMID:16462731   PMID:16690081   PMID:17540176   PMID:17888034   PMID:18587394   PMID:18782753   PMID:19068216   PMID:19156129   PMID:20237496   PMID:20360068  
PMID:20379614   PMID:20526339   PMID:20570966   PMID:21399614   PMID:21841780   PMID:21873635   PMID:21900206   PMID:22990118   PMID:23554904   PMID:23850713   PMID:23935994   PMID:24613305  
PMID:25281560   PMID:25416956   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26905588   PMID:27173435   PMID:27872092   PMID:28330616   PMID:28428259   PMID:28514442  
PMID:28611215   PMID:28625565   PMID:28659385   PMID:28765046   PMID:29568061   PMID:29982567   PMID:30021884   PMID:30581152   PMID:31751430   PMID:31837246   PMID:32296183   PMID:32353859  
PMID:32707033   PMID:32994395   PMID:33060197   PMID:33462405   PMID:33961781   PMID:34079125   PMID:34259627   PMID:34597346   PMID:34917906   PMID:35271311   PMID:36779422   PMID:37827155  


Genomics

Comparative Map Data
CEP43
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386166,999,397 - 167,052,718 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6166,999,174 - 167,052,718 (+)EnsemblGRCh38hg38GRCh38
GRCh376167,412,885 - 167,466,206 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366167,332,806 - 167,374,056 (+)NCBINCBI36Build 36hg18NCBI36
Celera6168,155,162 - 168,196,395 (+)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6164,887,018 - 164,930,106 (+)NCBIHuRef
CHM1_16167,675,345 - 167,718,325 (+)NCBICHM1_1
T2T-CHM13v2.06168,383,647 - 168,436,936 (+)NCBIT2T-CHM13v2.0
Cep43
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39178,383,976 - 8,415,309 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl178,384,333 - 8,415,636 (+)EnsemblGRCm39 Ensembl
GRCm38178,165,143 - 8,196,477 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl178,165,501 - 8,196,804 (+)EnsemblGRCm38mm10GRCm38
MGSCv37178,358,401 - 8,389,333 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36178,003,710 - 8,034,642 (+)NCBIMGSCv36mm8
Celera178,217,501 - 8,245,005 (+)NCBICelera
Cytogenetic Map17A1NCBI
cM Map174.88NCBI
Cep43
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8155,080,983 - 55,111,509 (-)NCBIGRCr8
mRatBN7.2152,533,418 - 52,564,025 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl152,533,428 - 52,563,923 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx153,242,828 - 53,271,565 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0159,228,327 - 59,257,124 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0153,318,436 - 53,347,173 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0153,122,330 - 53,152,872 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl153,122,322 - 53,152,866 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0154,371,829 - 54,403,110 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4147,176,365 - 47,205,468 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera148,298,064 - 48,326,835 (-)NCBICelera
Cytogenetic Map1q12NCBI
Cep43
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543915,029,660 - 15,057,481 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543915,029,485 - 15,059,076 (-)NCBIChiLan1.0ChiLan1.0
CEP43
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25187,210,200 - 187,263,758 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16185,105,472 - 185,159,910 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06164,969,391 - 165,011,935 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16169,945,218 - 169,988,027 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6169,945,218 - 169,988,027 (+)Ensemblpanpan1.1panPan2
CEP43
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1154,853,159 - 54,877,492 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl154,852,395 - 54,877,450 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha155,638,546 - 55,667,596 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0155,029,733 - 55,058,822 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl155,029,728 - 55,059,550 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1154,926,499 - 54,955,491 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0154,775,190 - 54,804,253 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0155,400,452 - 55,429,426 (+)NCBIUU_Cfam_GSD_1.0
Cep43
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946149,339,979 - 149,379,430 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648916,592,062 - 16,629,359 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648916,591,959 - 16,629,703 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEP43
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl12,094,870 - 2,120,812 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.112,093,329 - 2,120,832 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213,237,717 - 3,263,721 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CEP43
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11394,755,014 - 94,799,305 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1394,755,189 - 94,799,306 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604066,562,853 - 66,607,102 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cep43
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478512,317,316 - 12,354,123 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478512,313,514 - 12,354,165 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CEP43
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212] Chr6:160328288..170612001 [GRCh38]
Chr6:160749320..170921089 [GRCh37]
Chr6:160669310..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|See cases [RCV000052214] Chr6:160422761..170612001 [GRCh38]
Chr6:160843793..170921089 [GRCh37]
Chr6:160763783..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 copy number loss See cases [RCV000052215] Chr6:161205328..170581161 [GRCh38]
Chr6:161626360..170890249 [GRCh37]
Chr6:161546350..170732174 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 copy number loss See cases [RCV000052223] Chr6:162042846..170608818 [GRCh38]
Chr6:162463878..170917906 [GRCh37]
Chr6:162383868..170759831 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 copy number loss See cases [RCV000052224] Chr6:162789915..170602152 [GRCh38]
Chr6:163210947..170911240 [GRCh37]
Chr6:163130937..170753165 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 copy number loss See cases [RCV000052225] Chr6:163420224..170608818 [GRCh38]
Chr6:163841256..170917906 [GRCh37]
Chr6:163761246..170759831 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q27(chr6:165126489-170581161)x1 copy number loss See cases [RCV000052226] Chr6:165126489..170581161 [GRCh38]
Chr6:165539978..170890249 [GRCh37]
Chr6:165459968..170732174 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:166370159-170602152)x1 copy number loss See cases [RCV000052227] Chr6:166370159..170602152 [GRCh38]
Chr6:166783647..170911240 [GRCh37]
Chr6:166703637..170753165 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:166907168-167368489)x3 copy number gain See cases [RCV000053393] Chr6:166907168..167368489 [GRCh38]
Chr6:167320656..167781977 [GRCh37]
Chr6:167240646..167701967 [NCBI36]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3 copy number gain See cases [RCV000184080] Chr6:162865436..170901287 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 copy number loss See cases [RCV000134021] Chr6:160484810..170612011 [GRCh38]
Chr6:160905842..170921099 [GRCh37]
Chr6:160825832..170763024 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q27(chr6:164790270-170612001)x1 copy number loss See cases [RCV000135415] Chr6:164790270..170612001 [GRCh38]
Chr6:165203779..170921089 [GRCh37]
Chr6:165123769..170763014 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 copy number loss See cases [RCV000143619] Chr6:160899898..170610394 [GRCh38]
Chr6:161320930..170919482 [GRCh37]
Chr6:161240920..170761407 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:167412952-167447412)x3 copy number gain Breast ductal adenocarcinoma [RCV000207260] Chr6:167412952..167447412 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:165443824-170892302)x1 copy number loss See cases [RCV000239993] Chr6:165443824..170892302 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:162381975-170919482)x1 copy number loss See cases [RCV000449121] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:167194654-167416922)x1 copy number loss See cases [RCV000445795] Chr6:167194654..167416922 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q26-27(chr6:164361517-170919482)x1 copy number loss See cases [RCV000446024] Chr6:164361517..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q27(chr6:166110423-170919482)x1 copy number loss See cases [RCV000510607] Chr6:166110423..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1 copy number loss See cases [RCV000511755] Chr6:164276935..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
Single allele deletion not provided [RCV000768451] Chr6:162966301..170914973 [GRCh37]
Chr6:6q26-27
likely pathogenic
NM_007045.4(CEP43):c.704T>C (p.Leu235Ser) single nucleotide variant Inborn genetic diseases [RCV003281997] Chr6:167022533 [GRCh38]
Chr6:167436021 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q27(chr6:167388817-170919482)x1 copy number loss not provided [RCV000682747] Chr6:167388817..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:165190527-170919482)x1 copy number loss not provided [RCV000682744] Chr6:165190527..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:167167381-167433823)x1 copy number loss not provided [RCV000682746] Chr6:167167381..167433823 [GRCh37]
Chr6:6q27
uncertain significance
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q27(chr6:165989942-171054786)x1 copy number loss not provided [RCV000746208] Chr6:165989942..171054786 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3 copy number gain not provided [RCV003312672] Chr6:159006336..170713678 [GRCh37]
Chr6:6q25.3-27
uncertain significance
GRCh37/hg19 6q27(chr6:166517762-170919470) copy number loss not provided [RCV000767664] Chr6:166517762..170919470 [GRCh37]
Chr6:6q27
pathogenic
NM_007045.4(CEP43):c.829G>C (p.Ala277Pro) single nucleotide variant not provided [RCV000968880] Chr6:167024804 [GRCh38]
Chr6:167438292 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1 copy number loss not provided [RCV001005878] Chr6:162661108..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:166607593-170919482)x1 copy number loss not provided [RCV000846415] Chr6:166607593..170919482 [GRCh37]
Chr6:6q27
pathogenic
NC_000006.11:g.(?_167343076)_(167453466_?)del deletion not provided [RCV003107732] Chr6:167343076..167453466 [GRCh37]
Chr6:6q27
pathogenic
NM_007045.4(CEP43):c.979C>G (p.Leu327Val) single nucleotide variant Inborn genetic diseases [RCV003275078] Chr6:167026606 [GRCh38]
Chr6:167440094 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 copy number loss not provided [RCV001005874] Chr6:162452035..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:167440417-170919482)x1 copy number loss not provided [RCV001005882] Chr6:167440417..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:166083476-170919482)x3 copy number gain not provided [RCV001258773] Chr6:166083476..170919482 [GRCh37]
Chr6:6q27
likely pathogenic
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482) copy number loss Hydrocephalus [RCV002280751] Chr6:159121459..170919482 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q26-27(chr6:162212864-170919482) copy number gain not specified [RCV002053652] Chr6:162212864..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:167263995-167774832)x3 copy number gain not provided [RCV001834343] Chr6:167263995..167774832 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q26-27(chr6:162381975-170919482) copy number loss not specified [RCV002053653] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:167317903-170919482) copy number loss not specified [RCV002053659] Chr6:167317903..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:163290087-170919482) copy number loss not specified [RCV002053655] Chr6:163290087..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q26-27(chr6:161047873-170919482) copy number loss not specified [RCV002053651] Chr6:161047873..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1 copy number loss not provided [RCV002293168] Chr6:163836226..170893669 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1 copy number loss not provided [RCV002472604] Chr6:163181847..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
NM_007045.4(CEP43):c.881G>T (p.Ser294Ile) single nucleotide variant Inborn genetic diseases [RCV003195921] Chr6:167024856 [GRCh38]
Chr6:167438344 [GRCh37]
Chr6:6q27
uncertain significance
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1 copy number loss Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003327715] Chr6:161349282..170584790 [GRCh38]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1 copy number loss not provided [RCV003334287] Chr6:160952761..170892276 [GRCh37]
Chr6:6q25.3-27
pathogenic
NM_007045.4(CEP43):c.745G>A (p.Asp249Asn) single nucleotide variant Inborn genetic diseases [RCV003357157] Chr6:167022574 [GRCh38]
Chr6:167436062 [GRCh37]
Chr6:6q27
uncertain significance
NM_007045.4(CEP43):c.163A>T (p.Thr55Ser) single nucleotide variant Inborn genetic diseases [RCV003344233] Chr6:167003199 [GRCh38]
Chr6:167416687 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:167047570-167576975)x3 copy number gain not provided [RCV003484659] Chr6:167047570..167576975 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:167091844-170919482)x1 copy number loss not provided [RCV003482936] Chr6:167091844..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1 copy number loss not specified [RCV003986639] Chr6:162079329..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:167165318-167433823)x1 copy number loss not specified [RCV003986614] Chr6:167165318..167433823 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1 copy number loss not provided [RCV003885515] Chr6:162124972..170893669 [GRCh37]
Chr6:6q26-27
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5476
Count of miRNA genes:1361
Interacting mature miRNAs:1790
Transcripts:ENST00000349556, ENST00000366847, ENST00000476078, ENST00000488525, ENST00000494781, ENST00000496181
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
STS-N39149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376167,453,547 - 167,453,760UniSTSGRCh37
Build 366167,373,537 - 167,373,750RGDNCBI36
Celera6168,195,876 - 168,196,089RGD
Cytogenetic Map6q27UniSTS
HuRef6164,927,736 - 164,927,949UniSTS
GeneMap99-GB4 RH Map6636.79UniSTS
NCBI RH Map61672.4UniSTS
SHGC-77766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376167,433,062 - 167,433,349UniSTSGRCh37
Build 366167,353,052 - 167,353,339RGDNCBI36
Celera6168,175,402 - 168,175,689RGD
Cytogenetic Map6q27UniSTS
HuRef6164,907,266 - 164,907,553UniSTS
TNG Radiation Hybrid Map683936.0UniSTS
RH102124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376167,453,724 - 167,453,867UniSTSGRCh37
Build 366167,373,714 - 167,373,857RGDNCBI36
Celera6168,196,053 - 168,196,196RGD
Cytogenetic Map6q27UniSTS
HuRef6164,927,913 - 164,928,056UniSTS
GeneMap99-GB4 RH Map6630.13UniSTS
FGFR1OP_7994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376167,453,403 - 167,454,037UniSTSGRCh37
Build 366167,373,393 - 167,374,027RGDNCBI36
Celera6168,195,731 - 168,196,366RGD
HuRef6164,927,591 - 164,928,226UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 8 1 88 7 49 7 11 3 35 31 435 100 3
Low 2424 2757 1636 615 1743 457 4332 2109 3625 385 1014 1508 171 1204 2773 4
Below cutoff 227 2 157 13 82 72 3 7 2 2 1 12

Sequence


RefSeq Acc Id: ENST00000349556   ⟹   ENSP00000230248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,174 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000366847   ⟹   ENSP00000355812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,397 - 167,052,718 (+)Ensembl
RefSeq Acc Id: ENST00000476078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,621 - 167,004,304 (+)Ensembl
RefSeq Acc Id: ENST00000488525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,397 - 167,042,396 (+)Ensembl
RefSeq Acc Id: ENST00000494781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,457 - 167,011,691 (+)Ensembl
RefSeq Acc Id: ENST00000496181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6167,022,426 - 167,025,211 (+)Ensembl
RefSeq Acc Id: ENST00000622353   ⟹   ENSP00000479115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,317 - 167,042,418 (+)Ensembl
RefSeq Acc Id: ENST00000646989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6167,040,299 - 167,094,789 (+)Ensembl
RefSeq Acc Id: ENST00000704900   ⟹   ENSP00000516059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,337 - 167,039,978 (+)Ensembl
RefSeq Acc Id: ENST00000704901   ⟹   ENSP00000516060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,312 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000704918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,608 - 167,004,401 (+)Ensembl
RefSeq Acc Id: ENST00000704959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,630 - 167,040,317 (+)Ensembl
RefSeq Acc Id: ENST00000704960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6167,031,726 - 167,042,404 (+)Ensembl
RefSeq Acc Id: ENST00000704962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,174 - 167,006,500 (+)Ensembl
RefSeq Acc Id: ENST00000704982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,174 - 167,042,401 (+)Ensembl
RefSeq Acc Id: ENST00000704983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,363 - 167,013,785 (+)Ensembl
RefSeq Acc Id: ENST00000704985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,174 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000704986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,174 - 167,042,406 (+)Ensembl
RefSeq Acc Id: ENST00000705029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6167,023,145 - 167,042,401 (+)Ensembl
RefSeq Acc Id: ENST00000705058   ⟹   ENSP00000516068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,402 - 167,014,739 (+)Ensembl
RefSeq Acc Id: ENST00000705059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6167,009,716 - 167,042,385 (+)Ensembl
RefSeq Acc Id: ENST00000705110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6167,003,756 - 167,014,259 (+)Ensembl
RefSeq Acc Id: ENST00000705168   ⟹   ENSP00000516071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6167,020,790 - 167,040,578 (+)Ensembl
RefSeq Acc Id: ENST00000705169   ⟹   ENSP00000516072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6167,021,115 - 167,042,385 (+)Ensembl
RefSeq Acc Id: ENST00000705170   ⟹   ENSP00000516073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6167,021,272 - 167,040,317 (+)Ensembl
RefSeq Acc Id: ENST00000705171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,308 - 167,042,385 (+)Ensembl
RefSeq Acc Id: ENST00000705172   ⟹   ENSP00000516074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,397 - 167,014,616 (+)Ensembl
RefSeq Acc Id: ENST00000705173   ⟹   ENSP00000516075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,397 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000705175   ⟹   ENSP00000516077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,402 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000705176   ⟹   ENSP00000516078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,402 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000705177   ⟹   ENSP00000516079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,379 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000705178   ⟹   ENSP00000516080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,308 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000705179   ⟹   ENSP00000516081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,402 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000705180   ⟹   ENSP00000516082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,209 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000705235   ⟹   ENSP00000516093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,353 - 167,042,406 (+)Ensembl
RefSeq Acc Id: ENST00000705236   ⟹   ENSP00000516094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,363 - 167,042,406 (+)Ensembl
RefSeq Acc Id: ENST00000705237   ⟹   ENSP00000516095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,379 - 167,042,406 (+)Ensembl
RefSeq Acc Id: ENST00000705238   ⟹   ENSP00000516096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,384 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000705239   ⟹   ENSP00000516097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,397 - 167,042,401 (+)Ensembl
RefSeq Acc Id: ENST00000705240   ⟹   ENSP00000516098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,397 - 167,042,405 (+)Ensembl
RefSeq Acc Id: ENST00000705241   ⟹   ENSP00000516099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,402 - 167,042,401 (+)Ensembl
RefSeq Acc Id: ENST00000705242   ⟹   ENSP00000516100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,999,402 - 167,042,405 (+)Ensembl
RefSeq Acc Id: NM_001278690   ⟹   NP_001265619
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,999,397 - 167,042,418 (+)NCBI
HuRef6164,887,018 - 164,930,106 (+)NCBI
CHM1_16167,675,345 - 167,718,325 (+)NCBI
T2T-CHM13v2.06168,383,647 - 168,426,646 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007045   ⟹   NP_008976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,999,397 - 167,052,718 (+)NCBI
GRCh376167,412,805 - 167,458,064 (+)NCBI
Build 366167,332,806 - 167,374,056 (+)NCBI Archive
HuRef6164,887,018 - 164,930,106 (+)NCBI
CHM1_16167,675,345 - 167,718,325 (+)NCBI
T2T-CHM13v2.06168,383,647 - 168,436,936 (+)NCBI
Sequence:
RefSeq Acc Id: NM_194429   ⟹   NP_919410
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,999,397 - 167,052,718 (+)NCBI
GRCh376167,412,805 - 167,458,064 (+)NCBI
Build 366167,332,806 - 167,374,056 (+)NCBI Archive
HuRef6164,887,018 - 164,930,106 (+)NCBI
CHM1_16167,675,345 - 167,718,325 (+)NCBI
T2T-CHM13v2.06168,383,647 - 168,436,936 (+)NCBI
Sequence:
RefSeq Acc Id: NP_008976   ⟸   NM_007045
- Peptide Label: isoform a
- UniProtKB: Q5R3F6 (UniProtKB/Swiss-Prot),   Q49AI0 (UniProtKB/Swiss-Prot),   B2R705 (UniProtKB/Swiss-Prot),   A8K1D1 (UniProtKB/Swiss-Prot),   Q96EW1 (UniProtKB/Swiss-Prot),   O95684 (UniProtKB/Swiss-Prot),   A0A994J518 (UniProtKB/TrEMBL),   A0A994J7D3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_919410   ⟸   NM_194429
- Peptide Label: isoform b
- UniProtKB: A0A994J518 (UniProtKB/TrEMBL),   A0A994J7D3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265619   ⟸   NM_001278690
- Peptide Label: isoform c
- UniProtKB: A0A087WV25 (UniProtKB/TrEMBL),   B4DH64 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000479115   ⟸   ENST00000622353
RefSeq Acc Id: ENSP00000230248   ⟸   ENST00000349556
RefSeq Acc Id: ENSP00000355812   ⟸   ENST00000366847
RefSeq Acc Id: ENSP00000516068   ⟸   ENST00000705058
RefSeq Acc Id: ENSP00000516096   ⟸   ENST00000705238
RefSeq Acc Id: ENSP00000516080   ⟸   ENST00000705178
RefSeq Acc Id: ENSP00000516093   ⟸   ENST00000705235
RefSeq Acc Id: ENSP00000516081   ⟸   ENST00000705179
RefSeq Acc Id: ENSP00000516078   ⟸   ENST00000705176
RefSeq Acc Id: ENSP00000516094   ⟸   ENST00000705236
RefSeq Acc Id: ENSP00000516100   ⟸   ENST00000705242
RefSeq Acc Id: ENSP00000516082   ⟸   ENST00000705180
RefSeq Acc Id: ENSP00000516095   ⟸   ENST00000705237
RefSeq Acc Id: ENSP00000516059   ⟸   ENST00000704900
RefSeq Acc Id: ENSP00000516077   ⟸   ENST00000705175
RefSeq Acc Id: ENSP00000516099   ⟸   ENST00000705241
RefSeq Acc Id: ENSP00000516072   ⟸   ENST00000705169
RefSeq Acc Id: ENSP00000516097   ⟸   ENST00000705239
RefSeq Acc Id: ENSP00000516075   ⟸   ENST00000705173
RefSeq Acc Id: ENSP00000516098   ⟸   ENST00000705240
RefSeq Acc Id: ENSP00000516074   ⟸   ENST00000705172
RefSeq Acc Id: ENSP00000516071   ⟸   ENST00000705168
RefSeq Acc Id: ENSP00000516060   ⟸   ENST00000704901
RefSeq Acc Id: ENSP00000516073   ⟸   ENST00000705170
RefSeq Acc Id: ENSP00000516079   ⟸   ENST00000705177
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95684-F1-model_v2 AlphaFold O95684 1-399 view protein structure

Promoters
RGD ID:7209657
Promoter ID:EPDNEW_H10574
Type:initiation region
Name:FGFR1OP_1
Description:FGFR1 oncogene partner
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,999,397 - 166,999,457EPDNEW
RGD ID:6803899
Promoter ID:HG_KWN:55769
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_194429,   OTTHUMT00000043099,   OTTHUMT00000043101,   OTTHUMT00000043102,   UC003QVL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366167,331,686 - 167,332,997 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17012 AgrOrtholog
COSMIC CEP43 COSMIC
Ensembl Genes ENSG00000213066 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000272980 UniProtKB/TrEMBL
Ensembl Transcript ENST00000349556 ENTREZGENE
  ENST00000349556.5 UniProtKB/Swiss-Prot
  ENST00000366847 ENTREZGENE
  ENST00000366847.9 UniProtKB/Swiss-Prot
  ENST00000488525.2 UniProtKB/TrEMBL
  ENST00000622353 ENTREZGENE
  ENST00000622353.4 UniProtKB/TrEMBL
  ENST00000704900.1 UniProtKB/TrEMBL
  ENST00000704901.1 UniProtKB/TrEMBL
  ENST00000705058.1 UniProtKB/TrEMBL
  ENST00000705168.1 UniProtKB/TrEMBL
  ENST00000705169.1 UniProtKB/TrEMBL
  ENST00000705170.1 UniProtKB/Swiss-Prot
  ENST00000705172.1 UniProtKB/TrEMBL
  ENST00000705173.1 UniProtKB/TrEMBL
  ENST00000705175.1 UniProtKB/TrEMBL
  ENST00000705176.1 UniProtKB/TrEMBL
  ENST00000705177.1 UniProtKB/TrEMBL
  ENST00000705178.1 UniProtKB/TrEMBL
  ENST00000705179.1 UniProtKB/TrEMBL
  ENST00000705180.1 UniProtKB/TrEMBL
  ENST00000705235.1 UniProtKB/TrEMBL
  ENST00000705236.1 UniProtKB/TrEMBL
  ENST00000705237.1 UniProtKB/TrEMBL
  ENST00000705238.1 UniProtKB/TrEMBL
  ENST00000705239.1 UniProtKB/TrEMBL
  ENST00000705240.1 UniProtKB/TrEMBL
  ENST00000705241.1 UniProtKB/TrEMBL
  ENST00000705242.1 UniProtKB/TrEMBL
  ENST00000705251.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.960.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000213066 GTEx
  ENSG00000272980 GTEx
HGNC ID HGNC:17012 ENTREZGENE
Human Proteome Map CEP43 Human Proteome Map
InterPro FOP_dimerisation-dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11116 UniProtKB/Swiss-Prot
NCBI Gene 11116 ENTREZGENE
OMIM 605392 OMIM
PANTHER CENTROSOMAL PROTEIN 43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FGFR1 ONCOGENE PARTNER/LISH DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FOP_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134941638 PharmGKB
PROSITE LISH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WV25 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J4R0_HUMAN UniProtKB/TrEMBL
  A0A994J4R8_HUMAN UniProtKB/TrEMBL
  A0A994J4T6_HUMAN UniProtKB/TrEMBL
  A0A994J4U0_HUMAN UniProtKB/TrEMBL
  A0A994J500_HUMAN UniProtKB/TrEMBL
  A0A994J505_HUMAN UniProtKB/TrEMBL
  A0A994J518 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J5D2_HUMAN UniProtKB/TrEMBL
  A0A994J5E9_HUMAN UniProtKB/TrEMBL
  A0A994J5F4_HUMAN UniProtKB/TrEMBL
  A0A994J5F6_HUMAN UniProtKB/TrEMBL
  A0A994J5H0_HUMAN UniProtKB/TrEMBL
  A0A994J7B5_HUMAN UniProtKB/TrEMBL
  A0A994J7B9_HUMAN UniProtKB/TrEMBL
  A0A994J7C9_HUMAN UniProtKB/TrEMBL
  A0A994J7D3 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J7Q3_HUMAN UniProtKB/TrEMBL
  A0A994J7Q7_HUMAN UniProtKB/TrEMBL
  A0A994J7R7_HUMAN UniProtKB/TrEMBL
  A0A994J7S1_HUMAN UniProtKB/TrEMBL
  A0A994J7S5_HUMAN UniProtKB/TrEMBL
  A8K1D1 ENTREZGENE
  B2R705 ENTREZGENE
  B4DH64 ENTREZGENE, UniProtKB/TrEMBL
  FR1OP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q49AI0 ENTREZGENE
  Q5R3F6 ENTREZGENE
  Q96EW1 ENTREZGENE
UniProt Secondary A8K1D1 UniProtKB/Swiss-Prot
  B2R705 UniProtKB/Swiss-Prot
  Q49AI0 UniProtKB/Swiss-Prot
  Q5R3F6 UniProtKB/Swiss-Prot
  Q96EW1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-01-14 CEP43  centrosomal protein 43  FGFR1OP  FGFR1 oncogene partner  Symbol and/or name change 5135510 APPROVED