CPSF1 (cleavage and polyadenylation specific factor 1) - Rat Genome Database

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Gene: CPSF1 (cleavage and polyadenylation specific factor 1) Homo sapiens
Analyze
Symbol: CPSF1
Name: cleavage and polyadenylation specific factor 1
RGD ID: 1315001
HGNC Page HGNC:2324
Description: Enables enzyme binding activity and mRNA 3'-UTR AU-rich region binding activity. Predicted to be involved in co-transcriptional RNA 3'-end processing, cleavage and polyadenylation pathway. Located in nucleoplasm. Part of mRNA cleavage and polyadenylation specificity factor complex. Implicated in myopia.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cleavage and polyadenylation specific factor 1, 160kDa; cleavage and polyadenylation specificity factor 160 kDa subunit; cleavage and polyadenylation specificity factor subunit 1; CPSF 160 kDa subunit; CPSF160; HSU37012; MYP27; P/cl.18; polyadenylation specificity factor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CPSF1P1   CPSF1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,393,231 - 144,409,335 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,393,229 - 144,409,335 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,618,446 - 145,634,719 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,589,254 - 145,605,541 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,589,253 - 145,605,541NCBI
Celera8141,792,905 - 141,809,167 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,731,448 - 140,747,966 (-)NCBIHuRef
CHM1_18145,656,550 - 145,673,024 (-)NCBICHM1_1
T2T-CHM13v2.08145,562,868 - 145,579,148 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Pre-mRNA 3'-end processing complex assembly and function. Chan S, etal., Wiley Interdiscip Rev RNA. 2011 May-Jun;2(3):321-35. doi: 10.1002/wrna.54. Epub 2010 Oct 18.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Means to an end: mechanisms of alternative polyadenylation of messenger RNA precursors. Gruber AR, etal., Wiley Interdiscip Rev RNA. 2014 Mar-Apr;5(2):183-96. doi: 10.1002/wrna.1206. Epub 2013 Nov 14.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1756731   PMID:7590244   PMID:7651824   PMID:8302877   PMID:8654386   PMID:9002523   PMID:9311784   PMID:10669729   PMID:11060040   PMID:11124521   PMID:11739730   PMID:11992410  
PMID:12226669   PMID:12392551   PMID:12477932   PMID:14667819   PMID:14749727   PMID:15302935   PMID:15489334   PMID:16055720   PMID:17289029   PMID:18173839   PMID:19136632   PMID:19224921  
PMID:20020773   PMID:20467437   PMID:21102410   PMID:21145461   PMID:21549307   PMID:21822216   PMID:21873635   PMID:22586326   PMID:22658674   PMID:22939629   PMID:23125841   PMID:23151878  
PMID:23602568   PMID:23752268   PMID:24332808   PMID:24457600   PMID:24550385   PMID:24639526   PMID:24711643   PMID:24981860   PMID:25201988   PMID:25319826   PMID:25416956   PMID:25798074  
PMID:25921289   PMID:26344197   PMID:26354767   PMID:26496610   PMID:27320910   PMID:27609421   PMID:27684187   PMID:27880917   PMID:28380382   PMID:28431233   PMID:28514442   PMID:28700943  
PMID:28973437   PMID:29274231   PMID:29298432   PMID:29358555   PMID:29358758   PMID:29395067   PMID:29467281   PMID:29467282   PMID:29509190   PMID:29511261   PMID:29564676   PMID:29676528  
PMID:29802200   PMID:30021884   PMID:30689892   PMID:30804502   PMID:30884312   PMID:30890647   PMID:30948266   PMID:31042468   PMID:31048545   PMID:31076518   PMID:31091453   PMID:31180492  
PMID:31553912   PMID:31586073   PMID:32203420   PMID:32296183   PMID:32416067   PMID:32694731   PMID:32707033   PMID:32780723   PMID:32807901   PMID:32877691   PMID:33306668   PMID:33462405  
PMID:33469008   PMID:33742100   PMID:33863777   PMID:33961781   PMID:34349018   PMID:34728620   PMID:35013218   PMID:35032548   PMID:35140242   PMID:35256949   PMID:35271311   PMID:35402071  
PMID:35439318   PMID:35545047   PMID:35583604   PMID:35696571   PMID:35748872   PMID:35785414   PMID:35831314   PMID:35850772   PMID:35906200   PMID:35941108   PMID:35944360   PMID:36114006  
PMID:36215168   PMID:36244648   PMID:36526897   PMID:36537216   PMID:36538041   PMID:36574265   PMID:36774506   PMID:37040401   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37689310  
PMID:37827155   PMID:38113892   PMID:38270169   PMID:38334954   PMID:38697112   PMID:38803224   PMID:39147351  


Genomics

Comparative Map Data
CPSF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,393,231 - 144,409,335 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,393,229 - 144,409,335 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,618,446 - 145,634,719 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,589,254 - 145,605,541 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,589,253 - 145,605,541NCBI
Celera8141,792,905 - 141,809,167 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,731,448 - 140,747,966 (-)NCBIHuRef
CHM1_18145,656,550 - 145,673,024 (-)NCBICHM1_1
T2T-CHM13v2.08145,562,868 - 145,579,148 (-)NCBIT2T-CHM13v2.0
Cpsf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,480,008 - 76,491,861 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,480,003 - 76,491,791 (-)EnsemblGRCm39 Ensembl
GRCm381576,595,808 - 76,607,661 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,595,803 - 76,607,591 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,426,238 - 76,438,021 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,423,063 - 76,434,809 (-)NCBIMGSCv36mm8
Celera1578,089,201 - 78,101,206 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.13NCBI
Cpsf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87110,200,078 - 110,210,644 (-)NCBIGRCr8
mRatBN7.27108,319,429 - 108,330,018 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,319,434 - 108,329,934 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7110,061,260 - 110,071,841 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,284,973 - 112,295,415 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07112,245,683 - 112,256,252 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,661,779 - 117,672,373 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,661,661 - 117,672,373 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,649,863 - 117,660,456 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,647,975 - 114,658,568 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17114,682,284 - 114,692,737 (-)NCBI
Celera7104,669,635 - 104,680,226 (-)NCBICelera
Cytogenetic Map7q34NCBI
Cpsf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,024,406 - 3,039,425 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,024,324 - 3,039,004 (-)NCBIChiLan1.0ChiLan1.0
CPSF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27161,882,889 - 161,900,722 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18137,411,908 - 137,429,795 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08141,158,494 - 141,176,354 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18144,149,253 - 144,166,183 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,148,075 - 144,166,043 (-)Ensemblpanpan1.1panPan2
CPSF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,817,440 - 37,827,868 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,817,442 - 37,825,212 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,780,111 - 37,793,256 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,293,061 - 38,306,204 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,293,061 - 38,306,328 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11337,984,868 - 37,998,022 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,093,511 - 38,106,668 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,569,886 - 38,583,035 (-)NCBIUU_Cfam_GSD_1.0
Cpsf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303419,543 - 431,194 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364707,849,329 - 7,857,214 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364707,848,846 - 7,857,291 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPSF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14382,887 - 393,732 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24473,501 - 482,157 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CPSF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,602,549 - 138,618,802 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,602,835 - 138,617,071 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660391,238,282 - 1,255,392 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cpsf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473512,444,386 - 12,457,864 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473512,444,371 - 12,457,864 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CPSF1
106 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3 copy number gain See cases [RCV000052189] Chr8:144392063..144458958 [GRCh38]
Chr8:145617263..145684341 [GRCh37]
Chr8:145588071..145655149 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
NM_013291.2(CPSF1):c.3767A>G (p.Tyr1256Cys) single nucleotide variant Malignant melanoma [RCV000061767] Chr8:144394278 [GRCh38]
Chr8:145619493 [GRCh37]
Chr8:145590301 [NCBI36]
Chr8:8q24.3
not provided
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_013291.3(CPSF1):c.2839G>A (p.Gly947Ser) single nucleotide variant not specified [RCV004303190] Chr8:144396488 [GRCh38]
Chr8:145621703 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3349C>A (p.Leu1117Ile) single nucleotide variant not specified [RCV004319212] Chr8:144394947 [GRCh38]
Chr8:145620162 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3663C>G (p.Phe1221Leu) single nucleotide variant not specified [RCV004321971] Chr8:144394460 [GRCh38]
Chr8:145619675 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.959T>A (p.Ile320Asn) single nucleotide variant not specified [RCV004291210] Chr8:144400064 [GRCh38]
Chr8:145625454 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2869G>C (p.Gly957Arg) single nucleotide variant not specified [RCV004320782] Chr8:144396458 [GRCh38]
Chr8:145621673 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
NM_013291.3(CPSF1):c.430G>T (p.Asp144Tyr) single nucleotide variant not specified [RCV004306922] Chr8:144401033 [GRCh38]
Chr8:145626427 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634413-145753161)x3 copy number gain not provided [RCV000748021] Chr8:145634413..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634556-145772939)x3 copy number gain not provided [RCV000748022] Chr8:145634556..145772939 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
NM_013291.3(CPSF1):c.1603_1604del (p.Met535fs) deletion not provided [RCV001038883] Chr8:144398813..144398814 [GRCh38]
Chr8:145624203..145624204 [GRCh37]
Chr8:8q24.3
pathogenic
NM_013291.3(CPSF1):c.2843C>T (p.Pro948Leu) single nucleotide variant not specified [RCV004288315] Chr8:144396484 [GRCh38]
Chr8:145621699 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145603133-145695493)x3 copy number gain not provided [RCV000846119] Chr8:145603133..145695493 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2823_2824del (p.Val943fs) deletion Myopia 27 [RCV001029439]|not provided [RCV001382048] Chr8:144396600..144396601 [GRCh38]
Chr8:145621815..145621816 [GRCh37]
Chr8:8q24.3
pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_013291.3(CPSF1):c.3910G>T (p.Val1304Leu) single nucleotide variant not specified [RCV004293259] Chr8:144393988 [GRCh38]
Chr8:145619203 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_013291.3(CPSF1):c.1962C>T (p.Pro654=) single nucleotide variant not provided [RCV001171998] Chr8:144398065 [GRCh38]
Chr8:145623280 [GRCh37]
Chr8:8q24.3
likely benign
NM_013291.3(CPSF1):c.4146-2A>G single nucleotide variant Myopia 27 [RCV001029433] Chr8:144393592 [GRCh38]
Chr8:145618807 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_013291.3(CPSF1):c.3823G>T (p.Asp1275Tyr) single nucleotide variant Myopia 27 [RCV001029435] Chr8:144394149 [GRCh38]
Chr8:145619364 [GRCh37]
Chr8:8q24.3
pathogenic
NM_013291.3(CPSF1):c.1858C>T (p.Gln620Ter) single nucleotide variant Myopia 27 [RCV001029437] Chr8:144398338 [GRCh38]
Chr8:145623728 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.917G>T (p.Gly306Val) single nucleotide variant not specified [RCV004611100] Chr8:144400186 [GRCh38]
Chr8:145625580 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2524dup (p.Glu842fs) duplication not provided [RCV001388283] Chr8:144397274..144397275 [GRCh38]
Chr8:145622489..145622490 [GRCh37]
Chr8:8q24.3
pathogenic
NM_013291.3(CPSF1):c.2171_2177del (p.Arg724fs) deletion not provided [RCV001730449] Chr8:144397776..144397782 [GRCh38]
Chr8:145622991..145622997 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2163_2164del (p.Gly723fs) deletion not provided [RCV001730453] Chr8:144397789..144397790 [GRCh38]
Chr8:145623004..145623005 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_013291.3(CPSF1):c.2058G>T (p.Lys686Asn) single nucleotide variant not provided [RCV001796942] Chr8:144397969 [GRCh38]
Chr8:145623184 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3
uncertain significance|no classifications from unflagged records
NC_000008.10:g.(?_144295143)_(145701139_?)del deletion Brown-Vialetto-van Laere syndrome 2 [RCV001939634]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001962911] Chr8:144295143..145701139 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_013291.3(CPSF1):c.1628G>A (p.Arg543His) single nucleotide variant not specified [RCV004096491] Chr8:144398789 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3146G>A (p.Arg1049His) single nucleotide variant not specified [RCV004159023] Chr8:144395306 [GRCh38]
Chr8:145620521 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.329C>A (p.Pro110Gln) single nucleotide variant not specified [RCV004159151] Chr8:144401269 [GRCh38]
Chr8:145626663 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2365C>T (p.Arg789Trp) single nucleotide variant not specified [RCV004202936] Chr8:144397507 [GRCh38]
Chr8:145622722 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2569C>T (p.Arg857Cys) single nucleotide variant not specified [RCV004183218] Chr8:144397230 [GRCh38]
Chr8:145622445 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1622C>T (p.Pro541Leu) single nucleotide variant not specified [RCV004128500] Chr8:144398795 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3216G>C (p.Glu1072Asp) single nucleotide variant not specified [RCV004147629] Chr8:144395154 [GRCh38]
Chr8:145620369 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2082G>C (p.Lys694Asn) single nucleotide variant not specified [RCV004083310] Chr8:144397871 [GRCh38]
Chr8:145623086 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2249A>G (p.Asp750Gly) single nucleotide variant not specified [RCV004198191] Chr8:144397623 [GRCh38]
Chr8:145622838 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2513C>T (p.Thr838Met) single nucleotide variant not specified [RCV004184611] Chr8:144397286 [GRCh38]
Chr8:145622501 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1169A>G (p.Asn390Ser) single nucleotide variant not specified [RCV004183310] Chr8:144399661 [GRCh38]
Chr8:145625051 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1627C>T (p.Arg543Cys) single nucleotide variant not specified [RCV004234945] Chr8:144398790 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1642G>A (p.Asp548Asn) single nucleotide variant not specified [RCV004114881] Chr8:144398635 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3062C>T (p.Thr1021Met) single nucleotide variant not specified [RCV004195130] Chr8:144395469 [GRCh38]
Chr8:145620684 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2116G>A (p.Gly706Ser) single nucleotide variant not specified [RCV004243022] Chr8:144397837 [GRCh38]
Chr8:145623052 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2137C>T (p.Arg713Cys) single nucleotide variant not specified [RCV004234231] Chr8:144397816 [GRCh38]
Chr8:145623031 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2516G>A (p.Arg839His) single nucleotide variant not specified [RCV004154443] Chr8:144397283 [GRCh38]
Chr8:145622498 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.140C>T (p.Ala47Val) single nucleotide variant not specified [RCV004103781] Chr8:144409019 [GRCh38]
Chr8:145634403 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2260C>T (p.Leu754Phe) single nucleotide variant not specified [RCV004225745] Chr8:144397612 [GRCh38]
Chr8:145622827 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3674C>T (p.Ala1225Val) single nucleotide variant not specified [RCV004132873] Chr8:144394449 [GRCh38]
Chr8:145619664 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1253C>T (p.Pro418Leu) single nucleotide variant not specified [RCV004240174] Chr8:144399493 [GRCh38]
Chr8:145624883 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2954G>A (p.Arg985His) single nucleotide variant not specified [RCV004246550] Chr8:144396373 [GRCh38]
Chr8:145621588 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2320C>T (p.Pro774Ser) single nucleotide variant not specified [RCV004159857] Chr8:144397552 [GRCh38]
Chr8:145622767 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1801G>A (p.Ala601Thr) single nucleotide variant not specified [RCV004246736] Chr8:144398395 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1598A>G (p.Tyr533Cys) single nucleotide variant not specified [RCV004213338] Chr8:144398819 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.4123G>A (p.Gly1375Ser) single nucleotide variant not specified [RCV004137450] Chr8:144393689 [GRCh38]
Chr8:145618904 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2704C>A (p.Arg902Ser) single nucleotide variant not specified [RCV004101413] Chr8:144396720 [GRCh38]
Chr8:145621935 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1217G>A (p.Ser406Asn) single nucleotide variant not specified [RCV004110971] Chr8:144399613 [GRCh38]
Chr8:145625003 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.602T>C (p.Leu201Pro) single nucleotide variant not specified [RCV004185448] Chr8:144400755 [GRCh38]
Chr8:145626149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2314C>T (p.Arg772Trp) single nucleotide variant not specified [RCV004072682] Chr8:144397558 [GRCh38]
Chr8:145622773 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1834A>G (p.Ile612Val) single nucleotide variant not specified [RCV004173062] Chr8:144398362 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.4307C>T (p.Thr1436Met) single nucleotide variant not specified [RCV004082897] Chr8:144393343 [GRCh38]
Chr8:145618558 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1150C>G (p.Leu384Val) single nucleotide variant not specified [RCV004132548] Chr8:144399680 [GRCh38]
Chr8:145625070 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2332C>T (p.Arg778Trp) single nucleotide variant not specified [RCV004157386] Chr8:144397540 [GRCh38]
Chr8:145622755 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1414A>G (p.Ile472Val) single nucleotide variant not specified [RCV004212404] Chr8:144399181 [GRCh38]
Chr8:145624571 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2414T>C (p.Val805Ala) single nucleotide variant not specified [RCV004220243] Chr8:144397385 [GRCh38]
Chr8:145622600 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2636A>G (p.His879Arg) single nucleotide variant not specified [RCV004216678] Chr8:144396886 [GRCh38]
Chr8:145622101 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1687C>T (p.Pro563Ser) single nucleotide variant not specified [RCV004103603] Chr8:144398590 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1307C>T (p.Ser436Leu) single nucleotide variant not specified [RCV004223164] Chr8:144399361 [GRCh38]
Chr8:145624751 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.91G>A (p.Val31Ile) single nucleotide variant not specified [RCV004264228] Chr8:144409068 [GRCh38]
Chr8:145634452 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.425G>A (p.Arg142Gln) single nucleotide variant not specified [RCV004285024] Chr8:144401038 [GRCh38]
Chr8:145626432 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2953C>T (p.Arg985Cys) single nucleotide variant not specified [RCV004250314] Chr8:144396374 [GRCh38]
Chr8:145621589 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2324C>T (p.Ala775Val) single nucleotide variant not specified [RCV004274567] Chr8:144397548 [GRCh38]
Chr8:145622763 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1211C>T (p.Pro404Leu) single nucleotide variant not specified [RCV004262619] Chr8:144399619 [GRCh38]
Chr8:145625009 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1976T>C (p.Met659Thr) single nucleotide variant not specified [RCV004261228] Chr8:144398051 [GRCh38]
Chr8:145623266 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2923T>C (p.Phe975Leu) single nucleotide variant not specified [RCV004269208] Chr8:144396404 [GRCh38]
Chr8:145621619 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.160G>T (p.Asp54Tyr) single nucleotide variant not specified [RCV004264997] Chr8:144401658 [GRCh38]
Chr8:145627052 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3910G>A (p.Val1304Met) single nucleotide variant not specified [RCV004271747] Chr8:144393988 [GRCh38]
Chr8:145619203 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3016T>C (p.Ser1006Pro) single nucleotide variant not specified [RCV004327876] Chr8:144395515 [GRCh38]
Chr8:145620730 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.4282A>G (p.Ile1428Val) single nucleotide variant not specified [RCV004340174] Chr8:144393454 [GRCh38]
Chr8:145618669 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2440G>C (p.Gly814Arg) single nucleotide variant not specified [RCV004354535] Chr8:144397359 [GRCh38]
Chr8:145622574 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.232G>A (p.Val78Ile) single nucleotide variant not specified [RCV004356320] Chr8:144401504 [GRCh38]
Chr8:145626898 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3712G>A (p.Glu1238Lys) single nucleotide variant not specified [RCV004344945] Chr8:144394411 [GRCh38]
Chr8:145619626 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3 copy number gain not provided [RCV003484758] Chr8:145080420..146258478 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.711G>C (p.Thr237=) single nucleotide variant not provided [RCV003435653] Chr8:144400469 [GRCh38]
Chr8:145625863 [GRCh37]
Chr8:8q24.3
likely benign
NM_013291.3(CPSF1):c.291C>T (p.Ser97=) single nucleotide variant not provided [RCV003435654] Chr8:144401445 [GRCh38]
Chr8:145626839 [GRCh37]
Chr8:8q24.3
likely benign
NM_013291.3(CPSF1):c.2025C>T (p.Tyr675=) single nucleotide variant not provided [RCV003423998] Chr8:144398002 [GRCh38]
Chr8:145623217 [GRCh37]
Chr8:8q24.3
likely benign
NM_013291.3(CPSF1):c.1119+2T>G single nucleotide variant CPSF1-related disorder [RCV003416932] Chr8:144399779 [GRCh38]
Chr8:145625169 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1120-5C>T single nucleotide variant Myopia 27 [RCV003492978] Chr8:144399715 [GRCh38]
Chr8:145625105 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1105G>A (p.Val369Ile) single nucleotide variant not specified [RCV004374629] Chr8:144399795 [GRCh38]
Chr8:145625185 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1646A>G (p.Asn549Ser) single nucleotide variant not specified [RCV004374632] Chr8:144398631 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1802C>A (p.Ala601Asp) single nucleotide variant not specified [RCV004374633] Chr8:144398394 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1984G>A (p.Glu662Lys) single nucleotide variant not specified [RCV004374634] Chr8:144398043 [GRCh38]
Chr8:145623258 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2032C>T (p.Arg678Cys) single nucleotide variant not specified [RCV004374635] Chr8:144397995 [GRCh38]
Chr8:145623210 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2226C>G (p.Asp742Glu) single nucleotide variant not specified [RCV004374638] Chr8:144397646 [GRCh38]
Chr8:145622861 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2726C>G (p.Ser909Cys) single nucleotide variant not specified [RCV004374642] Chr8:144396698 [GRCh38]
Chr8:145621913 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2773C>T (p.Arg925Trp) single nucleotide variant not specified [RCV004374643] Chr8:144396651 [GRCh38]
Chr8:145621866 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2868C>T (p.Thr956=) single nucleotide variant not specified [RCV004374644] Chr8:144396459 [GRCh38]
Chr8:145621674 [GRCh37]
Chr8:8q24.3
likely benign
NM_013291.3(CPSF1):c.3125C>T (p.Thr1042Met) single nucleotide variant not specified [RCV004374647] Chr8:144395327 [GRCh38]
Chr8:145620542 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3955G>A (p.Ala1319Thr) single nucleotide variant not provided [RCV004759376]|not specified [RCV004374649] Chr8:144393943 [GRCh38]
Chr8:145619158 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.472C>T (p.Arg158Trp) single nucleotide variant not specified [RCV004374655] Chr8:144400991 [GRCh38]
Chr8:145626385 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2063C>T (p.Pro688Leu) single nucleotide variant not specified [RCV004374636] Chr8:144397964 [GRCh38]
Chr8:145623179 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3652G>A (p.Val1218Ile) single nucleotide variant not specified [RCV004374648] Chr8:144394471 [GRCh38]
Chr8:145619686 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.4107G>A (p.Met1369Ile) single nucleotide variant not specified [RCV004374651] Chr8:144393705 [GRCh38]
Chr8:145618920 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.130A>C (p.Asn44His) single nucleotide variant not specified [RCV004374631] Chr8:144409029 [GRCh38]
Chr8:145634413 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2354G>A (p.Cys785Tyr) single nucleotide variant not specified [RCV004374640] Chr8:144397518 [GRCh38]
Chr8:145622733 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3082C>T (p.His1028Tyr) single nucleotide variant not specified [RCV004374646] Chr8:144395449 [GRCh38]
Chr8:145620664 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.4189A>C (p.Asn1397His) single nucleotide variant not specified [RCV004374653] Chr8:144393547 [GRCh38]
Chr8:145618762 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1237G>A (p.Asp413Asn) single nucleotide variant not specified [RCV004374630] Chr8:144399593 [GRCh38]
Chr8:145624983 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.413C>T (p.Thr138Met) single nucleotide variant not specified [RCV004374652] Chr8:144401050 [GRCh38]
Chr8:145626444 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.989T>A (p.Ile330Asn) single nucleotide variant not specified [RCV004374656] Chr8:144400034 [GRCh38]
Chr8:145625424 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.539+1G>A single nucleotide variant Myopia 27 [RCV003991838] Chr8:144400923 [GRCh38]
Chr8:145626317 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_013291.3(CPSF1):c.1999A>G (p.Met667Val) single nucleotide variant Myopia 27 [RCV003989422] Chr8:144398028 [GRCh38]
Chr8:145623243 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1752+4A>T single nucleotide variant Myopia 27 [RCV004527483] Chr8:144398521 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.4146-7_4146-6del deletion CPSF1-related disorder [RCV003946772] Chr8:144393596..144393597 [GRCh38]
Chr8:145618811..145618812 [GRCh37]
Chr8:8q24.3
likely benign
NM_013291.3(CPSF1):c.1190C>T (p.Thr397Met) single nucleotide variant CPSF1-related disorder [RCV003956951] Chr8:144399640 [GRCh38]
Chr8:145625030 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2022C>G (p.Ser674=) single nucleotide variant CPSF1-related disorder [RCV003968920] Chr8:144398005 [GRCh38]
Chr8:145623220 [GRCh37]
Chr8:8q24.3
benign
NM_013291.3(CPSF1):c.3893G>A (p.Arg1298His) single nucleotide variant not specified [RCV003988215] Chr8:144394005 [GRCh38]
Chr8:145619220 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2105G>A (p.Arg702Gln) single nucleotide variant not specified [RCV004374637] Chr8:144397848 [GRCh38]
Chr8:145623063 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2282A>C (p.Glu761Ala) single nucleotide variant not specified [RCV004374639] Chr8:144397590 [GRCh38]
Chr8:145622805 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2407C>T (p.Arg803Trp) single nucleotide variant not specified [RCV004374641] Chr8:144397392 [GRCh38]
Chr8:145622607 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2897T>C (p.Met966Thr) single nucleotide variant not specified [RCV004374645] Chr8:144396430 [GRCh38]
Chr8:145621645 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.4207C>A (p.Leu1403Met) single nucleotide variant not specified [RCV004374654] Chr8:144393529 [GRCh38]
Chr8:145618744 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3519C>T (p.Thr1173=) single nucleotide variant CPSF1-related disorder [RCV003909624] Chr8:144394692 [GRCh38]
Chr8:145619907 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
NM_013291.3(CPSF1):c.1258_1259del (p.Lys420fs) deletion Myopia 27 [RCV004566414] Chr8:144399487..144399488 [GRCh38]
Chr8:145624877..145624878 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3 copy number gain not provided [RCV004577489] Chr8:145033578..146296885 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.259G>T (p.Ala87Ser) single nucleotide variant not specified [RCV004611098] Chr8:144401477 [GRCh38]
Chr8:145626871 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.719T>C (p.Ile240Thr) single nucleotide variant not specified [RCV004611105] Chr8:144400461 [GRCh38]
Chr8:145625855 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.612C>G (p.Ile204Met) single nucleotide variant not specified [RCV004611102] Chr8:144400745 [GRCh38]
Chr8:145626139 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1138G>A (p.Gly380Arg) single nucleotide variant not specified [RCV004611103] Chr8:144399692 [GRCh38]
Chr8:145625082 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3874G>A (p.Gly1292Arg) single nucleotide variant not specified [RCV004611104] Chr8:144394024 [GRCh38]
Chr8:145619239 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2729A>T (p.Lys910Met) single nucleotide variant not specified [RCV004611101] Chr8:144396695 [GRCh38]
Chr8:145621910 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.1847G>A (p.Arg616His) single nucleotide variant not specified [RCV004611096] Chr8:144398349 [GRCh38]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2780G>A (p.Arg927His) single nucleotide variant not specified [RCV004611097] Chr8:144396644 [GRCh38]
Chr8:145621859 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2437G>A (p.Val813Met) single nucleotide variant not specified [RCV004611099] Chr8:144397362 [GRCh38]
Chr8:145622577 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.910A>G (p.Thr304Ala) single nucleotide variant CPSF1-related disorder [RCV004730521] Chr8:144400193 [GRCh38]
Chr8:145625587 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.3127C>T (p.Pro1043Ser) single nucleotide variant CPSF1-related disorder [RCV004755071] Chr8:144395325 [GRCh38]
Chr8:145620540 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2752G>A (p.Ala918Thr) single nucleotide variant CPSF1-related disorder [RCV004755250] Chr8:144396672 [GRCh38]
Chr8:145621887 [GRCh37]
Chr8:8q24.3
likely benign
NM_013291.3(CPSF1):c.2143G>A (p.Gly715Ser) single nucleotide variant CPSF1-related disorder [RCV004755354] Chr8:144397810 [GRCh38]
Chr8:145623025 [GRCh37]
Chr8:8q24.3
likely benign
NM_013291.3(CPSF1):c.1818G>A (p.Thr606=) single nucleotide variant CPSF1-related disorder [RCV004755286] Chr8:144398378 [GRCh38]
Chr8:8q24.3
likely benign
NM_013291.3(CPSF1):c.2972_2974del (p.Asn991del) deletion CPSF1-related disorder [RCV004730781] Chr8:144396353..144396355 [GRCh38]
Chr8:145621568..145621570 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2894C>T (p.Pro965Leu) single nucleotide variant not specified [RCV004702181] Chr8:144396433 [GRCh38]
Chr8:145621648 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_013291.3(CPSF1):c.2262C>T (p.Leu754=) single nucleotide variant not provided [RCV004722631] Chr8:144397610 [GRCh38]
Chr8:145622825 [GRCh37]
Chr8:8q24.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4427
Count of miRNA genes:1007
Interacting mature miRNAs:1263
Transcripts:ENST00000349769, ENST00000526271, ENST00000527827, ENST00000527916, ENST00000529288, ENST00000531042, ENST00000531480, ENST00000531683, ENST00000531727, ENST00000532560, ENST00000532725, ENST00000532935, ENST00000533492
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406900742GWAS549718_H7-alpha-hydroxy-3-oxo-4-cholestenoate 7-Hoca measurement QTL GWAS549718 (human)3e-107-alpha-hydroxy-3-oxo-4-cholestenoate 7-Hoca measurement8144405804144405805Human

Markers in Region
RH104428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,618,523 - 145,618,741UniSTSGRCh37
Build 368145,589,331 - 145,589,549RGDNCBI36
Celera8141,792,982 - 141,793,200RGD
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map8q24.23UniSTS
HuRef8140,731,525 - 140,731,743UniSTS
GeneMap99-GB4 RH Map2299.26UniSTS
ECD00501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372232,665,400 - 32,666,302UniSTSGRCh37
Build 362230,995,400 - 30,996,302RGDNCBI36
Celera2216,467,619 - 16,468,521RGD
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map8q24.23UniSTS
HuRef2215,623,032 - 15,623,934UniSTS
STS-R82814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,625,404 - 145,625,641UniSTSGRCh37
Build 368145,596,212 - 145,596,449RGDNCBI36
Celera2216,467,870 - 16,468,023UniSTS
Celera8141,799,630 - 141,799,863RGD
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map8q24.23UniSTS
HuRef2215,623,283 - 15,623,436UniSTS
HuRef8140,738,406 - 140,738,641UniSTS
GeneMap99-GB4 RH Map2294.76UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_013291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD299980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U37012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000526271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,393,699 - 144,394,716 (-)Ensembl
Ensembl Acc Id: ENST00000527827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,396,015 - 144,396,730 (-)Ensembl
Ensembl Acc Id: ENST00000527916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,398,523 - 144,399,346 (-)Ensembl
Ensembl Acc Id: ENST00000529288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,395,313 - 144,395,979 (-)Ensembl
Ensembl Acc Id: ENST00000531042   ⟹   ENSP00000435761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,394,769 - 144,409,181 (-)Ensembl
Ensembl Acc Id: ENST00000531480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,393,229 - 144,394,416 (-)Ensembl
Ensembl Acc Id: ENST00000531727   ⟹   ENSP00000483775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,393,229 - 144,394,441 (-)Ensembl
Ensembl Acc Id: ENST00000532560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,399,800 - 144,400,986 (-)Ensembl
Ensembl Acc Id: ENST00000532725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,393,565 - 144,394,237 (-)Ensembl
Ensembl Acc Id: ENST00000532935   ⟹   ENSP00000478161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,393,883 - 144,394,761 (-)Ensembl
Ensembl Acc Id: ENST00000533492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,399,220 - 144,399,807 (-)Ensembl
Ensembl Acc Id: ENST00000616140   ⟹   ENSP00000484669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,393,231 - 144,409,335 (-)Ensembl
Ensembl Acc Id: ENST00000620219   ⟹   ENSP00000478145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,393,318 - 144,409,288 (-)Ensembl
Ensembl Acc Id: ENST00000622776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,399,809 - 144,401,675 (-)Ensembl
RefSeq Acc Id: NM_013291   ⟹   NP_037423
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,393,231 - 144,409,335 (-)NCBI
GRCh378145,618,446 - 145,634,733 (-)ENTREZGENE
Build 368145,589,254 - 145,605,541 (-)NCBI Archive
HuRef8140,731,448 - 140,747,966 (-)ENTREZGENE
CHM1_18145,656,550 - 145,673,024 (-)NCBI
T2T-CHM13v2.08145,562,868 - 145,579,148 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716548   ⟹   XP_006716611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,393,231 - 144,409,335 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421732   ⟹   XP_047277688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,393,231 - 144,402,114 (-)NCBI
RefSeq Acc Id: XM_047421733   ⟹   XP_047277689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,393,231 - 144,409,198 (-)NCBI
RefSeq Acc Id: XM_047421734   ⟹   XP_047277690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,393,231 - 144,405,295 (-)NCBI
RefSeq Acc Id: XM_047421735   ⟹   XP_047277691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,393,231 - 144,405,295 (-)NCBI
RefSeq Acc Id: XM_047421736   ⟹   XP_047277692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,393,231 - 144,398,230 (-)NCBI
RefSeq Acc Id: XM_054360380   ⟹   XP_054216355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,562,868 - 145,579,148 (-)NCBI
RefSeq Acc Id: XM_054360381   ⟹   XP_054216356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,562,868 - 145,579,148 (-)NCBI
RefSeq Acc Id: XM_054360382   ⟹   XP_054216357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,562,868 - 145,579,148 (-)NCBI
RefSeq Acc Id: XM_054360383   ⟹   XP_054216358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,562,868 - 145,571,809 (-)NCBI
RefSeq Acc Id: XM_054360384   ⟹   XP_054216359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,562,868 - 145,575,110 (-)NCBI
RefSeq Acc Id: XM_054360385   ⟹   XP_054216360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,562,868 - 145,575,110 (-)NCBI
RefSeq Acc Id: XM_054360386   ⟹   XP_054216361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,562,868 - 145,578,979 (-)NCBI
RefSeq Acc Id: XM_054360387   ⟹   XP_054216362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08145,562,868 - 145,567,854 (-)NCBI
Protein Sequences
Protein RefSeqs NP_037423 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716611 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277688 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277689 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277690 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277691 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277692 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188162 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188163 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188164 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188165 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188166 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188167 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216355 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216356 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216357 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216358 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216359 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216360 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216361 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216362 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50293 (Get FASTA)   NCBI Sequence Viewer  
  AAH17232 (Get FASTA)   NCBI Sequence Viewer  
  BAB21613 (Get FASTA)   NCBI Sequence Viewer  
  BAG57065 (Get FASTA)   NCBI Sequence Viewer  
  EAW82106 (Get FASTA)   NCBI Sequence Viewer  
  EAW82107 (Get FASTA)   NCBI Sequence Viewer  
  EAW82108 (Get FASTA)   NCBI Sequence Viewer  
  EAW82109 (Get FASTA)   NCBI Sequence Viewer  
  EAW82110 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000435761.2
  ENSP00000478145.1
  ENSP00000478161.1
  ENSP00000483775.1
  ENSP00000484669
  ENSP00000484669.1
  ENSP00000494028.1
  ENSP00000495020.1
  ENSP00000495102.1
  ENSP00000495553.1
  ENSP00000495973.1
GenBank Protein Q10570 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_037423   ⟸   NM_013291
- UniProtKB: Q96AF0 (UniProtKB/Swiss-Prot),   Q10570 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716611   ⟸   XM_006716548
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000478145   ⟸   ENST00000620219
Ensembl Acc Id: ENSP00000483775   ⟸   ENST00000531727
Ensembl Acc Id: ENSP00000435761   ⟸   ENST00000531042
Ensembl Acc Id: ENSP00000478161   ⟸   ENST00000532935
Ensembl Acc Id: ENSP00000484669   ⟸   ENST00000616140
RefSeq Acc Id: XP_047277689   ⟸   XM_047421733
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047277691   ⟸   XM_047421735
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047277690   ⟸   XM_047421734
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047277688   ⟸   XM_047421732
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047277692   ⟸   XM_047421736
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216357   ⟸   XM_054360382
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216355   ⟸   XM_054360380
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054216356   ⟸   XM_054360381
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216361   ⟸   XM_054360386
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216360   ⟸   XM_054360385
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216359   ⟸   XM_054360384
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216358   ⟸   XM_054360383
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216362   ⟸   XM_054360387
- Peptide Label: isoform X3
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q10570-F1-model_v2 AlphaFold Q10570 1-1443 view protein structure

Promoters
RGD ID:7214465
Promoter ID:EPDNEW_H12979
Type:initiation region
Name:CPSF1_1
Description:cleavage and polyadenylation specific factor 1
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
GRCh388144,409,313 - 144,409,373EPDNEW
RGD ID:6813370
Promoter ID:HG_ACW:79425
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:CPSF1.EAPR07,   CPSF1.FAPR07,   CPSF1.GAPR07,   CPSF1.MAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,591,091 - 145,591,591 (-)MPROMDB
RGD ID:6813369
Promoter ID:HG_ACW:79428
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:CPSF1.HAPR07,   CPSF1.LAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,595,956 - 145,596,456 (-)MPROMDB
RGD ID:6806576
Promoter ID:HG_KWN:62339
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_013291,   UC003ZCL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,605,291 - 145,605,791 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2324 AgrOrtholog
COSMIC CPSF1 COSMIC
Ensembl Genes ENSG00000071894 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285049 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000531042.5 UniProtKB/TrEMBL
  ENST00000531727.5 UniProtKB/TrEMBL
  ENST00000532935.5 UniProtKB/TrEMBL
  ENST00000616140 ENTREZGENE
  ENST00000616140.2 UniProtKB/Swiss-Prot
  ENST00000620219.4 UniProtKB/Swiss-Prot
  ENST00000642755.1 UniProtKB/TrEMBL
  ENST00000643746.1 UniProtKB/Swiss-Prot
  ENST00000644539.2 UniProtKB/Swiss-Prot
  ENST00000645204.1 UniProtKB/TrEMBL
  ENST00000647550.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.910 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000071894 GTEx
  ENSG00000285049 GTEx
HGNC ID HGNC:2324 ENTREZGENE
Human Proteome Map CPSF1 Human Proteome Map
InterPro Cleavage/polyA-sp_fac_asu_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cleavage/polyA-sp_fac_asu_N UniProtKB/Swiss-Prot
  RSE1/DDB1/CFT1/CPSF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29894 UniProtKB/Swiss-Prot
NCBI Gene 29894 ENTREZGENE
OMIM 606027 OMIM
PANTHER CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR SUBUNIT 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA REPAIR/RNA PROCESSING CPSF FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CPSF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MMS1_N UniProtKB/Swiss-Prot
PharmGKB PA26841 PharmGKB
UniProt A0A087WTV4_HUMAN UniProtKB/TrEMBL
  A0A087X101_HUMAN UniProtKB/TrEMBL
  CPSF1_HUMAN UniProtKB/Swiss-Prot
  E9PIM1_HUMAN UniProtKB/TrEMBL
  Q10570 ENTREZGENE
  Q96AF0 ENTREZGENE
UniProt Secondary Q96AF0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 CPSF1  cleavage and polyadenylation specific factor 1  CPSF1  cleavage and polyadenylation specific factor 1, 160kDa  Symbol and/or name change 5135510 APPROVED