CEP57L1 (centrosomal protein 57 like 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: CEP57L1 (centrosomal protein 57 like 1) Homo sapiens
Analyze
Symbol: CEP57L1
Name: centrosomal protein 57 like 1
RGD ID: 1347020
HGNC Page HGNC:21561
Description: Enables identical protein binding activity. Predicted to be located in cytoplasm and microtubule. Predicted to be active in centrosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: bA487F23.2; C6orf182; centrosomal protein 57kDa-like 1; centrosomal protein 57kDa-like protein 1; centrosomal protein CEP57L1; centrosomal protein of 57 kDa-related protein; cep57-related protein; cep57R; MGC21731; MGC70837
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CEP57L1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386109,095,163 - 109,174,418 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6109,095,110 - 109,174,418 (+)EnsemblGRCh38hg38GRCh38
GRCh376109,416,366 - 109,495,621 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366109,523,049 - 109,591,808 (+)NCBINCBI36Build 36hg18NCBI36
Build 346109,557,199 - 109,591,796NCBI
Celera6110,162,263 - 110,231,004 (+)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6106,981,952 - 107,050,575 (+)NCBIHuRef
CHM1_16109,679,463 - 109,748,218 (+)NCBICHM1_1
T2T-CHM13v2.06110,273,270 - 110,352,465 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

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:12477932   PMID:14702039   PMID:15489334   PMID:16341674   PMID:16344560   PMID:17043677   PMID:17207965   PMID:19322201   PMID:20139978   PMID:21516116   PMID:21873635   PMID:23535732  
PMID:24722188   PMID:25184681   PMID:25416956   PMID:25910212   PMID:26496610   PMID:26561035   PMID:26638075   PMID:26871637   PMID:27229929   PMID:28986522   PMID:32296183   PMID:32393512  
PMID:33492359   PMID:33961781   PMID:34079125   PMID:35384245   PMID:35914814   PMID:36217029   PMID:36217030  


Genomics

Comparative Map Data
CEP57L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386109,095,163 - 109,174,418 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6109,095,110 - 109,174,418 (+)EnsemblGRCh38hg38GRCh38
GRCh376109,416,366 - 109,495,621 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366109,523,049 - 109,591,808 (+)NCBINCBI36Build 36hg18NCBI36
Build 346109,557,199 - 109,591,796NCBI
Celera6110,162,263 - 110,231,004 (+)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6106,981,952 - 107,050,575 (+)NCBIHuRef
CHM1_16109,679,463 - 109,748,218 (+)NCBICHM1_1
T2T-CHM13v2.06110,273,270 - 110,352,465 (+)NCBIT2T-CHM13v2.0
Cep57l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391041,594,836 - 41,686,413 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1041,594,836 - 41,685,867 (-)EnsemblGRCm39 Ensembl
GRCm381041,718,840 - 41,809,868 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1041,718,840 - 41,809,871 (-)EnsemblGRCm38mm10GRCm38
MGSCv371041,438,652 - 41,529,436 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361041,407,261 - 41,498,290 (-)NCBIMGSCv36mm8
Celera1042,599,183 - 42,689,951 (-)NCBICelera
Cytogenetic Map10B2NCBI
cM Map1022.69NCBI
Cep57l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82046,820,350 - 46,876,911 (-)NCBIGRCr8
mRatBN7.22045,238,039 - 45,294,575 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2045,238,044 - 45,294,540 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2046,956,335 - 47,011,994 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02046,606,519 - 46,662,181 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02047,306,067 - 47,361,761 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02046,610,144 - 46,666,780 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2046,610,146 - 46,666,830 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02048,290,241 - 48,346,896 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42045,730,365 - 45,785,949 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12045,753,376 - 45,808,960 (-)NCBI
Celera2054,662,904 - 54,718,387 (+)NCBICelera
Cytogenetic Map20q12NCBI
Cep57l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541134,187,569 - 34,212,182 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541134,140,830 - 34,213,086 (+)NCBIChiLan1.0ChiLan1.0
CEP57L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25129,102,292 - 129,171,259 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16126,993,709 - 127,073,473 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06106,896,158 - 106,965,644 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16110,945,840 - 111,015,188 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6110,980,433 - 111,015,188 (+)Ensemblpanpan1.1panPan2
CEP57L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11266,058,098 - 66,133,632 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1266,058,418 - 66,127,027 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1265,876,771 - 65,949,828 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01266,940,018 - 67,013,064 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1266,940,121 - 67,013,823 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11266,290,328 - 66,363,496 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01266,138,500 - 66,211,501 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01266,410,744 - 66,483,713 (+)NCBIUU_Cfam_GSD_1.0
Cep57l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946101,017,143 - 101,060,042 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365645,299,512 - 5,337,844 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365645,292,214 - 5,335,112 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEP57L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl175,171,061 - 75,227,022 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1175,170,989 - 75,228,210 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2184,464,737 - 84,559,239 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CEP57L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11364,700,812 - 64,755,742 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1364,702,595 - 64,718,542 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604036,985,370 - 37,057,617 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cep57l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624916379,522 - 404,186 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624916333,369 - 407,633 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CEP57L1
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 copy number loss See cases [RCV000134806] Chr6:102356502..111049879 [GRCh38]
Chr6:102804377..111371082 [GRCh37]
Chr6:102911070..111477775 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1		 pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31		 pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q21(chr6:107445281-110547907)x1 copy number loss See cases [RCV000141382] Chr6:107445281..110547907 [GRCh38]
Chr6:107766485..110869110 [GRCh37]
Chr6:107873178..110975803 [NCBI36]
Chr6:6q21		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31		 pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 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 6q16.1-21(chr6:97384446-110247755)x1 copy number loss See cases [RCV000510703] Chr6:97384446..110247755 [GRCh37]
Chr6:6q16.1-21		 pathogenic
NM_001271852.3(CEP57L1):c.652T>C (p.Ser218Pro) single nucleotide variant Inborn genetic diseases [RCV003262268] Chr6:109155302 [GRCh38]
Chr6:109476505 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1 copy number loss See cases [RCV000512470] Chr6:94202605..109878834 [GRCh37]
Chr6:6q16.1-21		 pathogenic
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1		 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
NM_001271852.3(CEP57L1):c.28G>T (p.Val10Leu) single nucleotide variant not provided [RCV000970986] Chr6:109145249 [GRCh38]
Chr6:109466452 [GRCh37]
Chr6:6q21		 benign
NM_001271852.3(CEP57L1):c.393G>A (p.Lys131=) single nucleotide variant not provided [RCV000975121] Chr6:109150170 [GRCh38]
Chr6:109471373 [GRCh37]
Chr6:6q21		 benign
NM_001271852.3(CEP57L1):c.810del (p.Phe270fs) deletion not provided [RCV000890898] Chr6:109159087 [GRCh38]
Chr6:109480290 [GRCh37]
Chr6:6q21		 likely benign
NM_001271852.3(CEP57L1):c.976C>T (p.Leu326Phe) single nucleotide variant Inborn genetic diseases [RCV003242633] Chr6:109159422 [GRCh38]
Chr6:109480625 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1		 pathogenic
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21		 pathogenic
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) copy number loss not specified [RCV002053598] Chr6:92054891..118329651 [GRCh37]
Chr6:6q15-22.2		 pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
NC_000006.11:g.(?_107019871)_(110266416_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV003116781]|not provided [RCV003116782] Chr6:107019871..110266416 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance|no classifications from unflagged records
NM_001271852.3(CEP57L1):c.34A>G (p.Ser12Gly) single nucleotide variant Inborn genetic diseases [RCV002970485] Chr6:109145255 [GRCh38]
Chr6:109466458 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.810T>A (p.Phe270Leu) single nucleotide variant Inborn genetic diseases [RCV002759874] Chr6:109159090 [GRCh38]
Chr6:109480293 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.1361A>T (p.Asp454Val) single nucleotide variant Inborn genetic diseases [RCV002660709] Chr6:109162948 [GRCh38]
Chr6:109484151 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.56G>A (p.Arg19Lys) single nucleotide variant Inborn genetic diseases [RCV003000554] Chr6:109145277 [GRCh38]
Chr6:109466480 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.1187A>G (p.Gln396Arg) single nucleotide variant Inborn genetic diseases [RCV002854046] Chr6:109162774 [GRCh38]
Chr6:109483977 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.16A>G (p.Met6Val) single nucleotide variant Inborn genetic diseases [RCV002984388] Chr6:109145237 [GRCh38]
Chr6:109466440 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.203G>A (p.Arg68His) single nucleotide variant Inborn genetic diseases [RCV002826278] Chr6:109146800 [GRCh38]
Chr6:109468003 [GRCh37]
Chr6:6q21		 likely benign
NM_001271852.3(CEP57L1):c.717C>A (p.His239Gln) single nucleotide variant Inborn genetic diseases [RCV002892976] Chr6:109155850 [GRCh38]
Chr6:109477053 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.164T>G (p.Leu55Arg) single nucleotide variant Inborn genetic diseases [RCV002673018] Chr6:109146761 [GRCh38]
Chr6:109467964 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.1251G>C (p.Lys417Asn) single nucleotide variant Inborn genetic diseases [RCV002920956] Chr6:109162838 [GRCh38]
Chr6:109484041 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.828G>T (p.Arg276Ser) single nucleotide variant Inborn genetic diseases [RCV002722264] Chr6:109159274 [GRCh38]
Chr6:109480477 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.868G>T (p.Val290Leu) single nucleotide variant Inborn genetic diseases [RCV002680648] Chr6:109159314 [GRCh38]
Chr6:109480517 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.202C>T (p.Arg68Cys) single nucleotide variant Inborn genetic diseases [RCV003195686] Chr6:109146799 [GRCh38]
Chr6:109468002 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.463G>A (p.Ala155Thr) single nucleotide variant Inborn genetic diseases [RCV003341057] Chr6:109153833 [GRCh38]
Chr6:109475036 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.18G>A (p.Met6Ile) single nucleotide variant Inborn genetic diseases [RCV003371758] Chr6:109145239 [GRCh38]
Chr6:109466442 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.931C>T (p.Pro311Ser) single nucleotide variant Inborn genetic diseases [RCV003347320] Chr6:109159377 [GRCh38]
Chr6:109480580 [GRCh37]
Chr6:6q21		 likely benign
NM_001271852.3(CEP57L1):c.197T>A (p.Ile66Asn) single nucleotide variant Inborn genetic diseases [RCV003369260] Chr6:109146794 [GRCh38]
Chr6:109467997 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:108992778-110303422)x1 copy number loss not specified [RCV003986671] Chr6:108992778..110303422 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001271852.3(CEP57L1):c.1096T>C (p.Cys366Arg) single nucleotide variant Inborn genetic diseases [RCV003357880] Chr6:109160651 [GRCh38]
Chr6:109481854 [GRCh37]
Chr6:6q21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4883
Count of miRNA genes:1129
Interacting mature miRNAs:1383
Transcripts:ENST00000336977, ENST00000359793, ENST00000368968, ENST00000368970, ENST00000407272, ENST00000517392, ENST00000518329, ENST00000518853, ENST00000519095, ENST00000519286, ENST00000519407, ENST00000520610, ENST00000520761, ENST00000520883, ENST00000521277, ENST00000521503, ENST00000521522, ENST00000521737, ENST00000522461, ENST00000522490, ENST00000522608, ENST00000523174, ENST00000523209, ENST00000523787, ENST00000524064
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH118418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376109,436,604 - 109,436,886UniSTSGRCh37
Build 366109,543,297 - 109,543,579RGDNCBI36
Celera6110,182,511 - 110,182,793RGD
Cytogenetic Map6q21UniSTS
HuRef6107,002,200 - 107,002,482UniSTS
TNG Radiation Hybrid Map660494.0UniSTS
SHGC-111913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376109,481,449 - 109,481,656UniSTSGRCh37
Build 366109,588,142 - 109,588,349RGDNCBI36
Celera6110,227,338 - 110,227,545RGD
Cytogenetic Map6q21UniSTS
HuRef6107,046,909 - 107,047,116UniSTS
TNG Radiation Hybrid Map660509.0UniSTS
STS-N30830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376109,484,900 - 109,485,020UniSTSGRCh37
Build 366109,591,593 - 109,591,713RGDNCBI36
Celera6110,230,789 - 110,230,909RGD
Cytogenetic Map6q21UniSTS
HuRef6107,050,360 - 107,050,480UniSTS
GeneMap99-GB4 RH Map6466.91UniSTS
NCBI RH Map61401.4UniSTS
STS-AA027059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376109,477,693 - 109,477,942UniSTSGRCh37
Build 366109,584,386 - 109,584,635RGDNCBI36
Celera6110,223,582 - 110,223,831RGD
Cytogenetic Map6q21UniSTS
HuRef6107,043,153 - 107,043,402UniSTS
GeneMap99-GB4 RH Map6459.71UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 15 7 14 7 163 8 38 34 76 24 166 91 2 1 12
Low 2418 2306 1707 614 1171 454 4311 2098 3564 392 1294 1522 173 1 1202 2770 6 2
Below cutoff 5 678 5 3 617 3 8 65 93 3 1 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001083535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA761530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM787514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ267680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX093163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB204503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB522144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359793   ⟹   ENSP00000352841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,129,304 - 109,163,910 (+)Ensembl
RefSeq Acc Id: ENST00000368968   ⟹   ENSP00000357964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,520 - 109,163,163 (+)Ensembl
RefSeq Acc Id: ENST00000368970   ⟹   ENSP00000357966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,529 - 109,163,166 (+)Ensembl
RefSeq Acc Id: ENST00000407272   ⟹   ENSP00000383936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,158 - 109,156,793 (+)Ensembl
RefSeq Acc Id: ENST00000517392   ⟹   ENSP00000427844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,507 - 109,174,418 (+)Ensembl
RefSeq Acc Id: ENST00000518329   ⟹   ENSP00000430402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,182 - 109,145,381 (+)Ensembl
RefSeq Acc Id: ENST00000518853   ⟹   ENSP00000430265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,188 - 109,155,823 (+)Ensembl
RefSeq Acc Id: ENST00000519095   ⟹   ENSP00000430911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,512 - 109,155,974 (+)Ensembl
RefSeq Acc Id: ENST00000519286   ⟹   ENSP00000429812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,163 - 109,155,268 (+)Ensembl
RefSeq Acc Id: ENST00000519407   ⟹   ENSP00000430565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,510 - 109,155,301 (+)Ensembl
RefSeq Acc Id: ENST00000520610   ⟹   ENSP00000428668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,519 - 109,160,659 (+)Ensembl
RefSeq Acc Id: ENST00000520761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,551 - 109,159,446 (+)Ensembl
RefSeq Acc Id: ENST00000520883   ⟹   ENSP00000430011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,544 - 109,163,907 (+)Ensembl
RefSeq Acc Id: ENST00000521277   ⟹   ENSP00000430558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,110 - 109,158,488 (+)Ensembl
RefSeq Acc Id: ENST00000521503   ⟹   ENSP00000431113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,510 - 109,146,933 (+)Ensembl
RefSeq Acc Id: ENST00000521522   ⟹   ENSP00000428344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,481 - 109,163,907 (+)Ensembl
RefSeq Acc Id: ENST00000521737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,153 - 109,140,465 (+)Ensembl
RefSeq Acc Id: ENST00000522461   ⟹   ENSP00000429402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,185 - 109,145,307 (+)Ensembl
RefSeq Acc Id: ENST00000522490   ⟹   ENSP00000429957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,524 - 109,159,308 (+)Ensembl
RefSeq Acc Id: ENST00000522608   ⟹   ENSP00000428464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,505 - 109,146,936 (+)Ensembl
RefSeq Acc Id: ENST00000523174   ⟹   ENSP00000428682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,155,791 - 109,160,765 (+)Ensembl
RefSeq Acc Id: ENST00000523209   ⟹   ENSP00000430013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,526 - 109,155,854 (+)Ensembl
RefSeq Acc Id: ENST00000523787   ⟹   ENSP00000430529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,562 - 109,163,903 (+)Ensembl
RefSeq Acc Id: ENST00000524064   ⟹   ENSP00000427771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,095,496 - 109,155,235 (+)Ensembl
RefSeq Acc Id: NM_001083535   ⟹   NP_001077004
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
GRCh376109,416,329 - 109,485,115 (+)NCBI
Build 366109,523,049 - 109,591,808 (+)NCBI Archive
Celera6110,162,263 - 110,231,004 (+)RGD
HuRef6106,981,952 - 107,050,575 (+)ENTREZGENE
CHM1_16109,679,463 - 109,748,218 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001271852   ⟹   NP_001258781
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
HuRef6106,981,952 - 107,050,575 (+)NCBI
CHM1_16109,679,463 - 109,748,218 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001271853   ⟹   NP_001258782
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
HuRef6106,981,952 - 107,050,575 (+)NCBI
CHM1_16109,679,463 - 109,748,218 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350652   ⟹   NP_001337581
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350653   ⟹   NP_001337582
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350654   ⟹   NP_001337583
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350655   ⟹   NP_001337584
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350656   ⟹   NP_001337585
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350657   ⟹   NP_001337586
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350658   ⟹   NP_001337587
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350659   ⟹   NP_001337588
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350660   ⟹   NP_001337589
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350661   ⟹   NP_001337590
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350662   ⟹   NP_001337591
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,163 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,270 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350663   ⟹   NP_001337592
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350664   ⟹   NP_001337593
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,174,418 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350665   ⟹   NP_001337594
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,156,797 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,334,845 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350666   ⟹   NP_001337595
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,156,797 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,334,845 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173830   ⟹   NP_776191
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,129,304 - 109,174,418 (+)NCBI
GRCh376109,416,329 - 109,485,115 (+)NCBI
Build 366109,557,200 - 109,591,808 (+)NCBI Archive
Celera6110,162,263 - 110,231,004 (+)RGD
HuRef6106,981,952 - 107,050,575 (+)ENTREZGENE
CHM1_16109,713,610 - 109,748,218 (+)NCBI
T2T-CHM13v2.06110,307,389 - 110,352,465 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146888
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,156,797 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,334,845 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146889
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,507 - 109,156,797 (+)NCBI
T2T-CHM13v2.06110,273,614 - 110,334,845 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001077004 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258781 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258782 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337581 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337582 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337583 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337584 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337585 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337586 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337587 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337588 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337589 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337590 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337591 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337592 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337593 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337594 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337595 (Get FASTA)   NCBI Sequence Viewer  
  NP_776191 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH33448 (Get FASTA)   NCBI Sequence Viewer  
  AAH64365 (Get FASTA)   NCBI Sequence Viewer  
  BAF82599 (Get FASTA)   NCBI Sequence Viewer  
  EAW48361 (Get FASTA)   NCBI Sequence Viewer  
  EAW48362 (Get FASTA)   NCBI Sequence Viewer  
  EAW48363 (Get FASTA)   NCBI Sequence Viewer  
  EAW48364 (Get FASTA)   NCBI Sequence Viewer  
  EAW48365 (Get FASTA)   NCBI Sequence Viewer  
  EAW48366 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000352841
  ENSP00000352841.3
  ENSP00000357964
  ENSP00000357964.2
  ENSP00000357966
  ENSP00000357966.2
  ENSP00000427771.1
  ENSP00000427844
  ENSP00000427844.1
  ENSP00000428344.1
  ENSP00000428464.1
  ENSP00000428668.1
  ENSP00000428682.1
  ENSP00000429402.1
  ENSP00000429812.1
  ENSP00000429957.1
  ENSP00000430011.1
  ENSP00000430013.1
  ENSP00000430265.1
  ENSP00000430402.1
  ENSP00000430529.1
  ENSP00000430558
  ENSP00000430558.1
  ENSP00000430565.1
  ENSP00000430911
  ENSP00000430911.1
  ENSP00000431113.1
GenBank Protein Q8IYX8 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001077004   ⟸   NM_001083535
- Peptide Label: isoform 1
- UniProtKB: G5E992 (UniProtKB/Swiss-Prot),   Q8IYX8 (UniProtKB/Swiss-Prot),   G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_776191   ⟸   NM_173830
- Peptide Label: isoform 1
- UniProtKB: G5E992 (UniProtKB/Swiss-Prot),   Q8IYX8 (UniProtKB/Swiss-Prot),   G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258782   ⟸   NM_001271853
- Peptide Label: isoform 2
- UniProtKB: G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258781   ⟸   NM_001271852
- Peptide Label: isoform 1
- UniProtKB: G5E992 (UniProtKB/Swiss-Prot),   Q8IYX8 (UniProtKB/Swiss-Prot),   G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337584   ⟸   NM_001350655
- Peptide Label: isoform 3
- UniProtKB: G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337587   ⟸   NM_001350658
- Peptide Label: isoform 3
- UniProtKB: G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337582   ⟸   NM_001350653
- Peptide Label: isoform 1
- UniProtKB: Q8IYX8 (UniProtKB/Swiss-Prot),   G5E992 (UniProtKB/Swiss-Prot),   G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337586   ⟸   NM_001350657
- Peptide Label: isoform 3
- UniProtKB: G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337581   ⟸   NM_001350652
- Peptide Label: isoform 1
- UniProtKB: Q8IYX8 (UniProtKB/Swiss-Prot),   G5E992 (UniProtKB/Swiss-Prot),   G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337588   ⟸   NM_001350659
- Peptide Label: isoform 4
- UniProtKB: G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337589   ⟸   NM_001350660
- Peptide Label: isoform 5
- UniProtKB: Q5T6A0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337593   ⟸   NM_001350664
- Peptide Label: isoform 6
- UniProtKB: Q5T6A0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337583   ⟸   NM_001350654
- Peptide Label: isoform 3
- UniProtKB: G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337585   ⟸   NM_001350656
- Peptide Label: isoform 9
- UniProtKB: E5RFY4 (UniProtKB/TrEMBL),   G3V140 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337590   ⟸   NM_001350661
- Peptide Label: isoform 5
- UniProtKB: Q5T6A0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337592   ⟸   NM_001350663
- Peptide Label: isoform 6
- UniProtKB: Q5T6A0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337591   ⟸   NM_001350662
- Peptide Label: isoform 6
- UniProtKB: Q5T6A0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337594   ⟸   NM_001350665
- Peptide Label: isoform 7
- UniProtKB: Q6P2R3 (UniProtKB/TrEMBL),   E5RG21 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337595   ⟸   NM_001350666
- Peptide Label: isoform 8
- UniProtKB: E5RJH1 (UniProtKB/TrEMBL),   E5RG21 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000352841   ⟸   ENST00000359793
RefSeq Acc Id: ENSP00000427844   ⟸   ENST00000517392
RefSeq Acc Id: ENSP00000430265   ⟸   ENST00000518853
RefSeq Acc Id: ENSP00000430402   ⟸   ENST00000518329
RefSeq Acc Id: ENSP00000430911   ⟸   ENST00000519095
RefSeq Acc Id: ENSP00000430565   ⟸   ENST00000519407
RefSeq Acc Id: ENSP00000429812   ⟸   ENST00000519286
RefSeq Acc Id: ENSP00000430011   ⟸   ENST00000520883
RefSeq Acc Id: ENSP00000428668   ⟸   ENST00000520610
RefSeq Acc Id: ENSP00000430558   ⟸   ENST00000521277
RefSeq Acc Id: ENSP00000428344   ⟸   ENST00000521522
RefSeq Acc Id: ENSP00000431113   ⟸   ENST00000521503
RefSeq Acc Id: ENSP00000428464   ⟸   ENST00000522608
RefSeq Acc Id: ENSP00000429402   ⟸   ENST00000522461
RefSeq Acc Id: ENSP00000429957   ⟸   ENST00000522490
RefSeq Acc Id: ENSP00000430013   ⟸   ENST00000523209
RefSeq Acc Id: ENSP00000430529   ⟸   ENST00000523787
RefSeq Acc Id: ENSP00000428682   ⟸   ENST00000523174
RefSeq Acc Id: ENSP00000427771   ⟸   ENST00000524064
RefSeq Acc Id: ENSP00000383936   ⟸   ENST00000407272
RefSeq Acc Id: ENSP00000357966   ⟸   ENST00000368970
RefSeq Acc Id: ENSP00000357964   ⟸   ENST00000368968
Protein Domains
Cep57 centrosome localisation   Cep57 centrosome microtubule-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IYX8-F1-model_v2 AlphaFold Q8IYX8 1-460 view protein structure

Promoters
RGD ID:7208853
Promoter ID:EPDNEW_H10172
Type:initiation region
Name:CEP57L1_1
Description:centrosomal protein 57 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,095,163 - 109,095,223EPDNEW
RGD ID:6804112
Promoter ID:HG_KWN:54585
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:ENST00000336977,   ENST00000368970,   NM_001083535,   UC003PSV.2,   UC003PSW.2,   UC003PSX.2,   UC010KDL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366109,522,351 - 109,523,452 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21561 AgrOrtholog
COSMIC CEP57L1 COSMIC
Ensembl Genes ENSG00000183137 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000359793 ENTREZGENE
  ENST00000359793.7 UniProtKB/Swiss-Prot
  ENST00000368968 ENTREZGENE
  ENST00000368968.6 UniProtKB/Swiss-Prot
  ENST00000368970 ENTREZGENE
  ENST00000368970.6 UniProtKB/TrEMBL
  ENST00000517392 ENTREZGENE
  ENST00000517392.6 UniProtKB/Swiss-Prot
  ENST00000518329.5 UniProtKB/TrEMBL
  ENST00000518853.5 UniProtKB/TrEMBL
  ENST00000519095 ENTREZGENE
  ENST00000519095.5 UniProtKB/TrEMBL
  ENST00000519286.5 UniProtKB/TrEMBL
  ENST00000519407.5 UniProtKB/TrEMBL
  ENST00000520610.5 UniProtKB/TrEMBL
  ENST00000520883.5 UniProtKB/TrEMBL
  ENST00000521277 ENTREZGENE
  ENST00000521277.5 UniProtKB/TrEMBL
  ENST00000521503.5 UniProtKB/TrEMBL
  ENST00000521522.5 UniProtKB/TrEMBL
  ENST00000522461.5 UniProtKB/TrEMBL
  ENST00000522490.5 UniProtKB/TrEMBL
  ENST00000522608.5 UniProtKB/TrEMBL
  ENST00000523174.1 UniProtKB/TrEMBL
  ENST00000523209.5 UniProtKB/TrEMBL
  ENST00000523787.5 UniProtKB/TrEMBL
  ENST00000524064.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183137 GTEx
HGNC ID HGNC:21561 ENTREZGENE
Human Proteome Map CEP57L1 Human Proteome Map
InterPro Cep57_CLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cep57_MT-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:285753 UniProtKB/Swiss-Prot
NCBI Gene 285753 ENTREZGENE
PANTHER CENTROSOMAL PROTEIN CEP57L1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UNCHARACTERIZED DUF1167 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cep57_CLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cep57_MT_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134980921 PharmGKB
UniProt CE57L_HUMAN UniProtKB/Swiss-Prot
  E5RFY4 ENTREZGENE, UniProtKB/TrEMBL
  E5RG21 ENTREZGENE, UniProtKB/TrEMBL
  E5RG82_HUMAN UniProtKB/TrEMBL
  E5RGP2_HUMAN UniProtKB/TrEMBL
  E5RGU5_HUMAN UniProtKB/TrEMBL
  E5RH23_HUMAN UniProtKB/TrEMBL
  E5RHF8_HUMAN UniProtKB/TrEMBL
  E5RI49_HUMAN UniProtKB/TrEMBL
  E5RIK8_HUMAN UniProtKB/TrEMBL
  E5RIV2_HUMAN UniProtKB/TrEMBL
  E5RJG4_HUMAN UniProtKB/TrEMBL
  E5RJH1 ENTREZGENE, UniProtKB/TrEMBL
  E5RJP9_HUMAN UniProtKB/TrEMBL
  E5RK85_HUMAN UniProtKB/TrEMBL
  G3V140 ENTREZGENE, UniProtKB/TrEMBL
  G5E992 ENTREZGENE
  H0YB52_HUMAN UniProtKB/TrEMBL
  Q5T6A0 ENTREZGENE, UniProtKB/TrEMBL
  Q6P2R3 ENTREZGENE, UniProtKB/TrEMBL
  Q8IYX8 ENTREZGENE
UniProt Secondary G5E992 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 CEP57L1  centrosomal protein 57 like 1    centrosomal protein 57kDa-like 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 CEP57L1  centrosomal protein 57kDa-like 1  C6orf182  chromosome 6 open reading frame 182  Symbol and/or name change 5135510 APPROVED