CEP97 (centrosomal protein 97) - Rat Genome Database

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Gene: CEP97 (centrosomal protein 97) Homo sapiens
Analyze
Symbol: CEP97
Name: centrosomal protein 97
RGD ID: 1343045
HGNC Page HGNC:26244
Description: Predicted to enable U2 snRNA binding activity and calmodulin binding activity. Involved in negative regulation of cilium assembly and regulation of mitotic spindle assembly. Located in centriole and centrosome. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2810403B08Rik; centrosomal protein 97kDa; centrosomal protein of 97 kDa; FLJ23047; FLJ26462; leucine-rich repeat and IQ domain-containing protein 2; leucine-rich repeats and IQ motif containing 2; LRRIQ2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383101,724,614 - 101,770,562 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3101,724,534 - 101,770,562 (+)EnsemblGRCh38hg38GRCh38
GRCh373101,443,458 - 101,489,406 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363102,926,184 - 102,968,871 (+)NCBINCBI36Build 36hg18NCBI36
Build 343102,926,183 - 102,968,871NCBI
Celera399,836,584 - 99,879,276 (+)NCBICelera
Cytogenetic Map3q12.3NCBI
HuRef398,812,356 - 98,854,863 (+)NCBIHuRef
CHM1_13101,406,776 - 101,449,462 (+)NCBICHM1_1
T2T-CHM13v2.03104,437,398 - 104,483,348 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
centriole  (IDA,IEA)
centrosome  (IBA,IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (TAS)
protein-containing complex  (IDA)
U2 snRNP  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8125298   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17719545   PMID:18029348   PMID:18068367   PMID:18694559   PMID:19460342   PMID:19596235   PMID:19875381   PMID:20360068  
PMID:21399614   PMID:21620453   PMID:21873635   PMID:22261722   PMID:22441691   PMID:23443559   PMID:23486064   PMID:23602568   PMID:24421332   PMID:24613305   PMID:24981860   PMID:25036637  
PMID:25437307   PMID:25659891   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26972000   PMID:27173435   PMID:27634302   PMID:28514442   PMID:28718761  
PMID:29053956   PMID:29395067   PMID:29507755   PMID:29560723   PMID:29778605   PMID:30110629   PMID:30375385   PMID:30404837   PMID:31073040   PMID:31091453   PMID:31685992   PMID:31871319  
PMID:32060285   PMID:32707033   PMID:32989298   PMID:33888907   PMID:33961781   PMID:34079125   PMID:34316702   PMID:34383978   PMID:34795231   PMID:35224516   PMID:35256949   PMID:35271311  
PMID:35439318   PMID:35709258   PMID:35833506   PMID:36114006   PMID:36199071   PMID:36215168   PMID:36779422   PMID:37689310   PMID:37827155  


Genomics

Comparative Map Data
CEP97
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383101,724,614 - 101,770,562 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3101,724,534 - 101,770,562 (+)EnsemblGRCh38hg38GRCh38
GRCh373101,443,458 - 101,489,406 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363102,926,184 - 102,968,871 (+)NCBINCBI36Build 36hg18NCBI36
Build 343102,926,183 - 102,968,871NCBI
Celera399,836,584 - 99,879,276 (+)NCBICelera
Cytogenetic Map3q12.3NCBI
HuRef398,812,356 - 98,854,863 (+)NCBIHuRef
CHM1_13101,406,776 - 101,449,462 (+)NCBICHM1_1
T2T-CHM13v2.03104,437,398 - 104,483,348 (+)NCBIT2T-CHM13v2.0
Cep97
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391655,720,250 - 55,755,237 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1655,720,251 - 55,755,218 (-)EnsemblGRCm39 Ensembl
GRCm381655,899,888 - 55,934,848 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1655,899,888 - 55,934,855 (-)EnsemblGRCm38mm10GRCm38
MGSCv371655,900,001 - 55,934,961 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361655,827,214 - 55,859,799 (-)NCBIMGSCv36mm8
Celera1656,215,320 - 56,250,333 (-)NCBICelera
Cytogenetic Map16C1.1NCBI
cM Map1633.69NCBI
Cep97
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81158,152,561 - 58,187,174 (+)NCBIGRCr8
mRatBN7.21144,683,503 - 44,711,471 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1144,683,506 - 44,711,471 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1153,460,034 - 53,487,994 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01146,121,663 - 46,149,623 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01145,245,827 - 45,273,786 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01147,146,409 - 47,174,460 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1147,146,308 - 47,174,713 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01150,327,756 - 50,355,273 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41145,658,903 - 45,687,089 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11145,716,552 - 45,744,460 (+)NCBI
Celera1144,434,493 - 44,462,608 (+)NCBICelera
Cytogenetic Map11q12NCBI
Cep97
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554273,227,130 - 3,247,062 (+)NCBIChiLan1.0ChiLan1.0
CEP97
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2299,660,769 - 99,709,171 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1399,665,536 - 99,713,949 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0398,812,804 - 98,858,899 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13105,494,497 - 105,539,141 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3105,494,497 - 105,536,308 (+)Ensemblpanpan1.1panPan2
CEP97
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1338,023,788 - 8,064,131 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl338,040,668 - 8,060,095 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha338,177,212 - 8,218,683 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0338,161,916 - 8,203,211 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl338,179,806 - 8,201,378 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1338,049,482 - 8,090,862 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0338,095,875 - 8,137,087 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0338,436,238 - 8,477,706 (+)NCBIUU_Cfam_GSD_1.0
Cep97
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602148,788,944 - 148,836,496 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366301,715,155 - 1,734,444 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366301,715,225 - 1,734,560 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEP97
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13157,356,253 - 157,388,411 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113157,356,248 - 157,388,425 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213166,846,046 - 166,864,860 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CEP97
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12279,138,774 - 79,176,186 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2279,140,794 - 79,176,244 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604187,355,355 - 87,421,257 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cep97
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478915,508,484 - 15,532,599 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478915,508,271 - 15,532,494 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CEP97
200 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1		 pathogenic
GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3 copy number gain See cases [RCV000134705] Chr3:101596165..102374145 [GRCh38]
Chr3:101315009..102092989 [GRCh37]
Chr3:102797699..103575679 [NCBI36]
Chr3:3q12.3		 likely benign
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 copy number loss See cases [RCV000135320] Chr3:93819623..116887056 [GRCh38]
Chr3:93538467..116605903 [GRCh37]
Chr3:95021157..118088593 [NCBI36]
Chr3:3q11.1-13.31		 pathogenic
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 copy number loss See cases [RCV000138186] Chr3:97795369..115663349 [GRCh38]
Chr3:97514213..115382196 [GRCh37]
Chr3:98996903..116864886 [NCBI36]
Chr3:3q11.2-13.31		 pathogenic|uncertain significance
GRCh38/hg38 3q12.3(chr3:101626311-101744959)x3 copy number gain See cases [RCV000141405] Chr3:101626311..101744959 [GRCh38]
Chr3:101345155..101463803 [GRCh37]
Chr3:102827845..102946493 [NCBI36]
Chr3:3q12.3		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3 copy number gain See cases [RCV000143259] Chr3:93819623..103888749 [GRCh38]
Chr3:93538467..103607593 [GRCh37]
Chr3:95021157..105090283 [NCBI36]
Chr3:3q11.1-13.11		 likely pathogenic|uncertain significance
NM_024548.4(CEP97):c.1148A>G (p.His383Arg) single nucleotide variant Global developmental delay [RCV000454159] Chr3:101757754 [GRCh38]
Chr3:101476598 [GRCh37]
Chr3:3q12.3		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q12.2-13.13(chr3:100613996-108976446)x3 copy number gain not provided [RCV000742661] Chr3:100613996..108976446 [GRCh37]
Chr3:3q12.2-13.13		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_024548.4(CEP97):c.1868A>C (p.Glu623Ala) single nucleotide variant Inborn genetic diseases [RCV003290311] Chr3:101762535 [GRCh38]
Chr3:101481379 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2022C>T (p.Ser674=) single nucleotide variant not provided [RCV000956117] Chr3:101764975 [GRCh38]
Chr3:101483819 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.176G>A (p.Arg59Gln) single nucleotide variant not provided [RCV000957835] Chr3:101726726 [GRCh38]
Chr3:101445570 [GRCh37]
Chr3:3q12.3		 benign
GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1 copy number loss not provided [RCV001259224] Chr3:95563096..102371126 [GRCh37]
Chr3:3q11.2-12.3		 likely pathogenic
NM_024548.4(CEP97):c.447+4_447+7del microsatellite not provided [RCV003109161] Chr3:101728936..101728939 [GRCh38]
Chr3:101447780..101447783 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1727A>G (p.Asn576Ser) single nucleotide variant Inborn genetic diseases [RCV003254040]|not provided [RCV003779871] Chr3:101758333 [GRCh38]
Chr3:101477177 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1973G>C (p.Ser658Thr) single nucleotide variant not provided [RCV001911837] Chr3:101764926 [GRCh38]
Chr3:101483770 [GRCh37]
Chr3:3q12.3		 uncertain significance
GRCh37/hg19 3q12.3(chr3:101191611-101938521) copy number gain not specified [RCV002053365] Chr3:101191611..101938521 [GRCh37]
Chr3:3q12.3		 uncertain significance
NC_000003.11:g.(?_100945813)_(101484395_?)del deletion not provided [RCV001926522] Chr3:100945813..101484395 [GRCh37]
Chr3:3q12.3		 pathogenic
NM_024548.4(CEP97):c.603G>C (p.Ser201=) single nucleotide variant not provided [RCV002169774] Chr3:101732529 [GRCh38]
Chr3:101451373 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2446G>A (p.Ala816Thr) single nucleotide variant not provided [RCV002166804] Chr3:101765399 [GRCh38]
Chr3:101484243 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2538G>A (p.Gln846=) single nucleotide variant not provided [RCV002106587] Chr3:101765491 [GRCh38]
Chr3:101484335 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.1308A>G (p.Ala436=) single nucleotide variant not provided [RCV002209658] Chr3:101757914 [GRCh38]
Chr3:101476758 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.1195C>T (p.Leu399Phe) single nucleotide variant not provided [RCV002078977] Chr3:101757801 [GRCh38]
Chr3:101476645 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.187-17_187-16del microsatellite not provided [RCV002075246] Chr3:101727364..101727365 [GRCh38]
Chr3:101446208..101446209 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.955G>C (p.Val319Leu) single nucleotide variant not provided [RCV002094208] Chr3:101757124 [GRCh38]
Chr3:101475968 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.1222G>T (p.Val408Phe) single nucleotide variant not provided [RCV002077468] Chr3:101757828 [GRCh38]
Chr3:101476672 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1400T>A (p.Met467Lys) single nucleotide variant not provided [RCV002163465] Chr3:101758006 [GRCh38]
Chr3:101476850 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.310C>T (p.Leu104=) single nucleotide variant not provided [RCV002176450] Chr3:101727506 [GRCh38]
Chr3:101446350 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.840A>T (p.Leu280=) single nucleotide variant not provided [RCV002136869] Chr3:101755541 [GRCh38]
Chr3:101474385 [GRCh37]
Chr3:3q12.3		 benign|likely benign
NM_024548.4(CEP97):c.1282T>G (p.Leu428Val) single nucleotide variant not provided [RCV002155541] Chr3:101757888 [GRCh38]
Chr3:101476732 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.1339G>A (p.Val447Met) single nucleotide variant Inborn genetic diseases [RCV003257910] Chr3:101757945 [GRCh38]
Chr3:101476789 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.898C>T (p.His300Tyr) single nucleotide variant not provided [RCV002774769] Chr3:101757067 [GRCh38]
Chr3:101475911 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1412T>A (p.Ile471Asn) single nucleotide variant Inborn genetic diseases [RCV002907188] Chr3:101758018 [GRCh38]
Chr3:101476862 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.839T>C (p.Leu280Pro) single nucleotide variant not provided [RCV002615398] Chr3:101755540 [GRCh38]
Chr3:101474384 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.186+3A>T single nucleotide variant not provided [RCV002754929] Chr3:101726739 [GRCh38]
Chr3:101445583 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.603G>A (p.Ser201=) single nucleotide variant not provided [RCV002971647] Chr3:101732529 [GRCh38]
Chr3:101451373 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1923A>C (p.Thr641=) single nucleotide variant not provided [RCV002755184] Chr3:101764876 [GRCh38]
Chr3:101483720 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1674A>G (p.Leu558=) single nucleotide variant not provided [RCV002727346] Chr3:101758280 [GRCh38]
Chr3:101477124 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.14G>T (p.Arg5Leu) single nucleotide variant not provided [RCV003075143] Chr3:101724690 [GRCh38]
Chr3:101443534 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1899G>T (p.Arg633Ser) single nucleotide variant not provided [RCV002904204] Chr3:101764852 [GRCh38]
Chr3:101483696 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1274G>T (p.Gly425Val) single nucleotide variant not provided [RCV003032522] Chr3:101757880 [GRCh38]
Chr3:101476724 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.909G>A (p.Gln303=) single nucleotide variant not provided [RCV002731601] Chr3:101757078 [GRCh38]
Chr3:101475922 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1688C>A (p.Thr563Asn) single nucleotide variant not provided [RCV002617181] Chr3:101758294 [GRCh38]
Chr3:101477138 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1844G>A (p.Arg615His) single nucleotide variant Inborn genetic diseases [RCV002995318]|not provided [RCV002995317] Chr3:101762511 [GRCh38]
Chr3:101481355 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2102C>T (p.Ser701Phe) single nucleotide variant Inborn genetic diseases [RCV002739445]|not provided [RCV003542469] Chr3:101765055 [GRCh38]
Chr3:101483899 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.43+7C>G single nucleotide variant not provided [RCV003021828] Chr3:101724726 [GRCh38]
Chr3:101443570 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.713T>C (p.Ile238Thr) single nucleotide variant not provided [RCV002914257] Chr3:101732639 [GRCh38]
Chr3:101451483 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1451G>T (p.Cys484Phe) single nucleotide variant Inborn genetic diseases [RCV002610998]|not provided [RCV002592161] Chr3:101758057 [GRCh38]
Chr3:101476901 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2013C>G (p.Ser671Arg) single nucleotide variant Inborn genetic diseases [RCV003000845] Chr3:101764966 [GRCh38]
Chr3:101483810 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.44-13G>A single nucleotide variant not provided [RCV002781218] Chr3:101726581 [GRCh38]
Chr3:101445425 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.1778T>C (p.Met593Thr) single nucleotide variant not provided [RCV002621217] Chr3:101758384 [GRCh38]
Chr3:101477228 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.669C>T (p.Ile223=) single nucleotide variant not provided [RCV002913709] Chr3:101732595 [GRCh38]
Chr3:101451439 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1772G>A (p.Arg591His) single nucleotide variant not provided [RCV002622521] Chr3:101758378 [GRCh38]
Chr3:101477222 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.924C>A (p.Ser308Arg) single nucleotide variant Inborn genetic diseases [RCV002887483] Chr3:101757093 [GRCh38]
Chr3:101475937 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1973G>A (p.Ser658Asn) single nucleotide variant not provided [RCV003079731] Chr3:101764926 [GRCh38]
Chr3:101483770 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1310A>T (p.Asp437Val) single nucleotide variant not provided [RCV002785233] Chr3:101757916 [GRCh38]
Chr3:101476760 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.550G>A (p.Asp184Asn) single nucleotide variant not provided [RCV002867493] Chr3:101731942 [GRCh38]
Chr3:101450786 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.534A>C (p.Ala178=) single nucleotide variant not provided [RCV002637359] Chr3:101731926 [GRCh38]
Chr3:101450770 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1031C>T (p.Pro344Leu) single nucleotide variant not provided [RCV002975748] Chr3:101757637 [GRCh38]
Chr3:101476481 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1466T>C (p.Ile489Thr) single nucleotide variant Inborn genetic diseases [RCV002980166] Chr3:101758072 [GRCh38]
Chr3:101476916 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1463C>A (p.Thr488Lys) single nucleotide variant not provided [RCV002761069] Chr3:101758069 [GRCh38]
Chr3:101476913 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1381G>A (p.Glu461Lys) single nucleotide variant not provided [RCV002785350] Chr3:101757987 [GRCh38]
Chr3:101476831 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2087C>T (p.Pro696Leu) single nucleotide variant not provided [RCV002795549] Chr3:101765040 [GRCh38]
Chr3:101483884 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1586T>C (p.Ile529Thr) single nucleotide variant not provided [RCV002979846] Chr3:101758192 [GRCh38]
Chr3:101477036 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.277G>A (p.Gly93Ser) single nucleotide variant Inborn genetic diseases [RCV002713616] Chr3:101727473 [GRCh38]
Chr3:101446317 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2438C>G (p.Ser813Cys) single nucleotide variant not provided [RCV002894017] Chr3:101765391 [GRCh38]
Chr3:101484235 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.88C>A (p.Pro30Thr) single nucleotide variant not provided [RCV002982294] Chr3:101726638 [GRCh38]
Chr3:101445482 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.641T>C (p.Ile214Thr) single nucleotide variant not provided [RCV002700896] Chr3:101732567 [GRCh38]
Chr3:101451411 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.799G>T (p.Val267Phe) single nucleotide variant not provided [RCV003043514] Chr3:101755500 [GRCh38]
Chr3:101474344 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.728+7_728+8del deletion not provided [RCV002623378] Chr3:101732661..101732662 [GRCh38]
Chr3:101451505..101451506 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.775C>T (p.Arg259Trp) single nucleotide variant not provided [RCV002643531] Chr3:101755476 [GRCh38]
Chr3:101474320 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.561+13G>T single nucleotide variant not provided [RCV002594738] Chr3:101731966 [GRCh38]
Chr3:101450810 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1626C>T (p.Thr542=) single nucleotide variant not provided [RCV002574078] Chr3:101758232 [GRCh38]
Chr3:101477076 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.728+17T>C single nucleotide variant not provided [RCV002852092] Chr3:101732671 [GRCh38]
Chr3:101451515 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1448C>T (p.Pro483Leu) single nucleotide variant Inborn genetic diseases [RCV002768011] Chr3:101758054 [GRCh38]
Chr3:101476898 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.28T>C (p.Leu10=) single nucleotide variant not provided [RCV002625221] Chr3:101724704 [GRCh38]
Chr3:101443548 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2265T>C (p.His755=) single nucleotide variant not provided [RCV002766855] Chr3:101765218 [GRCh38]
Chr3:101484062 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1829A>G (p.Glu610Gly) single nucleotide variant not provided [RCV003059644] Chr3:101762496 [GRCh38]
Chr3:101481340 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1771C>T (p.Arg591Cys) single nucleotide variant not provided [RCV002932420] Chr3:101758377 [GRCh38]
Chr3:101477221 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2200G>A (p.Gly734Arg) single nucleotide variant not provided [RCV002830231] Chr3:101765153 [GRCh38]
Chr3:101483997 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1006T>C (p.Cys336Arg) single nucleotide variant not provided [RCV002929033] Chr3:101757175 [GRCh38]
Chr3:101476019 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2420T>C (p.Val807Ala) single nucleotide variant Inborn genetic diseases [RCV002654588]|not provided [RCV002625213] Chr3:101765373 [GRCh38]
Chr3:101484217 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.481C>T (p.Leu161Phe) single nucleotide variant not provided [RCV003083820] Chr3:101731873 [GRCh38]
Chr3:101450717 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.187T>C (p.Leu63=) single nucleotide variant not provided [RCV003031484] Chr3:101727383 [GRCh38]
Chr3:101446227 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1502T>C (p.Leu501Pro) single nucleotide variant not provided [RCV003089917] Chr3:101758108 [GRCh38]
Chr3:101476952 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2481T>C (p.Pro827=) single nucleotide variant not provided [RCV002715472] Chr3:101765434 [GRCh38]
Chr3:101484278 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1871C>G (p.Ala624Gly) single nucleotide variant Inborn genetic diseases [RCV002632409]|not provided [RCV002603648] Chr3:101762538 [GRCh38]
Chr3:101481382 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.447+9G>T single nucleotide variant not provided [RCV002811087] Chr3:101728946 [GRCh38]
Chr3:101447790 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.532G>A (p.Ala178Thr) single nucleotide variant not provided [RCV002581365] Chr3:101731924 [GRCh38]
Chr3:101450768 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2533G>T (p.Val845Phe) single nucleotide variant not provided [RCV002857499] Chr3:101765486 [GRCh38]
Chr3:101484330 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.663G>T (p.Pro221=) single nucleotide variant not provided [RCV003092084] Chr3:101732589 [GRCh38]
Chr3:101451433 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.265C>T (p.His89Tyr) single nucleotide variant Inborn genetic diseases [RCV003061028]|not provided [RCV003061027] Chr3:101727461 [GRCh38]
Chr3:101446305 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.214C>T (p.Arg72Trp) single nucleotide variant not provided [RCV002632865] Chr3:101727410 [GRCh38]
Chr3:101446254 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.780T>A (p.Pro260=) single nucleotide variant not provided [RCV003062153] Chr3:101755481 [GRCh38]
Chr3:101474325 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.690C>G (p.Leu230=) single nucleotide variant not provided [RCV003011125] Chr3:101732616 [GRCh38]
Chr3:101451460 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.1844G>C (p.Arg615Pro) single nucleotide variant not provided [RCV002646266] Chr3:101762511 [GRCh38]
Chr3:101481355 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2566T>C (p.Phe856Leu) single nucleotide variant not provided [RCV002937741] Chr3:101765519 [GRCh38]
Chr3:101484363 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1089G>A (p.Ala363=) single nucleotide variant not provided [RCV002937837] Chr3:101757695 [GRCh38]
Chr3:101476539 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.43+17C>T single nucleotide variant not provided [RCV002646322] Chr3:101724736 [GRCh38]
Chr3:101443580 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1403G>T (p.Arg468Ile) single nucleotide variant Inborn genetic diseases [RCV003340642]|not provided [RCV002628642] Chr3:101758009 [GRCh38]
Chr3:101476853 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1860A>G (p.Val620=) single nucleotide variant not provided [RCV003010193] Chr3:101762527 [GRCh38]
Chr3:101481371 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2489G>A (p.Gly830Asp) single nucleotide variant not provided [RCV002938692] Chr3:101765442 [GRCh38]
Chr3:101484286 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1764C>A (p.Ile588=) single nucleotide variant not provided [RCV002579227] Chr3:101758370 [GRCh38]
Chr3:101477214 [GRCh37]
Chr3:3q12.3		 benign
NM_024548.4(CEP97):c.1010A>C (p.Gln337Pro) single nucleotide variant Inborn genetic diseases [RCV002831905]|not provided [RCV003777840] Chr3:101757179 [GRCh38]
Chr3:101476023 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1373C>G (p.Ala458Gly) single nucleotide variant Inborn genetic diseases [RCV002878528] Chr3:101757979 [GRCh38]
Chr3:101476823 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1197C>T (p.Leu399=) single nucleotide variant not provided [RCV002939130] Chr3:101757803 [GRCh38]
Chr3:101476647 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1094A>G (p.Lys365Arg) single nucleotide variant not provided [RCV003046875] Chr3:101757700 [GRCh38]
Chr3:101476544 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1206G>A (p.Glu402=) single nucleotide variant not provided [RCV002581690] Chr3:101757812 [GRCh38]
Chr3:101476656 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2016G>A (p.Gln672=) single nucleotide variant not provided [RCV002576573] Chr3:101764969 [GRCh38]
Chr3:101483813 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1625C>T (p.Thr542Ile) single nucleotide variant not provided [RCV002598985] Chr3:101758231 [GRCh38]
Chr3:101477075 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1119C>T (p.His373=) single nucleotide variant not provided [RCV002810886] Chr3:101757725 [GRCh38]
Chr3:101476569 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2153del (p.Leu718fs) deletion not provided [RCV002630273] Chr3:101765104 [GRCh38]
Chr3:101483948 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1033G>A (p.Val345Ile) single nucleotide variant Inborn genetic diseases [RCV002718527] Chr3:101757639 [GRCh38]
Chr3:101476483 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1941T>G (p.Ser647Arg) single nucleotide variant not provided [RCV003091453] Chr3:101764894 [GRCh38]
Chr3:101483738 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.530T>A (p.Leu177Ter) single nucleotide variant not provided [RCV002646688] Chr3:101731922 [GRCh38]
Chr3:101450766 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2111A>G (p.His704Arg) single nucleotide variant not provided [RCV002602336] Chr3:101765064 [GRCh38]
Chr3:101483908 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1843C>T (p.Arg615Cys) single nucleotide variant Inborn genetic diseases [RCV003086512]|not provided [RCV003086511] Chr3:101762510 [GRCh38]
Chr3:101481354 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2222G>T (p.Arg741Ile) single nucleotide variant Inborn genetic diseases [RCV002966861]|not provided [RCV002966862] Chr3:101765175 [GRCh38]
Chr3:101484019 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1824A>G (p.Arg608=) single nucleotide variant not provided [RCV002962484] Chr3:101762491 [GRCh38]
Chr3:101481335 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.368G>A (p.Cys123Tyr) single nucleotide variant Inborn genetic diseases [RCV002792265] Chr3:101728858 [GRCh38]
Chr3:101447702 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.811G>A (p.Ala271Thr) single nucleotide variant not provided [RCV002633807] Chr3:101755512 [GRCh38]
Chr3:101474356 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2206del (p.Ser736fs) deletion not provided [RCV002725911] Chr3:101765158 [GRCh38]
Chr3:101484002 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2017G>T (p.Glu673Ter) single nucleotide variant not provided [RCV002815093] Chr3:101764970 [GRCh38]
Chr3:101483814 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.117C>G (p.His39Gln) single nucleotide variant Inborn genetic diseases [RCV003170643]|not provided [RCV002942561] Chr3:101726667 [GRCh38]
Chr3:101445511 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1487A>T (p.Asp496Val) single nucleotide variant not provided [RCV002633809] Chr3:101758093 [GRCh38]
Chr3:101476937 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2111A>C (p.His704Pro) single nucleotide variant not provided [RCV002680989] Chr3:101765064 [GRCh38]
Chr3:101483908 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.884G>A (p.Ser295Asn) single nucleotide variant Inborn genetic diseases [RCV002584803]|not provided [RCV002584804] Chr3:101755585 [GRCh38]
Chr3:101474429 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1073A>C (p.Asp358Ala) single nucleotide variant not provided [RCV002653071] Chr3:101757679 [GRCh38]
Chr3:101476523 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2473T>G (p.Ser825Ala) single nucleotide variant not provided [RCV003070742] Chr3:101765426 [GRCh38]
Chr3:101484270 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2579A>G (p.His860Arg) single nucleotide variant not provided [RCV002606858] Chr3:101765532 [GRCh38]
Chr3:101484376 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1400T>C (p.Met467Thr) single nucleotide variant not provided [RCV003066851] Chr3:101758006 [GRCh38]
Chr3:101476850 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1604A>G (p.Glu535Gly) single nucleotide variant not provided [RCV002613061] Chr3:101758210 [GRCh38]
Chr3:101477054 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1753C>T (p.Arg585Cys) single nucleotide variant not provided [RCV002611035] Chr3:101758359 [GRCh38]
Chr3:101477203 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.239C>T (p.Thr80Met) single nucleotide variant not provided [RCV002586774] Chr3:101727435 [GRCh38]
Chr3:101446279 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2110C>T (p.His704Tyr) single nucleotide variant not provided [RCV002607748] Chr3:101765063 [GRCh38]
Chr3:101483907 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.729-11C>A single nucleotide variant not provided [RCV002588999] Chr3:101755419 [GRCh38]
Chr3:101474263 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.520A>G (p.Ile174Val) single nucleotide variant not provided [RCV002654504] Chr3:101731912 [GRCh38]
Chr3:101450756 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.964A>G (p.Arg322Gly) single nucleotide variant not provided [RCV002612104] Chr3:101757133 [GRCh38]
Chr3:101475977 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1928A>G (p.Asp643Gly) single nucleotide variant Inborn genetic diseases [RCV003073125]|not provided [RCV003073124] Chr3:101764881 [GRCh38]
Chr3:101483725 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2041G>T (p.Asp681Tyr) single nucleotide variant not provided [RCV002605499] Chr3:101764994 [GRCh38]
Chr3:101483838 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2123C>T (p.Thr708Ile) single nucleotide variant Inborn genetic diseases [RCV003212835] Chr3:101765076 [GRCh38]
Chr3:101483920 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.602C>T (p.Ser201Leu) single nucleotide variant Inborn genetic diseases [RCV003200534]|not provided [RCV003779719] Chr3:101732528 [GRCh38]
Chr3:101451372 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2349A>T (p.Glu783Asp) single nucleotide variant Inborn genetic diseases [RCV003309395] Chr3:101765302 [GRCh38]
Chr3:101484146 [GRCh37]
Chr3:3q12.3		 likely benign
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2		 pathogenic
NM_024548.4(CEP97):c.1805A>T (p.Asp602Val) single nucleotide variant Inborn genetic diseases [RCV003374331] Chr3:101758411 [GRCh38]
Chr3:101477255 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.937T>C (p.Leu313=) single nucleotide variant not provided [RCV003875577] Chr3:101757106 [GRCh38]
Chr3:101475950 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2284A>G (p.Ser762Gly) single nucleotide variant not provided [RCV003880320] Chr3:101765237 [GRCh38]
Chr3:101484081 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.915G>A (p.Met305Ile) single nucleotide variant not provided [RCV003826066] Chr3:101757084 [GRCh38]
Chr3:101475928 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2264A>C (p.His755Pro) single nucleotide variant not provided [RCV003872855] Chr3:101765217 [GRCh38]
Chr3:101484061 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.663G>A (p.Pro221=) single nucleotide variant not provided [RCV003872602] Chr3:101732589 [GRCh38]
Chr3:101451433 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.525T>G (p.Leu175=) single nucleotide variant not provided [RCV003831072] Chr3:101731917 [GRCh38]
Chr3:101450761 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1994A>G (p.His665Arg) single nucleotide variant not provided [RCV003829111] Chr3:101764947 [GRCh38]
Chr3:101483791 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.387C>T (p.Leu129=) single nucleotide variant not provided [RCV003738923] Chr3:101728877 [GRCh38]
Chr3:101447721 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.660G>A (p.Arg220=) single nucleotide variant not provided [RCV003740205] Chr3:101732586 [GRCh38]
Chr3:101451430 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2141T>C (p.Leu714Ser) single nucleotide variant not provided [RCV003829239] Chr3:101765094 [GRCh38]
Chr3:101483938 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.187-5T>C single nucleotide variant not provided [RCV003828159] Chr3:101727378 [GRCh38]
Chr3:101446222 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.829A>T (p.Thr277Ser) single nucleotide variant not provided [RCV003828249] Chr3:101755530 [GRCh38]
Chr3:101474374 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1201T>G (p.Ser401Ala) single nucleotide variant not provided [RCV003712851] Chr3:101757807 [GRCh38]
Chr3:101476651 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.105del (p.Ala36fs) deletion not provided [RCV003876618] Chr3:101726654 [GRCh38]
Chr3:101445498 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2076G>T (p.Glu692Asp) single nucleotide variant not provided [RCV003578781] Chr3:101765029 [GRCh38]
Chr3:101483873 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.853G>A (p.Ala285Thr) single nucleotide variant not provided [RCV003544851] Chr3:101755554 [GRCh38]
Chr3:101474398 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.447+12T>C single nucleotide variant not provided [RCV003687275] Chr3:101728949 [GRCh38]
Chr3:101447793 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1608A>C (p.Lys536Asn) single nucleotide variant not provided [RCV003716168] Chr3:101758214 [GRCh38]
Chr3:101477058 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2424G>A (p.Gln808=) single nucleotide variant not provided [RCV003882622] Chr3:101765377 [GRCh38]
Chr3:101484221 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.894-17G>A single nucleotide variant not provided [RCV003574001] Chr3:101757046 [GRCh38]
Chr3:101475890 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2046G>C (p.Trp682Cys) single nucleotide variant not provided [RCV003548064] Chr3:101764999 [GRCh38]
Chr3:101483843 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2216C>T (p.Thr739Ile) single nucleotide variant not provided [RCV003835130] Chr3:101765169 [GRCh38]
Chr3:101484013 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.43+7C>T single nucleotide variant not provided [RCV003696851] Chr3:101724726 [GRCh38]
Chr3:101443570 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2311C>T (p.Leu771=) single nucleotide variant not provided [RCV003671142] Chr3:101765264 [GRCh38]
Chr3:101484108 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2441A>G (p.Asp814Gly) single nucleotide variant not provided [RCV003670342] Chr3:101765394 [GRCh38]
Chr3:101484238 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.75A>G (p.Leu25=) single nucleotide variant not provided [RCV003725995] Chr3:101726625 [GRCh38]
Chr3:101445469 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.240G>A (p.Thr80=) single nucleotide variant not provided [RCV003813835] Chr3:101727436 [GRCh38]
Chr3:101446280 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2324A>T (p.Tyr775Phe) single nucleotide variant not provided [RCV003667864] Chr3:101765277 [GRCh38]
Chr3:101484121 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1028-13T>C single nucleotide variant not provided [RCV003813932] Chr3:101757621 [GRCh38]
Chr3:101476465 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.893+7C>T single nucleotide variant not provided [RCV003663977] Chr3:101755601 [GRCh38]
Chr3:101474445 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1817+13T>A single nucleotide variant not provided [RCV003836724] Chr3:101758436 [GRCh38]
Chr3:101477280 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.187-20_187-19insTTT insertion not provided [RCV003839002] Chr3:101727363..101727364 [GRCh38]
Chr3:101446207..101446208 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1584C>A (p.Thr528=) single nucleotide variant not provided [RCV003549794] Chr3:101758190 [GRCh38]
Chr3:101477034 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.787C>A (p.His263Asn) single nucleotide variant not provided [RCV003837158] Chr3:101755488 [GRCh38]
Chr3:101474332 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2306A>G (p.Asn769Ser) single nucleotide variant not provided [RCV003559033] Chr3:101765259 [GRCh38]
Chr3:101484103 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.471C>T (p.Ile157=) single nucleotide variant not provided [RCV003854606] Chr3:101731863 [GRCh38]
Chr3:101450707 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1124C>T (p.Thr375Met) single nucleotide variant not provided [RCV003816573] Chr3:101757730 [GRCh38]
Chr3:101476574 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1473T>C (p.Ser491=) single nucleotide variant not provided [RCV003725217] Chr3:101758079 [GRCh38]
Chr3:101476923 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1443A>G (p.Leu481=) single nucleotide variant not provided [RCV003838852] Chr3:101758049 [GRCh38]
Chr3:101476893 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.447+14_447+17del deletion not provided [RCV003838226] Chr3:101728948..101728951 [GRCh38]
Chr3:101447792..101447795 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1314A>C (p.Glu438Asp) single nucleotide variant not provided [RCV003668020] Chr3:101757920 [GRCh38]
Chr3:101476764 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.307C>T (p.His103Tyr) single nucleotide variant not provided [RCV003850719] Chr3:101727503 [GRCh38]
Chr3:101446347 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1400T>G (p.Met467Arg) single nucleotide variant not provided [RCV003843451] Chr3:101758006 [GRCh38]
Chr3:101476850 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1111T>C (p.Ser371Pro) single nucleotide variant not provided [RCV003552040] Chr3:101757717 [GRCh38]
Chr3:101476561 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1590T>G (p.Ser530=) single nucleotide variant not provided [RCV003709359] Chr3:101758196 [GRCh38]
Chr3:101477040 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2442C>A (p.Asp814Glu) single nucleotide variant not provided [RCV003736328] Chr3:101765395 [GRCh38]
Chr3:101484239 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1066A>T (p.Ser356Cys) single nucleotide variant not provided [RCV003728537] Chr3:101757672 [GRCh38]
Chr3:101476516 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1079A>G (p.Gln360Arg) single nucleotide variant not provided [RCV003728538] Chr3:101757685 [GRCh38]
Chr3:101476529 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1718A>G (p.Tyr573Cys) single nucleotide variant not provided [RCV003554036] Chr3:101758324 [GRCh38]
Chr3:101477168 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2363G>A (p.Arg788Lys) single nucleotide variant not provided [RCV003857620] Chr3:101765316 [GRCh38]
Chr3:101484160 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.656A>G (p.Tyr219Cys) single nucleotide variant not provided [RCV003844153] Chr3:101732582 [GRCh38]
Chr3:101451426 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.511A>G (p.Ser171Gly) single nucleotide variant not provided [RCV003684246] Chr3:101731903 [GRCh38]
Chr3:101450747 [GRCh37]
Chr3:3q12.3		 uncertain significance
GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3 copy number gain not specified [RCV003986472] Chr3:93519465..101464485 [GRCh37]
Chr3:3q11.1-12.3		 uncertain significance
NM_024548.4(CEP97):c.263C>T (p.Pro88Leu) single nucleotide variant not provided [RCV003554820] Chr3:101727459 [GRCh38]
Chr3:101446303 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1088C>T (p.Ala363Val) single nucleotide variant not provided [RCV003821872] Chr3:101757694 [GRCh38]
Chr3:101476538 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1758C>T (p.Tyr586=) single nucleotide variant not provided [RCV003866909] Chr3:101758364 [GRCh38]
Chr3:101477208 [GRCh37]
Chr3:3q12.3		 likely benign
GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1 copy number loss not specified [RCV003986403] Chr3:100369522..104621416 [GRCh37]
Chr3:3q12.2-13.11		 uncertain significance
NM_024548.4(CEP97):c.2099A>G (p.Asp700Gly) single nucleotide variant not provided [RCV003722590] Chr3:101765052 [GRCh38]
Chr3:101483896 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.230C>T (p.Ala77Val) single nucleotide variant not provided [RCV003719895] Chr3:101727426 [GRCh38]
Chr3:101446270 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1249C>T (p.Pro417Ser) single nucleotide variant not provided [RCV003721586] Chr3:101757855 [GRCh38]
Chr3:101476699 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.249T>C (p.Arg83=) single nucleotide variant not provided [RCV003722937] Chr3:101727445 [GRCh38]
Chr3:101446289 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1458G>A (p.Glu486=) single nucleotide variant not provided [RCV003722983] Chr3:101758064 [GRCh38]
Chr3:101476908 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.777G>A (p.Arg259=) single nucleotide variant not provided [RCV003555836] Chr3:101755478 [GRCh38]
Chr3:101474322 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.2060A>T (p.Asp687Val) single nucleotide variant not provided [RCV003859916] Chr3:101765013 [GRCh38]
Chr3:101483857 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1492A>C (p.Asn498His) single nucleotide variant not provided [RCV003710335] Chr3:101758098 [GRCh38]
Chr3:101476942 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.893+7C>G single nucleotide variant not provided [RCV003704281] Chr3:101755601 [GRCh38]
Chr3:101474445 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.1477A>G (p.Ile493Val) single nucleotide variant not provided [RCV003853821] Chr3:101758083 [GRCh38]
Chr3:101476927 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1817+5G>A single nucleotide variant not provided [RCV003862347] Chr3:101758428 [GRCh38]
Chr3:101477272 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1349A>T (p.Lys450Met) single nucleotide variant not provided [RCV003728945] Chr3:101757955 [GRCh38]
Chr3:101476799 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2216C>A (p.Thr739Lys) single nucleotide variant not provided [RCV003823703] Chr3:101765169 [GRCh38]
Chr3:101484013 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2083_2084insC (p.Leu695fs) insertion not provided [RCV003566035] Chr3:101765036..101765037 [GRCh38]
Chr3:101483880..101483881 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.2392A>T (p.Ser798Cys) single nucleotide variant not provided [RCV003566015] Chr3:101765345 [GRCh38]
Chr3:101484189 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.809T>C (p.Leu270Pro) single nucleotide variant not provided [RCV003710537] Chr3:101755510 [GRCh38]
Chr3:101474354 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1584C>G (p.Thr528=) single nucleotide variant not provided [RCV003680223] Chr3:101758190 [GRCh38]
Chr3:101477034 [GRCh37]
Chr3:3q12.3		 likely benign
NM_024548.4(CEP97):c.776G>A (p.Arg259Gln) single nucleotide variant not provided [RCV003858509] Chr3:101755477 [GRCh38]
Chr3:101474321 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.1615A>G (p.Met539Val) single nucleotide variant not provided [RCV003734499] Chr3:101758221 [GRCh38]
Chr3:101477065 [GRCh37]
Chr3:3q12.3		 uncertain significance
NM_024548.4(CEP97):c.187-2A>T single nucleotide variant not provided [RCV003841449] Chr3:101727381 [GRCh38]
Chr3:101446225 [GRCh37]
Chr3:3q12.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4490
Count of miRNA genes:1181
Interacting mature miRNAs:1469
Transcripts:ENST00000327230, ENST00000341893, ENST00000462076, ENST00000465011, ENST00000467655, ENST00000489172, ENST00000494050
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SGC33242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373101,486,046 - 101,486,170UniSTSGRCh37
Build 363102,968,736 - 102,968,860RGDNCBI36
Celera399,879,141 - 99,879,265RGD
Cytogenetic Map3q12.3UniSTS
HuRef398,854,728 - 98,854,852UniSTS
GeneMap99-GB4 RH Map3353.95UniSTS
Whitehead-RH Map3429.7UniSTS
SHGC-173283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373101,449,518 - 101,449,864UniSTSGRCh37
Build 363102,932,208 - 102,932,554RGDNCBI36
Celera399,842,608 - 99,842,954RGD
Cytogenetic Map3q12.3UniSTS
HuRef398,818,361 - 98,818,707UniSTS
TNG Radiation Hybrid Map358636.0UniSTS
SHGC-77158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373101,486,012 - 101,486,154UniSTSGRCh37
Build 363102,968,702 - 102,968,844RGDNCBI36
Celera399,879,107 - 99,879,249RGD
Cytogenetic Map3q12.3UniSTS
HuRef398,854,694 - 98,854,836UniSTS
TNG Radiation Hybrid Map358658.0UniSTS
GeneMap99-GB4 RH Map3359.99UniSTS
L17705  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21.3UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS


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 33 12 9 1 301 2 455 47 741 32 241 147 4 321
Low 2402 2688 1665 573 1435 413 3899 2077 2992 381 1217 1465 170 1 1204 2465 5 2
Below cutoff 3 291 52 50 215 50 2 73 1 6 2 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001303401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC084198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA520309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000341893   ⟹   ENSP00000342510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,614 - 101,770,562 (+)Ensembl
RefSeq Acc Id: ENST00000462076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,732,611 - 101,755,478 (+)Ensembl
RefSeq Acc Id: ENST00000465011   ⟹   ENSP00000419009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,614 - 101,770,554 (+)Ensembl
RefSeq Acc Id: ENST00000467655   ⟹   ENSP00000418547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,593 - 101,765,042 (+)Ensembl
RefSeq Acc Id: ENST00000489172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,593 - 101,759,512 (+)Ensembl
RefSeq Acc Id: ENST00000494050   ⟹   ENSP00000418185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,655 - 101,765,978 (+)Ensembl
RefSeq Acc Id: ENST00000704365   ⟹   ENSP00000515873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,534 - 101,770,518 (+)Ensembl
RefSeq Acc Id: ENST00000704366   ⟹   ENSP00000515874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,614 - 101,770,554 (+)Ensembl
RefSeq Acc Id: ENST00000704367   ⟹   ENSP00000515875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,621 - 101,770,554 (+)Ensembl
RefSeq Acc Id: ENST00000704368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,621 - 101,770,554 (+)Ensembl
RefSeq Acc Id: ENST00000704369   ⟹   ENSP00000515876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,625 - 101,770,554 (+)Ensembl
RefSeq Acc Id: ENST00000704370   ⟹   ENSP00000515877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,657 - 101,770,554 (+)Ensembl
RefSeq Acc Id: ENST00000704371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,724,686 - 101,746,208 (+)Ensembl
RefSeq Acc Id: ENST00000704372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,731,039 - 101,770,554 (+)Ensembl
RefSeq Acc Id: ENST00000704444   ⟹   ENSP00000515896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,725,866 - 101,767,337 (+)Ensembl
RefSeq Acc Id: ENST00000704445   ⟹   ENSP00000515897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,725,866 - 101,767,337 (+)Ensembl
RefSeq Acc Id: ENST00000704446   ⟹   ENSP00000515898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3101,725,866 - 101,767,338 (+)Ensembl
RefSeq Acc Id: NM_001303401   ⟹   NP_001290330
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383101,724,614 - 101,770,562 (+)NCBI
CHM1_13101,406,719 - 101,452,687 (+)NCBI
T2T-CHM13v2.03104,437,398 - 104,483,348 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001410784   ⟹   NP_001397713
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383101,724,614 - 101,770,562 (+)NCBI
T2T-CHM13v2.03104,437,398 - 104,483,348 (+)NCBI
RefSeq Acc Id: NM_001410785   ⟹   NP_001397714
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383101,724,614 - 101,770,562 (+)NCBI
T2T-CHM13v2.03104,437,398 - 104,483,348 (+)NCBI
RefSeq Acc Id: NM_024548   ⟹   NP_078824
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383101,724,614 - 101,770,562 (+)NCBI
GRCh373101,443,436 - 101,489,404 (+)NCBI
Build 363102,926,184 - 102,968,871 (+)NCBI Archive
Celera399,836,584 - 99,879,276 (+)RGD
HuRef398,812,356 - 98,854,863 (+)ENTREZGENE
CHM1_13101,406,719 - 101,452,687 (+)NCBI
T2T-CHM13v2.03104,437,398 - 104,483,348 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448917   ⟹   XP_047304873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383101,727,469 - 101,770,562 (+)NCBI
RefSeq Acc Id: XM_054347858   ⟹   XP_054203833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03104,440,253 - 104,483,348 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_078824   ⟸   NM_024548
- Peptide Label: isoform 1
- UniProtKB: Q8NA71 (UniProtKB/Swiss-Prot),   B5MDY8 (UniProtKB/Swiss-Prot),   Q9H5T9 (UniProtKB/Swiss-Prot),   Q8IW35 (UniProtKB/Swiss-Prot),   A0A994J704 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290330   ⟸   NM_001303401
- Peptide Label: isoform 2
- UniProtKB: B4DGU8 (UniProtKB/TrEMBL),   E9PG22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000419009   ⟸   ENST00000465011
RefSeq Acc Id: ENSP00000418547   ⟸   ENST00000467655
RefSeq Acc Id: ENSP00000418185   ⟸   ENST00000494050
RefSeq Acc Id: ENSP00000342510   ⟸   ENST00000341893
RefSeq Acc Id: XP_047304873   ⟸   XM_047448917
- Peptide Label: isoform X1
- UniProtKB: A0A994J522 (UniProtKB/TrEMBL),   A0A994J4D7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000515897   ⟸   ENST00000704445
RefSeq Acc Id: ENSP00000515898   ⟸   ENST00000704446
RefSeq Acc Id: ENSP00000515875   ⟸   ENST00000704367
RefSeq Acc Id: ENSP00000515873   ⟸   ENST00000704365
RefSeq Acc Id: ENSP00000515896   ⟸   ENST00000704444
RefSeq Acc Id: ENSP00000515877   ⟸   ENST00000704370
RefSeq Acc Id: ENSP00000515876   ⟸   ENST00000704369
RefSeq Acc Id: ENSP00000515874   ⟸   ENST00000704366
RefSeq Acc Id: NP_001397713   ⟸   NM_001410784
- Peptide Label: isoform 3
- UniProtKB: A0A994J4L0 (UniProtKB/TrEMBL),   A0A994J704 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397714   ⟸   NM_001410785
- Peptide Label: isoform 4
- UniProtKB: A0A994J7E5 (UniProtKB/TrEMBL),   B4DGU8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203833   ⟸   XM_054347858
- Peptide Label: isoform X1
- UniProtKB: A0A994J522 (UniProtKB/TrEMBL),   A0A994J4D7 (UniProtKB/TrEMBL)
Protein Domains
IQ   LRRCT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IW35-F1-model_v2 AlphaFold Q8IW35 1-865 view protein structure

Promoters
RGD ID:6865152
Promoter ID:EPDNEW_H5741
Type:initiation region
Name:CEP97_1
Description:centrosomal protein 97
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
GRCh383101,724,619 - 101,724,679EPDNEW
RGD ID:6800761
Promoter ID:HG_KWN:45725
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000327230,   ENST00000341893,   UC010HPM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363102,926,009 - 102,926,509 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26244 AgrOrtholog
COSMIC CEP97 COSMIC
Ensembl Genes ENSG00000182504 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000341893 ENTREZGENE
  ENST00000341893.8 UniProtKB/Swiss-Prot
  ENST00000465011.2 UniProtKB/TrEMBL
  ENST00000467655.2 UniProtKB/TrEMBL
  ENST00000494050 ENTREZGENE
  ENST00000494050.5 UniProtKB/TrEMBL
  ENST00000704365.1 UniProtKB/Swiss-Prot
  ENST00000704366 ENTREZGENE
  ENST00000704366.1 UniProtKB/TrEMBL
  ENST00000704367 ENTREZGENE
  ENST00000704367.1 UniProtKB/TrEMBL
  ENST00000704369.1 UniProtKB/TrEMBL
  ENST00000704370.1 UniProtKB/TrEMBL
  ENST00000704444.1 UniProtKB/TrEMBL
  ENST00000704445 ENTREZGENE
  ENST00000704445.1 UniProtKB/TrEMBL
  ENST00000704446.1 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182504 GTEx
HGNC ID HGNC:26244 ENTREZGENE
Human Proteome Map CEP97 Human Proteome Map
InterPro IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79598 UniProtKB/Swiss-Prot
NCBI Gene 79598 ENTREZGENE
OMIM 615864 OMIM
PANTHER CENTROSOMAL PROTEIN 97KDA, ISOFORM B-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CENTROSOMAL PROTEIN OF 97 KDA UniProtKB/TrEMBL
  PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT SDS22-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  U2 SMALL NUCLEAR RIBONUCLEOPROTEIN A UniProtKB/TrEMBL
  U2 SMALL NUCLEAR RIBONUCLEOPROTEIN A UniProtKB/TrEMBL
Pfam LRR_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162382176 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_SD22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Outer arm dynein light chain 1 UniProtKB/TrEMBL
UniProt A0A994J4D7 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J4L0 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J4M7_HUMAN UniProtKB/TrEMBL
  A0A994J522 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J704 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J715_HUMAN UniProtKB/TrEMBL
  A0A994J7E5 ENTREZGENE, UniProtKB/TrEMBL
  B4DGU8 ENTREZGENE, UniProtKB/TrEMBL
  B5MDY8 ENTREZGENE
  CEP97_HUMAN UniProtKB/Swiss-Prot
  E9PG22 ENTREZGENE, UniProtKB/TrEMBL
  F8WF91_HUMAN UniProtKB/TrEMBL
  H7C4Y5_HUMAN UniProtKB/TrEMBL
  Q8IW35 ENTREZGENE
  Q8NA71 ENTREZGENE
  Q9H5T9 ENTREZGENE
UniProt Secondary B5MDY8 UniProtKB/Swiss-Prot
  Q8NA71 UniProtKB/Swiss-Prot
  Q9H5T9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 CEP97  centrosomal protein 97    centrosomal protein 97kDa  Symbol and/or name change 5135510 APPROVED