SYCE1 (synaptonemal complex central element protein 1) - Rat Genome Database

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Gene: SYCE1 (synaptonemal complex central element protein 1) Homo sapiens
Analyze
Symbol: SYCE1
Name: synaptonemal complex central element protein 1
RGD ID: 1352832
HGNC Page HGNC:28852
Description: Predicted to be involved in synaptonemal complex assembly. Predicted to be located in central element. Predicted to be active in synaptonemal complex. Implicated in primary ovarian insufficiency 12 and spermatogenic failure 15.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA108K14.6; C10orf94; cancer/testis antigen 76; CT76; FLJ99976; POF12; RP11-108K14.6; SPGF15
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810133,553,899 - 133,568,291 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10133,553,901 - 133,569,835 (-)EnsemblGRCh38hg38GRCh38
GRCh3710135,367,403 - 135,381,795 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610135,217,395 - 135,232,866 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410135,256,286 - 135,271,757NCBI
Celera10128,138,411 - 128,153,759 (+)NCBICelera
Cytogenetic Map10q26.3NCBI
HuRef10128,909,390 - 128,923,681 (-)NCBIHuRef
CHM1_110135,646,966 - 135,661,277 (-)NCBICHM1_1
T2T-CHM13v2.010134,505,424 - 134,519,736 (-)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

Phenotype Annotations     Click to see Annotation Detail View
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:11829491   PMID:15164054   PMID:15489334   PMID:15944401   PMID:16344560   PMID:17207965   PMID:21873635   PMID:24026100   PMID:24623722   PMID:24722188   PMID:25062452   PMID:25277244  
PMID:25416956   PMID:25899990   PMID:25910212   PMID:26871637   PMID:27107012   PMID:27107014   PMID:28712289   PMID:30021884   PMID:30607510   PMID:31515488   PMID:31916078   PMID:31925770  
PMID:32296183   PMID:33728612   PMID:33961781   PMID:35718780   PMID:36217029   PMID:37689310   PMID:37957469  


Genomics

Comparative Map Data
SYCE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810133,553,899 - 133,568,291 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10133,553,901 - 133,569,835 (-)EnsemblGRCh38hg38GRCh38
GRCh3710135,367,403 - 135,381,795 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610135,217,395 - 135,232,866 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410135,256,286 - 135,271,757NCBI
Celera10128,138,411 - 128,153,759 (+)NCBICelera
Cytogenetic Map10q26.3NCBI
HuRef10128,909,390 - 128,923,681 (-)NCBIHuRef
CHM1_110135,646,966 - 135,661,277 (-)NCBICHM1_1
T2T-CHM13v2.010134,505,424 - 134,519,736 (-)NCBIT2T-CHM13v2.0
Syce1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397140,357,142 - 140,367,767 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7140,357,142 - 140,367,765 (-)EnsemblGRCm39 Ensembl
GRCm387140,777,229 - 140,787,854 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7140,777,229 - 140,787,852 (-)EnsemblGRCm38mm10GRCm38
MGSCv377147,963,128 - 147,973,753 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367147,963,127 - 147,973,944 (-)NCBIMGSCv36mm8
Celera7140,569,517 - 140,580,142 (-)NCBICelera
Cytogenetic Map7F4NCBI
cM Map785.96NCBI
Syce1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81205,281,808 - 205,292,811 (-)NCBIGRCr8
mRatBN7.21195,852,171 - 195,863,174 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1195,852,172 - 195,863,174 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1204,194,591 - 204,205,587 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01211,321,496 - 211,332,490 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01203,995,349 - 204,006,343 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01213,523,638 - 213,534,641 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1213,523,639 - 213,534,641 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01220,418,169 - 220,429,340 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41200,930,362 - 200,941,365 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1193,496,215 - 193,507,224 (-)NCBICelera
Cytogenetic Map1q41NCBI
Syce1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555076,264,059 - 6,271,729 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555076,263,070 - 6,271,289 (+)NCBIChiLan1.0ChiLan1.0
SYCE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28145,695,334 - 145,719,200 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110145,700,700 - 145,849,141 (-)NCBINHGRI_mPanPan1
PanPan1.110134,866,705 - 134,878,535 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10134,866,705 - 134,878,566 (-)Ensemblpanpan1.1panPan2
SYCE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12841,149,228 - 41,157,422 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2841,149,229 - 41,157,371 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2841,241,619 - 41,249,792 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02841,824,772 - 41,832,937 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2841,824,773 - 41,832,892 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12841,305,518 - 41,313,687 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02841,295,003 - 41,303,171 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02841,697,732 - 41,705,904 (-)NCBIUU_Cfam_GSD_1.0
Syce1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244072135,830,142 - 5,838,013 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648619,723,627 - 19,727,770 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648619,723,354 - 19,731,175 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SYCE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14141,726,208 - 141,735,919 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114141,726,708 - 141,737,830 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214153,514,341 - 153,517,663 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SYCE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12653,416,791 - 53,429,688 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2653,418,202 - 53,428,756 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605441,548,799 - 41,560,744 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Syce1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473712,290,276 - 12,297,924 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473712,290,317 - 12,297,823 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SYCE1
50 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q26.3(chr10:133390058-133564028)x1 copy number loss See cases [RCV000050937] Chr10:133390058..133564028 [GRCh38]
Chr10:135203562..135377532 [GRCh37]
Chr10:135053552..135227522 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133503306-133591019)x3 copy number gain See cases [RCV000050984] Chr10:133503306..133591019 [GRCh38]
Chr10:135316810..135404523 [GRCh37]
Chr10:135166800..135254513 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133440535-133564028)x3 copy number gain See cases [RCV000050541] Chr10:133440535..133564028 [GRCh38]
Chr10:135254039..135377532 [GRCh37]
Chr10:135104029..135227522 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133440535-133564028)x1 copy number loss See cases [RCV000050545] Chr10:133440535..133564028 [GRCh38]
Chr10:135254039..135377532 [GRCh37]
Chr10:135104029..135227522 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133538868-133620674)x3 copy number gain See cases [RCV000050589] Chr10:133538868..133620674 [GRCh38]
Chr10:135352372..135434178 [GRCh37]
Chr10:135202362..135284168 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133440535-133558988)x3 copy number gain See cases [RCV000051087] Chr10:133440535..133558988 [GRCh38]
Chr10:135254039..135372492 [GRCh37]
Chr10:135104029..135222482 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133440535-133558988)x1 copy number loss See cases [RCV000051089] Chr10:133440535..133558988 [GRCh38]
Chr10:135254039..135372492 [GRCh37]
Chr10:135104029..135222482 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1 copy number loss See cases [RCV000051150] Chr10:123307835..133620674 [GRCh38]
Chr10:125067351..135434178 [GRCh37]
Chr10:125057341..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1 copy number loss See cases [RCV000051165] Chr10:133001134..133620674 [GRCh38]
Chr10:134814638..135434178 [GRCh37]
Chr10:134664628..135284168 [NCBI36]
Chr10:10q26.3		 uncertain significance
GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1 copy number loss See cases [RCV000050997] Chr10:131457361..133620674 [GRCh38]
Chr10:133255624..135434178 [GRCh37]
Chr10:133145614..135284168 [NCBI36]
Chr10:10q26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 copy number loss See cases [RCV000051069] Chr10:122265252..133620674 [GRCh38]
Chr10:124024767..135434178 [GRCh37]
Chr10:124014757..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1 copy number loss See cases [RCV000052643] Chr10:131914873..133613938 [GRCh38]
Chr10:133728377..135427442 [GRCh37]
Chr10:133578367..135277432 [NCBI36]
Chr10:10q26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1 copy number loss See cases [RCV000052644] Chr10:132475849..133620674 [GRCh38]
Chr10:134289353..135434178 [GRCh37]
Chr10:134139343..135284168 [NCBI36]
Chr10:10q26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1 copy number loss See cases [RCV000052612] Chr10:126256585..133613938 [GRCh38]
Chr10:127945154..135427442 [GRCh37]
Chr10:127935144..135277432 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127500483-133620674)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|See cases [RCV000052613] Chr10:127500483..133620674 [GRCh38]
Chr10:129298747..135434178 [GRCh37]
Chr10:129188737..135284168 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1 copy number loss See cases [RCV000052614] Chr10:129673966..133613938 [GRCh38]
Chr10:131472230..135427442 [GRCh37]
Chr10:131362220..135277432 [NCBI36]
Chr10:10q26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:129758596-133620674)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|See cases [RCV000052615] Chr10:129758596..133620674 [GRCh38]
Chr10:131556860..135434178 [GRCh37]
Chr10:131446850..135284168 [NCBI36]
Chr10:10q26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1 copy number loss See cases [RCV000052611] Chr10:123580320..133558988 [GRCh38]
Chr10:125339836..135372492 [GRCh37]
Chr10:125329826..135222482 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3		 pathogenic
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133440535-133554218)x3 copy number gain See cases [RCV000133808] Chr10:133440535..133554218 [GRCh38]
Chr10:135254039..135367722 [GRCh37]
Chr10:135104029..135217712 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133538868-133564028)x1 copy number loss See cases [RCV000133634] Chr10:133538868..133564028 [GRCh38]
Chr10:135352372..135377532 [GRCh37]
Chr10:135202362..135227522 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133503306-133620674)x3 copy number gain See cases [RCV000133628] Chr10:133503306..133620674 [GRCh38]
Chr10:135316810..135434178 [GRCh37]
Chr10:135166800..135284168 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133440535-133591019)x3 copy number gain See cases [RCV000133702] Chr10:133440535..133591019 [GRCh38]
Chr10:135254039..135404523 [GRCh37]
Chr10:135104029..135254513 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1 copy number loss See cases [RCV000133741] Chr10:125657472..133620674 [GRCh38]
Chr10:127346041..135434178 [GRCh37]
Chr10:127336031..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133536160-133620609)x3 copy number gain See cases [RCV000134732] Chr10:133536160..133620609 [GRCh38]
Chr10:135349664..135434113 [GRCh37]
Chr10:135199654..135284103 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133465763-133556331)x3 copy number gain See cases [RCV000133927] Chr10:133465763..133556331 [GRCh38]
Chr10:135279267..135369835 [GRCh37]
Chr10:135129257..135219825 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1 copy number loss See cases [RCV000134040] Chr10:126730896..133620609 [GRCh38]
Chr10:128419465..135434113 [GRCh37]
Chr10:128409455..135284103 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133540771-133556327)x3 copy number gain See cases [RCV000134058] Chr10:133540771..133556327 [GRCh38]
Chr10:135354275..135369831 [GRCh37]
Chr10:135204265..135219821 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133538858-133556327)x3 copy number gain See cases [RCV000134060] Chr10:133538858..133556327 [GRCh38]
Chr10:135352362..135369831 [GRCh37]
Chr10:135202352..135219821 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133461400-133556327)x3 copy number gain See cases [RCV000134123] Chr10:133461400..133556327 [GRCh38]
Chr10:135274904..135369831 [GRCh37]
Chr10:135124894..135219821 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133432242-133564028)x1 copy number loss See cases [RCV000134007] Chr10:133432242..133564028 [GRCh38]
Chr10:135245746..135377532 [GRCh37]
Chr10:135095736..135227522 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133429127-133556327)x3 copy number gain See cases [RCV000134070] Chr10:133429127..133556327 [GRCh38]
Chr10:135242631..135369831 [GRCh37]
Chr10:135092621..135219821 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133481635-133559017)x3 copy number gain See cases [RCV000134023] Chr10:133481635..133559017 [GRCh38]
Chr10:135295139..135372521 [GRCh37]
Chr10:135145129..135222511 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133461400-133563886)x1 copy number loss See cases [RCV000134111] Chr10:133461400..133563886 [GRCh38]
Chr10:135274904..135377390 [GRCh37]
Chr10:135124894..135227380 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133468195-133556327)x3 copy number gain See cases [RCV000134097] Chr10:133468195..133556327 [GRCh38]
Chr10:135281699..135369831 [GRCh37]
Chr10:135131689..135219821 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133429545-133564028)x3 copy number gain See cases [RCV000133984] Chr10:133429545..133564028 [GRCh38]
Chr10:135243049..135377532 [GRCh37]
Chr10:135093039..135227522 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1 copy number loss See cases [RCV000135399] Chr10:132178475..133620674 [GRCh38]
Chr10:133991979..135434178 [GRCh37]
Chr10:133841969..135284168 [NCBI36]
Chr10:10q26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133456761-133563886)x3 copy number gain See cases [RCV000134864] Chr10:133456761..133563886 [GRCh38]
Chr10:135270265..135377390 [GRCh37]
Chr10:135120255..135227380 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133456761-133563886)x1 copy number loss See cases [RCV000134865] Chr10:133456761..133563886 [GRCh38]
Chr10:135270265..135377390 [GRCh37]
Chr10:135120255..135227380 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1 copy number loss See cases [RCV000135547] Chr10:129549258..133620674 [GRCh38]
Chr10:131347522..135434178 [GRCh37]
Chr10:131237512..135284168 [NCBI36]
Chr10:10q26.3		 pathogenic|likely benign
GRCh38/hg38 10q26.3(chr10:133538868-133558988)x3 copy number gain See cases [RCV000136487] Chr10:133538868..133558988 [GRCh38]
Chr10:135352372..135372492 [GRCh37]
Chr10:135202362..135222482 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133440535-133620674)x3 copy number gain See cases [RCV000136513] Chr10:133440535..133620674 [GRCh38]
Chr10:135254039..135434178 [GRCh37]
Chr10:135104029..135284168 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133445172-133563998)x3 copy number gain See cases [RCV000136438] Chr10:133445172..133563998 [GRCh38]
Chr10:135258676..135377502 [GRCh37]
Chr10:135108666..135227492 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133440563-133558959)x3 copy number gain See cases [RCV000136473] Chr10:133440563..133558959 [GRCh38]
Chr10:135254067..135372463 [GRCh37]
Chr10:135104057..135222453 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133421259-133591046)x3 copy number gain See cases [RCV000136022] Chr10:133421259..133591046 [GRCh38]
Chr10:135234763..135404550 [GRCh37]
Chr10:135084753..135254540 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1 copy number loss See cases [RCV000136028] Chr10:124473108..133620609 [GRCh38]
Chr10:126161677..135434113 [GRCh37]
Chr10:126151667..135284103 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133482243-133563886)x3 copy number gain See cases [RCV000135979] Chr10:133482243..133563886 [GRCh38]
Chr10:135295747..135377390 [GRCh37]
Chr10:135145737..135227380 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133421283-133558988)x1 copy number loss See cases [RCV000135908] Chr10:133421283..133558988 [GRCh38]
Chr10:135234787..135372492 [GRCh37]
Chr10:135084777..135222482 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133429127-133591046)x3 copy number gain See cases [RCV000135995] Chr10:133429127..133591046 [GRCh38]
Chr10:135242631..135404550 [GRCh37]
Chr10:135092621..135254540 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133538868-133591019)x3 copy number gain See cases [RCV000136877] Chr10:133538868..133591019 [GRCh38]
Chr10:135352372..135404523 [GRCh37]
Chr10:135202362..135254513 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3 copy number gain See cases [RCV000136888] Chr10:128872419..133564028 [GRCh38]
Chr10:130670683..135377532 [GRCh37]
Chr10:130560673..135227522 [NCBI36]
Chr10:10q26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1 copy number loss See cases [RCV000137653] Chr10:124834858..133622588 [GRCh38]
Chr10:126523427..135436092 [GRCh37]
Chr10:126513417..135286082 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133465763-133564028)x3 copy number gain See cases [RCV000137224] Chr10:133465763..133564028 [GRCh38]
Chr10:135279267..135377532 [GRCh37]
Chr10:135129257..135227522 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1 copy number loss See cases [RCV000138159] Chr10:128549913..133622588 [GRCh38]
Chr10:130348177..135436092 [GRCh37]
Chr10:130238167..135286082 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic|uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1 copy number loss See cases [RCV000138160] Chr10:127849717..133622588 [GRCh38]
Chr10:129647981..135436092 [GRCh37]
Chr10:129537971..135286082 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic|likely benign
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1 copy number loss See cases [RCV000137959] Chr10:129427520..133622588 [GRCh38]
Chr10:131225784..135436092 [GRCh37]
Chr10:131115774..135286082 [NCBI36]
Chr10:10q26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133461400-133620609)x3 copy number gain See cases [RCV000138694] Chr10:133461400..133620609 [GRCh38]
Chr10:135274904..135434113 [GRCh37]
Chr10:135124894..135284103 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1 copy number loss See cases [RCV000138257] Chr10:132962729..133622588 [GRCh38]
Chr10:134776233..135436092 [GRCh37]
Chr10:134626223..135286082 [NCBI36]
Chr10:10q26.3		 pathogenic|uncertain significance
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 copy number loss See cases [RCV000138435] Chr10:122881207..133620609 [GRCh38]
Chr10:124640723..135434113 [GRCh37]
Chr10:124630713..135284103 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 copy number loss See cases [RCV000139344] Chr10:120970558..133622588 [GRCh38]
Chr10:122730071..135436092 [GRCh37]
Chr10:122720061..135286082 [NCBI36]
Chr10:10q26.12-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133540771-133620609)x3 copy number gain See cases [RCV000139143] Chr10:133540771..133620609 [GRCh38]
Chr10:135354275..135434113 [GRCh37]
Chr10:135204265..135284103 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3 copy number gain See cases [RCV000139912] Chr10:133001075..133622588 [GRCh38]
Chr10:134814579..135436092 [GRCh37]
Chr10:134664569..135286082 [NCBI36]
Chr10:10q26.3		 uncertain significance
GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1 copy number loss See cases [RCV000139588] Chr10:125021995..133620609 [GRCh38]
Chr10:126710564..135434113 [GRCh37]
Chr10:126700554..135284103 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133440549-133563886)x1 copy number loss See cases [RCV000139603] Chr10:133440549..133563886 [GRCh38]
Chr10:135254053..135377390 [GRCh37]
Chr10:135104043..135227380 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3 copy number gain See cases [RCV000141337] Chr10:125452905..133785874 [GRCh38]
Chr10:127141474..135523199 [GRCh37]
Chr10:127131464..135373189 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3 copy number gain See cases [RCV000140974] Chr10:127664168..133622588 [GRCh38]
Chr10:129462432..135436092 [GRCh37]
Chr10:129352422..135286082 [NCBI36]
Chr10:10q26.2-26.3		 likely pathogenic
GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3 copy number gain See cases [RCV000140708] Chr10:133059029..133622588 [GRCh38]
Chr10:134872533..135436092 [GRCh37]
Chr10:134722523..135286082 [NCBI36]
Chr10:10q26.3		 uncertain significance
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133465763-133558988)x3 copy number gain See cases [RCV000141495] Chr10:133465763..133558988 [GRCh38]
Chr10:135279267..135372492 [GRCh37]
Chr10:135129257..135222482 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133432242-133558988)x3 copy number gain See cases [RCV000141532] Chr10:133432242..133558988 [GRCh38]
Chr10:135245746..135372492 [GRCh37]
Chr10:135095736..135222482 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133465763-133558988)x3 copy number gain See cases [RCV000141533] Chr10:133465763..133558988 [GRCh38]
Chr10:135279267..135372492 [GRCh37]
Chr10:135129257..135222482 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133429127-133620609)x3 copy number gain See cases [RCV000142400] Chr10:133429127..133620609 [GRCh38]
Chr10:135242631..135434113 [GRCh37]
Chr10:135092621..135284103 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133461400-133563886)x3 copy number gain See cases [RCV000142404] Chr10:133461400..133563886 [GRCh38]
Chr10:135274904..135377390 [GRCh37]
Chr10:135124894..135227380 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133429127-133563886)x1 copy number loss See cases [RCV000142407] Chr10:133429127..133563886 [GRCh38]
Chr10:135242631..135377390 [GRCh37]
Chr10:135092621..135227380 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133429127-133563886)x3 copy number gain See cases [RCV000142412] Chr10:133429127..133563886 [GRCh38]
Chr10:135242631..135377390 [GRCh37]
Chr10:135092621..135227380 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133538858-133620609)x3 copy number gain See cases [RCV000142475] Chr10:133538858..133620609 [GRCh38]
Chr10:135352362..135434113 [GRCh37]
Chr10:135202352..135284103 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133468195-133563886)x3 copy number gain See cases [RCV000142423] Chr10:133468195..133563886 [GRCh38]
Chr10:135281699..135377390 [GRCh37]
Chr10:135131689..135227380 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 copy number loss See cases [RCV000142441] Chr10:121588992..133620674 [GRCh38]
Chr10:123348506..135434178 [GRCh37]
Chr10:123338496..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133528676-133620609)x3 copy number gain See cases [RCV000143041] Chr10:133528676..133620609 [GRCh38]
Chr10:135342180..135434113 [GRCh37]
Chr10:135192170..135284103 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133440549-133620609)x3 copy number gain See cases [RCV000142817] Chr10:133440549..133620609 [GRCh38]
Chr10:135254053..135434113 [GRCh37]
Chr10:135104043..135284103 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133482243-133620609)x3 copy number gain See cases [RCV000142958] Chr10:133482243..133620609 [GRCh38]
Chr10:135295747..135434113 [GRCh37]
Chr10:135145737..135284103 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 copy number loss See cases [RCV000142737] Chr10:121918547..133620674 [GRCh38]
Chr10:123678062..135434178 [GRCh37]
Chr10:123668052..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1 copy number loss See cases [RCV000143241] Chr10:127435985..133622588 [GRCh38]
Chr10:129234249..135436092 [GRCh37]
Chr10:129124239..135286082 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1 copy number loss See cases [RCV000143762] Chr10:131424682..133613639 [GRCh38]
Chr10:133222945..135427143 [GRCh37]
Chr10:133112935..135277133 [NCBI36]
Chr10:10q26.3		 likely pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1 copy number loss See cases [RCV000143623] Chr10:123986772..133613639 [GRCh38]
Chr10:125746288..135427143 [GRCh37]
Chr10:125736278..135277133 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1 copy number loss See cases [RCV000143544] Chr10:123576393..133613639 [GRCh38]
Chr10:125335909..135427143 [GRCh37]
Chr10:125325899..135277133 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1 copy number loss See cases [RCV000143554] Chr10:130625650..133613639 [GRCh38]
Chr10:132423914..135427143 [GRCh37]
Chr10:132313904..135277133 [NCBI36]
Chr10:10q26.3		 uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1 copy number loss See cases [RCV000143615] Chr10:126794646..133613639 [GRCh38]
Chr10:128483215..135427143 [GRCh37]
Chr10:128473205..135277133 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133440535-133564028)x3 copy number gain See cases [RCV000148215] Chr10:133440535..133564028 [GRCh38]
Chr10:135254039..135377532 [GRCh37]
Chr10:135104029..135227522 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133538868-133620674)x3 copy number gain See cases [RCV000148221] Chr10:133538868..133620674 [GRCh38]
Chr10:135352372..135434178 [GRCh37]
Chr10:135202362..135284168 [NCBI36]
Chr10:10q26.3		 benign
GRCh38/hg38 10q26.3(chr10:133440535-133564028)x1 copy number loss See cases [RCV000148227] Chr10:133440535..133564028 [GRCh38]
Chr10:135254039..135377532 [GRCh37]
Chr10:135104029..135227522 [NCBI36]
Chr10:10q26.3		 benign
NC_000010.11:g.133403671_133556028dup duplication Normal pregnancy [RCV000161616] Chr10:133403671..133556028 [GRCh38]
Chr10:135217175..135369532 [GRCh37]
Chr10:10q26.3		 not provided
NC_000010.11:g.133438843_133565298dup duplication Normal pregnancy [RCV000161618]|Preeclampsia [RCV000161617] Chr10:133438843..133565298 [GRCh38]
Chr10:135252347..135378802 [GRCh37]
Chr10:10q26.3		 not provided
NM_001143764.3(SYCE1):c.721C>T (p.Gln241Ter) single nucleotide variant Premature ovarian failure 12 [RCV000211464] Chr10:133555706 [GRCh38]
Chr10:135369210 [GRCh37]
Chr10:10q26.3		 pathogenic
NM_001143764.3(SYCE1):c.197-2A>G single nucleotide variant Spermatogenic failure 15 [RCV000211704] Chr10:133558953 [GRCh38]
Chr10:135372457 [GRCh37]
Chr10:10q26.3		 pathogenic
GRCh38/hg38 10q26.3(chr10:133443259-133566207)x1 copy number loss Premature ovarian failure [RCV000225185] Chr10:133443259..133566207 [GRCh38]
Chr10:135256762..135379710 [GRCh37]
Chr10:10q26.3		 likely pathogenic
GRCh38/hg38 10q26.3(chr10:133438843-133565298)x3 copy number gain Premature ovarian failure [RCV000225255] Chr10:133438843..133565298 [GRCh38]
Chr10:135252347..135378802 [GRCh37]
Chr10:10q26.3		 benign
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) copy number loss Distal 10q deletion syndrome [RCV003319590] Chr10:123477898..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 copy number loss See cases [RCV000449336] Chr10:124147428..135370736 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)x1 copy number loss See cases [RCV000447132] Chr10:128465436..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1 copy number loss See cases [RCV000446777] Chr10:132468363..135367666 [GRCh37]
Chr10:10q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q26.3(chr10:133965613-135427143)x1 copy number loss See cases [RCV000448088] Chr10:133965613..135427143 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q26.3(chr10:135345340-135427143)x1 copy number loss See cases [RCV000510406] Chr10:135345340..135427143 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q26.3(chr10:134593406-135427143)x1 copy number loss See cases [RCV000510608] Chr10:134593406..135427143 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q26.3(chr10:132354150-135427143)x3 copy number gain See cases [RCV000510589] Chr10:132354150..135427143 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1 copy number loss See cases [RCV000511570] Chr10:129825453..135427143 [GRCh37]
Chr10:10q26.2-26.3		 likely pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1 copy number loss See cases [RCV000511813] Chr10:127658004..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q26.3(chr10:134624870-135427143)x1 copy number loss See cases [RCV000511601] Chr10:134624870..135427143 [GRCh37]
Chr10:10q26.3		 likely pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001143764.3(SYCE1):c.698G>A (p.Ser233Asn) single nucleotide variant not specified [RCV004308788] Chr10:133555801 [GRCh38]
Chr10:135369305 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3 copy number gain See cases [RCV000512398] Chr10:129007673..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1 copy number loss not provided [RCV000683285] Chr10:125450893..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 copy number loss not provided [RCV000683286] Chr10:123019239..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1 copy number loss not provided [RCV000683283] Chr10:127375792..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1 copy number loss not provided [RCV000683274] Chr10:131949020..135427143 [GRCh37]
Chr10:10q26.3		 pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3		 pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NC_000010.10:g.135252327_135378761del126435 deletion Primary amenorrhea [RCV000754449] Chr10:133438823..133565257 [GRCh38]
Chr10:135252327..135378761 [GRCh37]
Chr10:10q26.3		 likely pathogenic
NC_000010.11:g.133438823_133565257dup duplication Primary amenorrhea [RCV000754450] Chr10:133438823..133565257 [GRCh38]
Chr10:135252327..135378761 [GRCh37]
Chr10:10q26.3		 uncertain significance
NC_000010.11:g.133468178_133565257dup duplication Primary amenorrhea [RCV000754452] Chr10:133468178..133565257 [GRCh38]
Chr10:135281682..135378761 [GRCh37]
Chr10:10q26.3		 uncertain significance
NC_000010.11:g.133468178_133591019dup duplication Primary amenorrhea [RCV000754453] Chr10:133468178..133591019 [GRCh38]
Chr10:135281682..135404523 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129454892-135447971)x1 copy number loss not provided [RCV000737323] Chr10:129454892..135447971 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
NC_000010.11:g.133468178_133564028dup duplication Primary amenorrhea [RCV000754451] Chr10:133468178..133564028 [GRCh38]
Chr10:135281682..135377532 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q26.3(chr10:134777671-135434303)x1 copy number loss not provided [RCV000749862] Chr10:134777671..135434303 [GRCh37]
Chr10:10q26.3		 benign
GRCh37/hg19 10q26.3(chr10:134889866-135379710)x3 copy number gain not provided [RCV000749866] Chr10:134889866..135379710 [GRCh37]
Chr10:10q26.3		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001143764.3(SYCE1):c.709G>T (p.Ala237Ser) single nucleotide variant not provided [RCV000965829] Chr10:133555790 [GRCh38]
Chr10:135369294 [GRCh37]
Chr10:10q26.3		 benign
NM_001143764.3(SYCE1):c.162G>A (p.Glu54=) single nucleotide variant not provided [RCV000882756] Chr10:133559335 [GRCh38]
Chr10:135372839 [GRCh37]
Chr10:10q26.3		 benign
NM_001143764.3(SYCE1):c.867C>G (p.Val289=) single nucleotide variant not provided [RCV000883058] Chr10:133555402 [GRCh38]
Chr10:135368906 [GRCh37]
Chr10:10q26.3		 benign
NM_001143764.3(SYCE1):c.529-5del deletion not provided [RCV000965831] Chr10:133556052 [GRCh38]
Chr10:135369556 [GRCh37]
Chr10:10q26.3		 benign
GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1 copy number loss not provided [RCV001006362] Chr10:129009772..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
NM_001143764.3(SYCE1):c.783C>T (p.His261=) single nucleotide variant not provided [RCV000903202] Chr10:133555644 [GRCh38]
Chr10:135369148 [GRCh37]
Chr10:10q26.3		 likely benign
NM_001143764.3(SYCE1):c.595+9A>G single nucleotide variant not provided [RCV000965830] Chr10:133555972 [GRCh38]
Chr10:135369476 [GRCh37]
Chr10:10q26.3		 benign
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_001143764.3(SYCE1):c.319+10G>A single nucleotide variant not provided [RCV000959893] Chr10:133558157 [GRCh38]
Chr10:135371661 [GRCh37]
Chr10:10q26.3		 benign
GRCh37/hg19 10q26.3(chr10:135079677-135427143)x4 copy number gain not provided [RCV000848040] Chr10:135079677..135427143 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.455_456del (p.Arg152fs) microsatellite not provided [RCV000796834] Chr10:133557075..133557076 [GRCh38]
Chr10:135370579..135370580 [GRCh37]
Chr10:10q26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3 copy number gain not provided [RCV000848791] Chr10:124988334..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.3(chr10:135111843-135427143)x1 copy number loss not provided [RCV000848506] Chr10:135111843..135427143 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q26.3(chr10:135158728-135427143)x1 copy number loss not provided [RCV000847103] Chr10:135158728..135427143 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.136+4G>A single nucleotide variant not provided [RCV001694044] Chr10:133560087 [GRCh38]
Chr10:135373591 [GRCh37]
Chr10:10q26.3		 benign
NM_001143764.3(SYCE1):c.374+10del deletion not provided [RCV000887878] Chr10:133557854 [GRCh38]
Chr10:135371358 [GRCh37]
Chr10:10q26.3		 benign
NM_001143764.3(SYCE1):c.326T>G (p.Leu109Arg) single nucleotide variant not provided [RCV000962104] Chr10:133557912 [GRCh38]
Chr10:135371416 [GRCh37]
Chr10:10q26.3		 benign
NM_130784.4(SYCE1):c.820C>G (p.Pro274Ala) single nucleotide variant not provided [RCV000955422] Chr10:133554319 [GRCh38]
Chr10:135367823 [GRCh37]
Chr10:10q26.3		 benign
GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1 copy number loss not provided [RCV001006364] Chr10:129381095..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
NM_001143764.3(SYCE1):c.329G>T (p.Arg110Met) single nucleotide variant not specified [RCV004198902] Chr10:133557909 [GRCh38]
Chr10:135371413 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1 copy number loss not provided [RCV001259085] Chr10:129031265..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.3(chr10:135165733-135427143)x3 copy number gain not provided [RCV001259088] Chr10:135165733..135427143 [GRCh37]
Chr10:10q26.3		 likely benign
GRCh37/hg19 10q26.3(chr10:135204187-135408132)x3 copy number gain not provided [RCV001259089] Chr10:135204187..135408132 [GRCh37]
Chr10:10q26.3		 likely benign
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178) copy number loss Global developmental delay [RCV001352664] Chr10:129483682..135434178 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
Single allele deletion Distal 10q deletion syndrome [RCV001391670] Chr10:127548166..135440251 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 copy number loss See cases [RCV001526488] Chr10:122785023..135457222 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
NM_001143764.3(SYCE1):c.449_452del (p.Lys150fs) microsatellite not provided [RCV001383577] Chr10:133557079..133557082 [GRCh38]
Chr10:135370583..135370586 [GRCh37]
Chr10:10q26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1 copy number loss See cases [RCV002285041] Chr10:129605105..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143) copy number loss not specified [RCV002052902] Chr10:128465436..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) copy number loss not specified [RCV002052895] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143) copy number loss not specified [RCV002052908] Chr10:129914228..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NC_000010.11:g.133346605_133601248dup duplication not provided [RCV001839379] Chr10:133346605..133601248 [GRCh38]
Chr10:10q26.3		 uncertain significance
NC_000010.10:g.(?_134598420)_(135373622_?)del deletion not provided [RCV001975099] Chr10:134598420..135373622 [GRCh37]
Chr10:10q26.3		 pathogenic
NC_000010.10:g.(?_134916201)_(135439108_?)del deletion not provided [RCV001972520] Chr10:134916201..135439108 [GRCh37]
Chr10:10q26.3		 pathogenic
NC_000010.10:g.(?_134598420)_(135373622_?)dup duplication not provided [RCV003113881] Chr10:134598420..135373622 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3 copy number gain See cases [RCV002292400] Chr10:127198625..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1 copy number loss See cases [RCV002292397] Chr10:126914469..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
NM_001143764.3(SYCE1):c.884G>A (p.Ser295Asn) single nucleotide variant not specified [RCV004085918] Chr10:133555385 [GRCh38]
Chr10:135368889 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.83C>T (p.Thr28Met) single nucleotide variant not specified [RCV004183872] Chr10:133560144 [GRCh38]
Chr10:135373648 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.65A>T (p.Lys22Met) single nucleotide variant not specified [RCV004160339] Chr10:133565465 [GRCh38]
Chr10:135378969 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.115A>G (p.Met39Val) single nucleotide variant not specified [RCV004098650] Chr10:133560112 [GRCh38]
Chr10:135373616 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.778C>T (p.Arg260Cys) single nucleotide variant not specified [RCV004141665] Chr10:133555649 [GRCh38]
Chr10:135369153 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.609G>C (p.Lys203Asn) single nucleotide variant not specified [RCV004213957] Chr10:133555890 [GRCh38]
Chr10:135369394 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.13T>A (p.Ser5Thr) single nucleotide variant not specified [RCV004236911] Chr10:133565517 [GRCh38]
Chr10:135379021 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.175C>T (p.Arg59Trp) single nucleotide variant not specified [RCV004206411] Chr10:133559322 [GRCh38]
Chr10:135372826 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.622G>A (p.Asp208Asn) single nucleotide variant not specified [RCV004133221] Chr10:133555877 [GRCh38]
Chr10:135369381 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.512A>T (p.Asp171Val) single nucleotide variant not specified [RCV004134799] Chr10:133556775 [GRCh38]
Chr10:135370279 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 copy number loss not provided [RCV003222684] Chr10:122610933..135439810 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
NM_001143764.3(SYCE1):c.1036G>A (p.Glu346Lys) single nucleotide variant not specified [RCV004254423] Chr10:133555012 [GRCh38]
Chr10:135368516 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1 copy number loss Distal 10q deletion syndrome [RCV003329543] Chr10:124895517..135440296 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
NM_001143764.3(SYCE1):c.34C>T (p.Pro12Ser) single nucleotide variant not specified [RCV004355002] Chr10:133565496 [GRCh38]
Chr10:135379000 [GRCh37]
Chr10:10q26.3		 uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NC_000010.11:g.133568329dup duplication not provided [RCV003456730] Chr10:133568326..133568327 [GRCh38]
Chr10:135381830..135381831 [GRCh37]
Chr10:10q26.3		 likely benign
NM_001143764.3(SYCE1):c.720G>A (p.Val240=) single nucleotide variant not provided [RCV003394650] Chr10:133555707 [GRCh38]
Chr10:135369211 [GRCh37]
Chr10:10q26.3		 likely benign
NC_000010.11:g.133568400C>T single nucleotide variant not provided [RCV003389974] Chr10:133568400 [GRCh38]
Chr10:135381904 [GRCh37]
Chr10:10q26.3		 benign
GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1 copy number loss not provided [RCV003483108] Chr10:128925940..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1 copy number loss not provided [RCV003483110] Chr10:133435524..135427143 [GRCh37]
Chr10:10q26.3		 uncertain significance
NC_000010.11:g.133568422C>T single nucleotide variant not provided [RCV003394651] Chr10:133568422 [GRCh38]
Chr10:135381926 [GRCh37]
Chr10:10q26.3		 likely benign
GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1 copy number loss Distal 10q deletion syndrome [RCV003458182] Chr10:128289206..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.3(chr10:135053180-135381952)x3 copy number gain not provided [RCV003456733] Chr10:135053180..135381952 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.374+8C>G single nucleotide variant SYCE1-related disorder [RCV003939734] Chr10:133557856 [GRCh38]
Chr10:135371360 [GRCh37]
Chr10:10q26.3		 likely benign
GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1 copy number loss not specified [RCV003986883] Chr10:131398569..135427143 [GRCh37]
Chr10:10q26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1 copy number loss not specified [RCV003986904] Chr10:125987494..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1 copy number loss not specified [RCV003986878] Chr10:126127397..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1 copy number loss not provided [RCV004442821] Chr10:122331280..135426386 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1 copy number loss not provided [RCV003885450] Chr10:131299771..135441274 [GRCh37]
Chr10:10q26.3		 pathogenic
GRCh37/hg19 10q26.3(chr10:135193503-135412582)x1 copy number loss not provided [RCV003885451] Chr10:135193503..135412582 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.528C>T (p.His176=) single nucleotide variant SYCE1-related disorder [RCV003977076] Chr10:133556759 [GRCh38]
Chr10:135370263 [GRCh37]
Chr10:10q26.3		 likely benign
NM_001143764.3(SYCE1):c.320-10C>T single nucleotide variant SYCE1-related disorder [RCV003981444] Chr10:133557928 [GRCh38]
Chr10:135371432 [GRCh37]
Chr10:10q26.3		 likely benign
NM_001143764.3(SYCE1):c.1005C>T (p.Leu335=) single nucleotide variant SYCE1-related disorder [RCV003977135] Chr10:133555043 [GRCh38]
Chr10:135368547 [GRCh37]
Chr10:10q26.3		 likely benign
NM_130784.4(SYCE1):c.811-4A>G single nucleotide variant SYCE1-related disorder [RCV003951519] Chr10:133554332 [GRCh38]
Chr10:135367836 [GRCh37]
Chr10:10q26.3		 likely benign
NM_001143764.3(SYCE1):c.539G>A (p.Arg180Gln) single nucleotide variant not specified [RCV004670803] Chr10:133556037 [GRCh38]
Chr10:135369541 [GRCh37]
Chr10:10q26.3		 likely benign
NM_001143764.3(SYCE1):c.910G>A (p.Gly304Arg) single nucleotide variant not specified [RCV004681798] Chr10:133555359 [GRCh38]
Chr10:135368863 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_001143764.3(SYCE1):c.1021C>A (p.Pro341Thr) single nucleotide variant not specified [RCV004681799] Chr10:133555027 [GRCh38]
Chr10:135368531 [GRCh37]
Chr10:10q26.3		 uncertain significance
NM_130784.4(SYCE1):c.-36+68C>G single nucleotide variant not provided [RCV004722454] Chr10:133568120 [GRCh38]
Chr10:135381624 [GRCh37]
Chr10:10q26.3		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR26A2hsa-miR-26a-2-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:688
Count of miRNA genes:403
Interacting mature miRNAs:434
Transcripts:ENST00000303903, ENST00000343131, ENST00000368517, ENST00000432597, ENST00000479535
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
G65691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,384,166 - 135,384,474UniSTSGRCh37
GRCh3710135,239,371 - 135,239,679UniSTSGRCh37
Build 3610135,089,361 - 135,089,669RGDNCBI36
Celera10128,136,813 - 128,137,121RGD
Celera10128,278,161 - 128,278,469UniSTS
Cytogenetic Map10q26.3UniSTS
HuRef10128,781,571 - 128,781,879UniSTS
HuRef10128,926,056 - 128,926,364UniSTS
RH47563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,383,533 - 135,383,667UniSTSGRCh37
GRCh3710135,238,738 - 135,238,872UniSTSGRCh37
Build 3610135,088,728 - 135,088,862RGDNCBI36
Celera10128,278,968 - 128,279,102UniSTS
Celera10128,137,620 - 128,137,754RGD
Cytogenetic Map10q26.3UniSTS
HuRef10128,925,423 - 128,925,557UniSTS
GeneMap99-GB4 RH Map10561.05UniSTS
NCBI RH Map101382.8UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1200 2269 2651 2110 4590 1537 1977 2 477 1170 325 1959 5901 5503 21 3630 632 1548 1396 162

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC245077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY027807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY027808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB053356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB303602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB336153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ901041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000303903   ⟹   ENSP00000303978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,554,290 - 133,565,583 (-)Ensembl
Ensembl Acc Id: ENST00000343131   ⟹   ENSP00000341282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,554,847 - 133,565,583 (-)Ensembl
Ensembl Acc Id: ENST00000368517   ⟹   ENSP00000357503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,553,901 - 133,568,291 (-)Ensembl
Ensembl Acc Id: ENST00000432597   ⟹   ENSP00000411779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,567,798 - 133,569,835 (-)Ensembl
Ensembl Acc Id: ENST00000479535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,553,901 - 133,565,583 (-)Ensembl
RefSeq Acc Id: NM_001143763   ⟹   NP_001137235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,553,899 - 133,565,583 (-)NCBI
GRCh3710135,367,404 - 135,381,795 (-)ENTREZGENE
Celera10128,138,411 - 128,153,759 (+)RGD
HuRef10128,909,390 - 128,923,681 (-)ENTREZGENE
CHM1_110135,646,966 - 135,658,679 (-)NCBI
T2T-CHM13v2.010134,505,424 - 134,517,087 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001143764   ⟹   NP_001137236
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,554,847 - 133,565,583 (-)NCBI
T2T-CHM13v2.010134,506,372 - 134,517,087 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130784   ⟹   NP_570140
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,553,899 - 133,568,291 (-)NCBI
GRCh3710135,367,404 - 135,381,795 (-)ENTREZGENE
Build 3610135,217,395 - 135,232,866 (-)NCBI Archive
Celera10128,138,411 - 128,153,759 (+)RGD
HuRef10128,909,390 - 128,923,681 (-)ENTREZGENE
CHM1_110135,646,966 - 135,661,277 (-)NCBI
T2T-CHM13v2.010134,505,424 - 134,519,736 (-)NCBI
Sequence:
RefSeq Acc Id: NP_570140   ⟸   NM_130784
- Peptide Label: isoform 1
- UniProtKB: A0A384NQ41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001137235   ⟸   NM_001143763
- Peptide Label: isoform 3
- UniProtKB: A0A0B4J1R9 (UniProtKB/TrEMBL),   A0A384NQ41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001137236   ⟸   NM_001143764
- Peptide Label: isoform 4
- UniProtKB: Q9BWU3 (UniProtKB/Swiss-Prot),   Q8N0S2 (UniProtKB/Swiss-Prot),   B2RC80 (UniProtKB/Swiss-Prot),   Q9BWU4 (UniProtKB/Swiss-Prot),   A0A384NQ41 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000411779   ⟸   ENST00000432597
Ensembl Acc Id: ENSP00000357503   ⟸   ENST00000368517
Ensembl Acc Id: ENSP00000303978   ⟸   ENST00000303903
Ensembl Acc Id: ENSP00000341282   ⟸   ENST00000343131

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N0S2-F1-model_v2 AlphaFold Q8N0S2 1-351 view protein structure

Promoters
RGD ID:7219087
Promoter ID:EPDNEW_H15288
Type:initiation region
Name:SYCE1_1
Description:synaptonemal complex central element protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15289  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,565,554 - 133,565,614EPDNEW
RGD ID:7219085
Promoter ID:EPDNEW_H15289
Type:initiation region
Name:SYCE1_2
Description:synaptonemal complex central element protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15288  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,569,420 - 133,569,480EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28852 AgrOrtholog
COSMIC SYCE1 COSMIC
Ensembl Genes ENSG00000171772 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000303903 ENTREZGENE
  ENST00000303903.10 UniProtKB/TrEMBL
  ENST00000343131 ENTREZGENE
  ENST00000343131.7 UniProtKB/Swiss-Prot
  ENST00000368517 ENTREZGENE
  ENST00000368517.7 UniProtKB/Swiss-Prot
  ENST00000432597.3 UniProtKB/TrEMBL
GTEx ENSG00000171772 GTEx
HGNC ID HGNC:28852 ENTREZGENE
Human Proteome Map SYCE1 Human Proteome Map
InterPro Shadoo UniProtKB/TrEMBL
  SYCE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:93426 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 93426 ENTREZGENE
OMIM 611486 OMIM
PANTHER PTHR21731 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR28552 UniProtKB/TrEMBL
  SHADOW OF PRION PROTEIN UniProtKB/TrEMBL
  SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Shadoo UniProtKB/TrEMBL
  SYCE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134876767 PharmGKB
UniProt A0A0A0MT28_HUMAN UniProtKB/TrEMBL
  A0A0B4J1R9 ENTREZGENE, UniProtKB/TrEMBL
  A0A384NQ41 ENTREZGENE, UniProtKB/TrEMBL
  B2RC80 ENTREZGENE
  Q8N0S2 ENTREZGENE
  Q9BWU3 ENTREZGENE
  Q9BWU4 ENTREZGENE
  SYCE1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RC80 UniProtKB/Swiss-Prot
  Q9BWU3 UniProtKB/Swiss-Prot
  Q9BWU4 UniProtKB/Swiss-Prot