STAG3 (STAG3 cohesin complex component) - Rat Genome Database

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Gene: STAG3 (STAG3 cohesin complex component) Homo sapiens
Analyze
Symbol: STAG3
Name: STAG3 cohesin complex component
RGD ID: 737601
HGNC Page HGNC:11356
Description: Predicted to enable chromatin binding activity. Involved in establishment of meiotic sister chromatid cohesion. Located in nucleolus and nucleoplasm. Part of meiotic cohesin complex. Implicated in primary ovarian insufficiency 8 and spermatogenic failure 61.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cohesin subunit SA-3; POF8; SA3; SCC3 homolog 3; SPGF61; stromal antigen 3; stromalin 3; stromalin-3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: STAG3L1   STAG3L2   STAG3L3   STAG3L4   STAG3L5P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387100,177,724 - 100,219,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7100,177,563 - 100,214,387 (+)EnsemblGRCh38hg38GRCh38
GRCh37799,775,347 - 99,812,010 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36799,613,474 - 99,649,946 (+)NCBINCBI36Build 36hg18NCBI36
Build 34799,420,188 - 99,456,661NCBI
Celera794,510,888 - 94,547,361 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef794,410,283 - 94,446,767 (+)NCBIHuRef
CHM1_1799,705,616 - 99,742,079 (+)NCBICHM1_1
T2T-CHM13v2.07101,417,534 - 101,459,147 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2799,135,619 - 99,172,096 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10698974   PMID:11483963   PMID:12034751   PMID:12477932   PMID:16344560   PMID:18299561   PMID:18788457   PMID:19270026   PMID:20635389   PMID:21242291   PMID:21873635   PMID:22664934  
PMID:24597867   PMID:26059840   PMID:27500726   PMID:28393351   PMID:28802712   PMID:29724914   PMID:31010829   PMID:31115363   PMID:31125047   PMID:31363903   PMID:31586073   PMID:31682730  
PMID:32409525   PMID:32634216   PMID:33039558   PMID:33637726   PMID:33980954   PMID:34497033   PMID:34828315   PMID:35503298   PMID:35941537   PMID:37828232  


Genomics

Comparative Map Data
STAG3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387100,177,724 - 100,219,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7100,177,563 - 100,214,387 (+)EnsemblGRCh38hg38GRCh38
GRCh37799,775,347 - 99,812,010 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36799,613,474 - 99,649,946 (+)NCBINCBI36Build 36hg18NCBI36
Build 34799,420,188 - 99,456,661NCBI
Celera794,510,888 - 94,547,361 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef794,410,283 - 94,446,767 (+)NCBIHuRef
CHM1_1799,705,616 - 99,742,079 (+)NCBICHM1_1
T2T-CHM13v2.07101,417,534 - 101,459,147 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2799,135,619 - 99,172,096 (+)NCBI
Stag3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395138,270,757 - 138,310,659 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5138,278,502 - 138,310,655 (+)EnsemblGRCm39 Ensembl
GRCm385138,272,514 - 138,312,397 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5138,280,240 - 138,312,393 (+)EnsemblGRCm38mm10GRCm38
MGSCv375138,721,737 - 138,753,621 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365138,510,339 - 138,542,181 (+)NCBIMGSCv36mm8
Celera5135,263,360 - 135,295,714 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map577.01NCBI
Stag3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81222,398,291 - 22,428,548 (+)NCBIGRCr8
mRatBN7.21217,284,677 - 17,314,936 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1217,284,794 - 17,314,935 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1218,251,836 - 18,281,954 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01218,875,558 - 18,905,676 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01217,928,975 - 17,959,093 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01219,599,741 - 19,630,775 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1219,599,834 - 19,630,780 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01221,656,406 - 21,686,863 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41217,865,273 - 17,896,993 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11217,854,794 - 17,886,514 (+)NCBI
Celera1219,209,251 - 19,239,357 (+)NCBICelera
Cytogenetic Map12q11NCBI
Stag3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955573602,016 - 630,936 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955573602,635 - 631,775 (-)NCBIChiLan1.0ChiLan1.0
STAG3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26118,096,086 - 118,133,316 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17166,360,718 - 166,397,948 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0792,215,064 - 92,249,202 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17105,645,413 - 105,682,220 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7105,648,425 - 105,681,850 (+)Ensemblpanpan1.1panPan2
STAG3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.169,326,402 - 9,354,049 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl69,326,448 - 9,353,204 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha611,030,377 - 11,058,041 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.069,260,281 - 9,287,741 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl69,260,338 - 9,286,897 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.169,112,910 - 9,140,199 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.069,091,601 - 9,119,271 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.069,272,833 - 9,300,317 (-)NCBIUU_Cfam_GSD_1.0
Stag3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344133,578,049 - 133,603,974 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936543432,552 - 458,112 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936543430,804 - 458,112 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STAG3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl38,175,915 - 8,211,889 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.138,175,908 - 8,211,898 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.237,310,188 - 7,346,525 (-)NCBISscrofa10.2Sscrofa10.2susScr3
STAG3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12812,853,456 - 12,893,098 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2812,853,404 - 12,891,638 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660703,388,692 - 3,427,657 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Stag3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474016,707,999 - 16,732,537 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474016,706,695 - 16,734,142 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in STAG3
104 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001282717.2(STAG3):c.291dup (p.Asn98fs) duplication Premature ovarian failure 8 [RCV001797553] Chr7:100182792..100182793 [GRCh38]
Chr7:99780415..99780416 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_001282717.2(STAG3):c.1065+1G>C single nucleotide variant not provided [RCV000523269] Chr7:100197280 [GRCh38]
Chr7:99794903 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.562del (p.Gln188fs) deletion Premature ovarian failure 8 [RCV000114367] Chr7:100188862 [GRCh38]
Chr7:99786485 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 copy number gain See cases [RCV000053573] Chr7:98288474..101259804 [GRCh38]
Chr7:97917786..100903085 [GRCh37]
Chr7:97755722..100689805 [NCBI36]
Chr7:7q21.3-22.1		 pathogenic
GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1 copy number loss See cases [RCV000054154] Chr7:99219420..100902269 [GRCh38]
Chr7:98817043..100499889 [GRCh37]
Chr7:98654979..100337825 [NCBI36]
Chr7:7q22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1 copy number loss See cases [RCV000135782] Chr7:99195836..102258175 [GRCh38]
Chr7:98793459..101718950 [GRCh37]
Chr7:98631395..101688175 [NCBI36]
Chr7:7q22.1		 pathogenic|uncertain significance
GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3 copy number gain See cases [RCV000135630] Chr7:99195836..100348063 [GRCh38]
Chr7:98793459..99945686 [GRCh37]
Chr7:98631395..99783622 [NCBI36]
Chr7:7q22.1		 likely benign
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 copy number gain See cases [RCV000138109] Chr7:99932610..102473188 [GRCh38]
Chr7:99530233..102113635 [GRCh37]
Chr7:99368169..101900640 [NCBI36]
Chr7:7q22.1		 uncertain significance
GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3 copy number gain See cases [RCV000142715] Chr7:99880388..100288453 [GRCh38]
Chr7:99478011..99886076 [GRCh37]
Chr7:99315947..99724012 [NCBI36]
Chr7:7q22.1		 likely benign|uncertain significance
NM_001282717.2(STAG3):c.1947_1948dup (p.Tyr650fs) microsatellite Premature ovarian failure 8 [RCV000210481] Chr7:100200852..100200853 [GRCh38]
Chr7:99798475..99798476 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q22.1(chr7:99724620-99972850)x3 copy number gain See cases [RCV000240398] Chr7:99724620..99972850 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1688C>A (p.Ser563Tyr) single nucleotide variant Inborn genetic diseases [RCV003244508] Chr7:100200246 [GRCh38]
Chr7:99797869 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter) single nucleotide variant Premature ovarian failure [RCV001270205] Chr7:100197781 [GRCh38]
Chr7:99795404 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_001282717.2(STAG3):c.337-2A>C single nucleotide variant not provided [RCV000521752] Chr7:100186198 [GRCh38]
Chr7:99783821 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.2776C>T (p.Arg926Ter) single nucleotide variant Abnormality of the ovary [RCV000415224]|Premature ovarian failure 8 [RCV001078177]|Premature ovarian insufficiency [RCV000415001]|not provided [RCV001782893] Chr7:100204096 [GRCh38]
Chr7:99801719 [GRCh37]
Chr7:7q22.1		 likely pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001282717.2(STAG3):c.1573+5G>A single nucleotide variant Premature ovarian failure 8 [RCV000494704] Chr7:100199372 [GRCh38]
Chr7:99796995 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_001282717.2(STAG3):c.2351G>C (p.Cys784Ser) single nucleotide variant Inborn genetic diseases [RCV003297837] Chr7:100201998 [GRCh38]
Chr7:99799621 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2012T>C (p.Val671Ala) single nucleotide variant Inborn genetic diseases [RCV003286805] Chr7:100200920 [GRCh38]
Chr7:99798543 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3002A>G (p.Asn1001Ser) single nucleotide variant Inborn genetic diseases [RCV003302524] Chr7:100205055 [GRCh38]
Chr7:99802678 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.3310C>T (p.Pro1104Ser) single nucleotide variant Inborn genetic diseases [RCV003287887] Chr7:100211082 [GRCh38]
Chr7:99808705 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2323G>A (p.Asp775Asn) single nucleotide variant Inborn genetic diseases [RCV003284624] Chr7:100201970 [GRCh38]
Chr7:99799593 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1 copy number loss not provided [RCV000682904] Chr7:98847725..102472176 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001282717.2(STAG3):c.716-104G>T single nucleotide variant not provided [RCV001665875] Chr7:100189341 [GRCh38]
Chr7:99786964 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.106A>C (p.Thr36Pro) single nucleotide variant Premature ovarian failure 8 [RCV001810093]|Spermatogenic failure 61 [RCV001810094]|not provided [RCV001541648] Chr7:100180662 [GRCh38]
Chr7:99778285 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.3081-38G>C single nucleotide variant not provided [RCV001691707] Chr7:100205189 [GRCh38]
Chr7:99802812 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1245-41A>G single nucleotide variant not provided [RCV001690373] Chr7:100198434 [GRCh38]
Chr7:99796057 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.3601-45G>A single nucleotide variant not provided [RCV001691748] Chr7:100213690 [GRCh38]
Chr7:99811313 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.3306C>G (p.Ile1102Met) single nucleotide variant not provided [RCV001574011] Chr7:100211078 [GRCh38]
Chr7:99808701 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.958A>G (p.Ile320Val) single nucleotide variant Inborn genetic diseases [RCV003244465] Chr7:100197172 [GRCh38]
Chr7:99794795 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1245-26T>C single nucleotide variant Premature ovarian failure 8 [RCV001810130]|Spermatogenic failure 61 [RCV001810131]|not provided [RCV001612107] Chr7:100198449 [GRCh38]
Chr7:99796072 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.3309G>C (p.Pro1103=) single nucleotide variant not provided [RCV000900655] Chr7:100211081 [GRCh38]
Chr7:99808704 [GRCh37]
Chr7:7q22.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001282717.2(STAG3):c.962G>A (p.Arg321His) single nucleotide variant PRIMARY OVARIAN FAILURE 8 [RCV001797149]|Premature ovarian failure 8 [RCV001072103]|Spermatogenic failure 61 [RCV001797148] Chr7:100197176 [GRCh38]
Chr7:99794799 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_001282717.2(STAG3):c.3306C>A (p.Ile1102=) single nucleotide variant STAG3-related condition [RCV003968269]|not provided [RCV000902286] Chr7:100211078 [GRCh38]
Chr7:99808701 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.2259T>A (p.Ile753=) single nucleotide variant not provided [RCV000897024] Chr7:100201824 [GRCh38]
Chr7:99799447 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.1312C>T (p.Arg438Ter) single nucleotide variant Non-obstructive azoospermia [RCV000791328]|Spermatogenic failure 61 [RCV001797138] Chr7:100198542 [GRCh38]
Chr7:99796165 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_001282717.2(STAG3):c.1262T>G (p.Leu421Arg) single nucleotide variant Non-obstructive azoospermia [RCV000791327]|Spermatogenic failure 61 [RCV001797137] Chr7:100198492 [GRCh38]
Chr7:99796115 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_001282717.2(STAG3):c.116+22T>C single nucleotide variant not provided [RCV001643350] Chr7:100180694 [GRCh38]
Chr7:99778317 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1467+3G>A single nucleotide variant STAG3-related condition [RCV003920804]|not provided [RCV000893998] Chr7:100198960 [GRCh38]
Chr7:99796583 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.615C>A (p.Ser205Arg) single nucleotide variant Inborn genetic diseases [RCV003249786] Chr7:100188916 [GRCh38]
Chr7:99786539 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1984C>T (p.Arg662Trp) single nucleotide variant Inborn genetic diseases [RCV003240364] Chr7:100200892 [GRCh38]
Chr7:99798515 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.336+193T>C single nucleotide variant not provided [RCV001684749] Chr7:100183032 [GRCh38]
Chr7:99780655 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1293A>C (p.Pro431=) single nucleotide variant Premature ovarian failure 8 [RCV001810181]|Spermatogenic failure 61 [RCV001810182]|not provided [RCV001648252] Chr7:100198523 [GRCh38]
Chr7:99796146 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.117-189C>A single nucleotide variant not provided [RCV001639435] Chr7:100181901 [GRCh38]
Chr7:99779524 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.715+180C>T single nucleotide variant not provided [RCV001676810] Chr7:100189196 [GRCh38]
Chr7:99786819 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.2301+7G>A single nucleotide variant not provided [RCV000956511] Chr7:100201873 [GRCh38]
Chr7:99799496 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.220-63G>A single nucleotide variant not provided [RCV001688682] Chr7:100182660 [GRCh38]
Chr7:99780283 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.*198A>T single nucleotide variant not provided [RCV001598316] Chr7:100214213 [GRCh38]
Chr7:99811836 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1678-155_1678-154dup duplication not provided [RCV001687413] Chr7:100200065..100200066 [GRCh38]
Chr7:99797688..99797689 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.219+71G>A single nucleotide variant not provided [RCV001636589] Chr7:100182263 [GRCh38]
Chr7:99779886 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.48G>T (p.Leu16Phe) single nucleotide variant Premature ovarian failure 8 [RCV001810155]|Spermatogenic failure 61 [RCV001810156]|not provided [RCV001639190] Chr7:100180604 [GRCh38]
Chr7:99778227 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1066-186C>G single nucleotide variant not provided [RCV001657551] Chr7:100197592 [GRCh38]
Chr7:99795215 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.867+153A>G single nucleotide variant not provided [RCV001715248] Chr7:100189749 [GRCh38]
Chr7:99787372 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1678-67A>G single nucleotide variant not provided [RCV001637861] Chr7:100200169 [GRCh38]
Chr7:99797792 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.2803-203T>C single nucleotide variant not provided [RCV001620180] Chr7:100204424 [GRCh38]
Chr7:99802047 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.337-109G>T single nucleotide variant not provided [RCV001682543] Chr7:100186091 [GRCh38]
Chr7:99783714 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.-64-97G>C single nucleotide variant not provided [RCV001677536] Chr7:100180396 [GRCh38]
Chr7:99778019 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.2700+26A>T single nucleotide variant not provided [RCV001695455] Chr7:100202616 [GRCh38]
Chr7:99800239 [GRCh37]
Chr7:7q22.1		 benign
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1 copy number loss See cases [RCV001195072] Chr7:99593346..102470275 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.2445T>A (p.Ile815=) single nucleotide variant Premature ovarian failure 8 [RCV001810139]|Spermatogenic failure 61 [RCV001810140]|not provided [RCV001616865] Chr7:100202222 [GRCh38]
Chr7:99799845 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.116+225dup duplication not provided [RCV001680994] Chr7:100180880..100180881 [GRCh38]
Chr7:99778503..99778504 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1678-156_1678-154dup duplication not provided [RCV001714115] Chr7:100200065..100200066 [GRCh38]
Chr7:99797688..99797689 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.3672+35C>G single nucleotide variant not provided [RCV001696374] Chr7:100213841 [GRCh38]
Chr7:99811464 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1571del (p.Gln524fs) deletion Premature ovarian failure 8 [RCV001078176] Chr7:100199365 [GRCh38]
Chr7:99796988 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.1573+41C>G single nucleotide variant Premature ovarian failure 8 [RCV001810282]|Spermatogenic failure 61 [RCV001810283]|not provided [RCV001710913] Chr7:100199408 [GRCh38]
Chr7:99797031 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.2803-206C>T single nucleotide variant not provided [RCV001648377] Chr7:100204421 [GRCh38]
Chr7:99802044 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.220-64C>G single nucleotide variant not provided [RCV001690490] Chr7:100182659 [GRCh38]
Chr7:99780282 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1953_1955del (p.Leu652del) deletion Non-obstructive azoospermia [RCV001698064]|Premature ovarian insufficiency [RCV001698065] Chr7:100200859..100200861 [GRCh38]
Chr7:99798482..99798484 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.1942G>A (p.Ala648Thr) single nucleotide variant Non-obstructive azoospermia [RCV001698066]|Premature ovarian insufficiency [RCV001698497] Chr7:100200850 [GRCh38]
Chr7:99798473 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.117-172_117-171dup duplication not provided [RCV001665414] Chr7:100181901..100181902 [GRCh38]
Chr7:99779524..99779525 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1762C>T (p.Leu588=) single nucleotide variant not provided [RCV001531680] Chr7:100200320 [GRCh38]
Chr7:99797943 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.2221-1G>T single nucleotide variant Premature ovarian failure 8 [RCV001335580] Chr7:100201785 [GRCh38]
Chr7:99799408 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Isolated Pierre-Robin syndrome [RCV001352649] Chr7:87477185..100333327 [GRCh37]
Chr7:7q21.12-22.1		 pathogenic
NM_001282717.2(STAG3):c.1244+134_1244+143del deletion not provided [RCV001535254] Chr7:100198299..100198308 [GRCh38]
Chr7:99795922..99795931 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.1678-154del deletion not provided [RCV001687858] Chr7:100200066 [GRCh38]
Chr7:99797689 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.3601-154G>C single nucleotide variant not provided [RCV001693724] Chr7:100213581 [GRCh38]
Chr7:99811204 [GRCh37]
Chr7:7q22.1		 benign
NM_001282717.2(STAG3):c.3106C>T (p.Gln1036Ter) single nucleotide variant not provided [RCV001783824] Chr7:100205252 [GRCh38]
Chr7:99802875 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.2291del (p.Asp764fs) deletion not provided [RCV001783823] Chr7:100201856 [GRCh38]
Chr7:99799479 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.1936dup (p.Ala646fs) duplication Spermatogenic failure 61 [RCV001797555] Chr7:100200840..100200841 [GRCh38]
Chr7:99798463..99798464 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_001282717.2(STAG3):c.2394+1G>A single nucleotide variant Spermatogenic failure 61 [RCV001797556] Chr7:100202042 [GRCh38]
Chr7:99799665 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_001282717.2(STAG3):c.1950C>A (p.Tyr650Ter) single nucleotide variant Premature ovarian failure 8 [RCV001797554] Chr7:100200858 [GRCh38]
Chr7:99798481 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_001282717.2(STAG3):c.3381_3384del (p.Glu1128fs) deletion PRIMARY OVARIAN FAILURE 8 [RCV001797557] Chr7:100211152..100211155 [GRCh38]
Chr7:99808775..99808778 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_001282717.2(STAG3):c.2627G>A (p.Gly876Glu) single nucleotide variant Premature ovarian failure 8 [RCV001839422] Chr7:100202517 [GRCh38]
Chr7:99800140 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3 copy number gain not provided [RCV001836489] Chr7:98755291..99886571 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1		 pathogenic
NC_000007.13:g.(?_98983338)_(100860555_?)del deletion not provided [RCV001877526] Chr7:98983338..100860555 [GRCh37]
Chr7:7q22.1		 pathogenic|uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.13:g.(?_98507659)_(100860555_?)dup duplication not provided [RCV003113282] Chr7:98507659..100860555 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3053G>A (p.Arg1018Gln) single nucleotide variant Inborn genetic diseases [RCV003252655] Chr7:100205106 [GRCh38]
Chr7:99802729 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2734A>T (p.Thr912Ser) single nucleotide variant Hypergonadotropic hypogonadism [RCV002287712] Chr7:100204054 [GRCh38]
Chr7:99801677 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.623A>G (p.Tyr208Cys) single nucleotide variant Hypergonadotropic hypogonadism [RCV002287711] Chr7:100188924 [GRCh38]
Chr7:99786547 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_001282717.2(STAG3):c.3369_3381del (p.Glu1124fs) deletion Premature ovarian failure 8 [RCV002289272] Chr7:100211138..100211150 [GRCh38]
Chr7:99808761..99808773 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.3142C>T (p.Pro1048Ser) single nucleotide variant Inborn genetic diseases [RCV003305065] Chr7:100205288 [GRCh38]
Chr7:99802911 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1366G>C (p.Glu456Gln) single nucleotide variant Inborn genetic diseases [RCV003256811] Chr7:100198856 [GRCh38]
Chr7:99796479 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2221-1_2225delinsAC indel Premature ovarian failure 8 [RCV002465044] Chr7:100201785..100201790 [GRCh38]
Chr7:99799408..99799413 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.3294G>T (p.Gln1098His) single nucleotide variant Inborn genetic diseases [RCV002902115] Chr7:100211066 [GRCh38]
Chr7:99808689 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2546C>T (p.Pro849Leu) single nucleotide variant Inborn genetic diseases [RCV002753442] Chr7:100202323 [GRCh38]
Chr7:99799946 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.172C>A (p.Arg58Ser) single nucleotide variant Inborn genetic diseases [RCV002974001] Chr7:100182145 [GRCh38]
Chr7:99779768 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1417G>A (p.Ala473Thr) single nucleotide variant Inborn genetic diseases [RCV002753609] Chr7:100198907 [GRCh38]
Chr7:99796530 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1267G>A (p.Asp423Asn) single nucleotide variant Inborn genetic diseases [RCV002821690] Chr7:100198497 [GRCh38]
Chr7:99796120 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.68C>T (p.Ser23Phe) single nucleotide variant Inborn genetic diseases [RCV002844202] Chr7:100180624 [GRCh38]
Chr7:99778247 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2608C>T (p.Arg870Trp) single nucleotide variant Inborn genetic diseases [RCV002977005] Chr7:100202498 [GRCh38]
Chr7:99800121 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2410A>G (p.Ser804Gly) single nucleotide variant Inborn genetic diseases [RCV002704409] Chr7:100202187 [GRCh38]
Chr7:99799810 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3356T>C (p.Leu1119Pro) single nucleotide variant Inborn genetic diseases [RCV002924103] Chr7:100211128 [GRCh38]
Chr7:99808751 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3550G>C (p.Glu1184Gln) single nucleotide variant Inborn genetic diseases [RCV002694586] Chr7:100211826 [GRCh38]
Chr7:99809449 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2099C>T (p.Ala700Val) single nucleotide variant Inborn genetic diseases [RCV002644551] Chr7:100201127 [GRCh38]
Chr7:99798750 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1330G>A (p.Ala444Thr) single nucleotide variant Inborn genetic diseases [RCV002697727] Chr7:100198560 [GRCh38]
Chr7:99796183 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.412A>G (p.Ile138Val) single nucleotide variant Inborn genetic diseases [RCV002915863] Chr7:100186275 [GRCh38]
Chr7:99783898 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2329A>T (p.Met777Leu) single nucleotide variant Inborn genetic diseases [RCV002892997] Chr7:100201976 [GRCh38]
Chr7:99799599 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1894G>C (p.Val632Leu) single nucleotide variant Inborn genetic diseases [RCV002802698] Chr7:100200802 [GRCh38]
Chr7:99798425 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.833A>C (p.Glu278Ala) single nucleotide variant Inborn genetic diseases [RCV002986649] Chr7:100189562 [GRCh38]
Chr7:99787185 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.104A>G (p.His35Arg) single nucleotide variant Inborn genetic diseases [RCV002670061] Chr7:100180660 [GRCh38]
Chr7:99778283 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2150G>A (p.Arg717His) single nucleotide variant Inborn genetic diseases [RCV002832573] Chr7:100201281 [GRCh38]
Chr7:99798904 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3447G>C (p.Arg1149Ser) single nucleotide variant Inborn genetic diseases [RCV002856078] Chr7:100211468 [GRCh38]
Chr7:99809091 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2092A>T (p.Asn698Tyr) single nucleotide variant Inborn genetic diseases [RCV002769240] Chr7:100201120 [GRCh38]
Chr7:99798743 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2434C>T (p.Pro812Ser) single nucleotide variant Inborn genetic diseases [RCV002831410] Chr7:100202211 [GRCh38]
Chr7:99799834 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.424G>A (p.Gly142Arg) single nucleotide variant Inborn genetic diseases [RCV002722554] Chr7:100186287 [GRCh38]
Chr7:99783910 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3245C>G (p.Ala1082Gly) single nucleotide variant Inborn genetic diseases [RCV003220798] Chr7:100211017 [GRCh38]
Chr7:99808640 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.59C>T (p.Ser20Phe) single nucleotide variant Inborn genetic diseases [RCV003194025] Chr7:100180615 [GRCh38]
Chr7:99778238 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1977C>G (p.Phe659Leu) single nucleotide variant Inborn genetic diseases [RCV003208531] Chr7:100200885 [GRCh38]
Chr7:99798508 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1271C>T (p.Ala424Val) single nucleotide variant Inborn genetic diseases [RCV003199366] Chr7:100198501 [GRCh38]
Chr7:99796124 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.346G>C (p.Asp116His) single nucleotide variant Inborn genetic diseases [RCV003191097] Chr7:100186209 [GRCh38]
Chr7:99783832 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1850G>A (p.Arg617His) single nucleotide variant Inborn genetic diseases [RCV003309052] Chr7:100200532 [GRCh38]
Chr7:99798155 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1 copy number loss Multiple congenital anomalies/dysmorphic syndrome [RCV003327701] Chr7:98454022..100723798 [GRCh38]
Chr7:7q22.1		 pathogenic
NM_001282717.2(STAG3):c.860G>A (p.Arg287His) single nucleotide variant Inborn genetic diseases [RCV003376430] Chr7:100189589 [GRCh38]
Chr7:99787212 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.953C>T (p.Pro318Leu) single nucleotide variant Inborn genetic diseases [RCV003351240] Chr7:100197167 [GRCh38]
Chr7:99794790 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3367A>G (p.Lys1123Glu) single nucleotide variant Inborn genetic diseases [RCV003347071] Chr7:100211139 [GRCh38]
Chr7:99808762 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.3488C>T (p.Ser1163Leu) single nucleotide variant Inborn genetic diseases [RCV003373351] Chr7:100211509 [GRCh38]
Chr7:99809132 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3584G>A (p.Arg1195Gln) single nucleotide variant Inborn genetic diseases [RCV003355891] Chr7:100211860 [GRCh38]
Chr7:99809483 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3272C>T (p.Ser1091Leu) single nucleotide variant not provided [RCV003457510] Chr7:100211044 [GRCh38]
Chr7:99808667 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.994A>G (p.Met332Val) single nucleotide variant Inborn genetic diseases [RCV003370644] Chr7:100197208 [GRCh38]
Chr7:99794831 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.1745C>G (p.Pro582Arg) single nucleotide variant Inborn genetic diseases [RCV003375172] Chr7:100200303 [GRCh38]
Chr7:99797926 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1 copy number loss not provided [RCV003482971] Chr7:99114000..101878272 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1 copy number loss not provided [RCV003482973] Chr7:99263437..100105272 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3315G>C (p.Thr1105=) single nucleotide variant not provided [RCV003423669] Chr7:100211087 [GRCh38]
Chr7:99808710 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.3633C>T (p.Arg1211=) single nucleotide variant not provided [RCV003423670] Chr7:100213767 [GRCh38]
Chr7:99811390 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.709del (p.Leu237fs) deletion STAG3-related condition [RCV003406253] Chr7:100189008 [GRCh38]
Chr7:99786631 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.1999C>T (p.Arg667Cys) single nucleotide variant not provided [RCV003423668] Chr7:100200907 [GRCh38]
Chr7:99798530 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.3409C>G (p.Gln1137Glu) single nucleotide variant not provided [RCV003433978] Chr7:100211181 [GRCh38]
Chr7:99808804 [GRCh37]
Chr7:7q22.1		 likely benign
GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1 copy number loss not specified [RCV003986701] Chr7:98396469..102108193 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.3550G>T (p.Glu1184Ter) single nucleotide variant Premature ovarian failure 8 [RCV003986045] Chr7:100211826 [GRCh38]
Chr7:99809449 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_001282717.2(STAG3):c.3399G>A (p.Leu1133=) single nucleotide variant STAG3-related condition [RCV003962092] Chr7:100211171 [GRCh38]
Chr7:99808794 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.3426C>T (p.Val1142=) single nucleotide variant STAG3-related condition [RCV003917317] Chr7:100211447 [GRCh38]
Chr7:99809070 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.3308C>T (p.Pro1103Leu) single nucleotide variant STAG3-related condition [RCV003914678] Chr7:100211080 [GRCh38]
Chr7:99808703 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.1066-9C>T single nucleotide variant STAG3-related condition [RCV003963958] Chr7:100197769 [GRCh38]
Chr7:99795392 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.1011G>A (p.Thr337=) single nucleotide variant STAG3-related condition [RCV003964284] Chr7:100197225 [GRCh38]
Chr7:99794848 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.2823G>A (p.Gln941=) single nucleotide variant STAG3-related condition [RCV003971456] Chr7:100204647 [GRCh38]
Chr7:99802270 [GRCh37]
Chr7:7q22.1		 likely benign
NM_001282717.2(STAG3):c.11C>T (p.Pro4Leu) single nucleotide variant not provided [RCV003884175] Chr7:100180567 [GRCh38]
Chr7:99778190 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_001282717.2(STAG3):c.2208G>A (p.Glu736=) single nucleotide variant STAG3-related condition [RCV003969218] Chr7:100201339 [GRCh38]
Chr7:99798962 [GRCh37]
Chr7:7q22.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5407
Count of miRNA genes:1155
Interacting mature miRNAs:1459
Transcripts:ENST00000317296, ENST00000394018, ENST00000412190, ENST00000416412, ENST00000422690, ENST00000426455, ENST00000439782, ENST00000440830, ENST00000451963, ENST00000459699, ENST00000476057, ENST00000477469, ENST00000479359, ENST00000482546, ENST00000491498, ENST00000492674, ENST00000496157
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
D7S1561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,783,571 - 99,783,662UniSTSGRCh37
Build 36799,621,507 - 99,621,598RGDNCBI36
Celera794,518,923 - 94,519,014RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,418,325 - 94,418,416UniSTS
CRA_TCAGchr7v2799,143,657 - 99,143,748UniSTS
RH47646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,810,589 - 99,810,715UniSTSGRCh37
Build 36799,648,525 - 99,648,651RGDNCBI36
Celera794,545,940 - 94,546,066RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,445,346 - 94,445,472UniSTS
CRA_TCAGchr7v2799,170,675 - 99,170,801UniSTS
GeneMap99-GB4 RH Map7511.14UniSTS
GDB:4585375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,938,621 - 99,938,738UniSTSGRCh37
GRCh37799,811,683 - 99,811,800UniSTSGRCh37
Build 36799,649,619 - 99,649,736RGDNCBI36
Celera794,668,421 - 94,668,538UniSTS
Celera794,547,034 - 94,547,151RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,446,440 - 94,446,557UniSTS
HuRef794,571,902 - 94,572,019UniSTS
CRA_TCAGchr7v2799,298,707 - 99,298,824UniSTS
CRA_TCAGchr7v2799,171,769 - 99,171,886UniSTS
RH92424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,938,691 - 99,938,813UniSTSGRCh37
GRCh37799,811,753 - 99,811,866UniSTSGRCh37
Build 36799,649,689 - 99,649,802RGDNCBI36
Celera794,668,491 - 94,668,613UniSTS
Celera794,547,104 - 94,547,217RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,446,510 - 94,446,623UniSTS
HuRef794,571,972 - 94,572,094UniSTS
CRA_TCAGchr7v2799,298,777 - 99,298,899UniSTS
CRA_TCAGchr7v2799,171,839 - 99,171,952UniSTS
GeneMap99-GB4 RH Map7511.14UniSTS
RH80607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,801,948 - 99,802,090UniSTSGRCh37
Build 36799,639,884 - 99,640,026RGDNCBI36
Celera794,537,299 - 94,537,441RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,436,705 - 94,436,847UniSTS
CRA_TCAGchr7v2799,162,034 - 99,162,176UniSTS
GeneMap99-GB4 RH Map7516.34UniSTS
SHGC-172008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,801,534 - 99,801,823UniSTSGRCh37
Build 36799,639,470 - 99,639,759RGDNCBI36
Celera794,536,885 - 94,537,174RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,436,291 - 94,436,580UniSTS
CRA_TCAGchr7v2799,161,620 - 99,161,909UniSTS
TNG Radiation Hybrid Map730676.0UniSTS
D7S3104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,792,693 - 99,792,890UniSTSGRCh37
Build 36799,630,629 - 99,630,826RGDNCBI36
Celera794,528,043 - 94,528,240RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,427,447 - 94,427,644UniSTS
CRA_TCAGchr7v2799,152,778 - 99,152,975UniSTS
SHGC-35872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377102,020,932 - 102,021,038UniSTSGRCh37
Build 367101,807,933 - 101,808,039RGDNCBI36
Celera797,033,247 - 97,033,353RGD
Cytogenetic Map7q22.1UniSTS
HuRef796,611,145 - 96,611,251UniSTS
HuRef794,415,086 - 94,415,192UniSTS
CRA_TCAGchr7v27101,381,235 - 101,381,341UniSTS
GeneMap99-G3 RH Map74630.0UniSTS
WI-13802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,806,571 - 99,806,720UniSTSGRCh37
Build 36799,644,507 - 99,644,656RGDNCBI36
Celera794,541,922 - 94,542,071RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,441,328 - 94,441,477UniSTS
CRA_TCAGchr7v2799,166,657 - 99,166,806UniSTS
GeneMap99-GB4 RH Map7516.24UniSTS
Whitehead-RH Map7474.5UniSTS
SHGC-5628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,798,309 - 99,798,438UniSTSGRCh37
Build 36799,636,245 - 99,636,374RGDNCBI36
Celera794,533,661 - 94,533,790RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,433,067 - 94,433,196UniSTS
CRA_TCAGchr7v2799,158,395 - 99,158,524UniSTS
TNG Radiation Hybrid Map730676.0UniSTS
GeneMap99-G3 RH Map74780.0UniSTS
GDB:4585356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,811,336 - 99,811,459UniSTSGRCh37
Build 36799,649,272 - 99,649,395RGDNCBI36
Celera794,546,687 - 94,546,810RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,446,093 - 94,446,216UniSTS
CRA_TCAGchr7v2799,171,422 - 99,171,545UniSTS
RH12482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,799,073 - 99,799,236UniSTSGRCh37
Build 36799,637,009 - 99,637,172RGDNCBI36
Celera794,534,425 - 94,534,588RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,433,831 - 94,433,994UniSTS
CRA_TCAGchr7v2799,159,159 - 99,159,322UniSTS
GeneMap99-GB4 RH Map7516.24UniSTS
A004W23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,799,181 - 99,799,290UniSTSGRCh37
Build 36799,637,117 - 99,637,226RGDNCBI36
Celera794,534,533 - 94,534,642RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,433,939 - 94,434,048UniSTS
CRA_TCAGchr7v2799,159,267 - 99,159,376UniSTS
GeneMap99-GB4 RH Map7516.24UniSTS
Whitehead-RH Map7474.1UniSTS
GDB:1234294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,796,778 - 99,796,910UniSTSGRCh37
Build 36799,634,714 - 99,634,846RGDNCBI36
Celera794,532,128 - 94,532,260RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,431,532 - 94,431,664UniSTS
CRA_TCAGchr7v2799,156,863 - 99,156,995UniSTS
A002N20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,798,478 - 99,798,595UniSTSGRCh37
Build 36799,636,414 - 99,636,531RGDNCBI36
Celera794,533,830 - 94,533,947RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,433,236 - 94,433,353UniSTS
CRA_TCAGchr7v2799,158,564 - 99,158,681UniSTS
GeneMap99-GB4 RH Map7516.24UniSTS
Whitehead-RH Map7474.1UniSTS
RH47305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,798,328 - 99,798,485UniSTSGRCh37
Build 36799,636,264 - 99,636,421RGDNCBI36
Celera794,533,680 - 94,533,837RGD
Cytogenetic Map7q22.1UniSTS
CRA_TCAGchr7v2799,158,414 - 99,158,571UniSTS
GeneMap99-GB4 RH Map7511.14UniSTS
D7S2074E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,798,328 - 99,798,440UniSTSGRCh37
Build 36799,636,264 - 99,636,376RGDNCBI36
Celera794,533,680 - 94,533,792RGD
Cytogenetic Map7q22.1UniSTS
HuRef794,433,086 - 94,433,198UniSTS
CRA_TCAGchr7v2799,158,414 - 99,158,526UniSTS
TNG Radiation Hybrid Map730676.0UniSTS
Stanford-G3 RH Map74780.0UniSTS
GeneMap99-GB4 RH Map7516.34UniSTS
NCBI RH Map71062.2UniSTS
GeneMap99-G3 RH Map74780.0UniSTS
STS-AA019655  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q22.1UniSTS
HuRef794,419,830 - 94,420,043UniSTS
GeneMap99-GB4 RH Map7510.19UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 47 31 2 534 2 178 64 345 5 429 43 1 163 1
Low 2299 2476 1625 570 1338 417 4117 1831 3312 353 1004 1543 167 1 1167 2573 3
Below cutoff 89 511 69 50 77 46 61 301 72 60 25 25 6 36 52 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA747738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ007798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG772730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB097403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG836278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000317296   ⟹   ENSP00000319318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,916 - 100,214,381 (+)Ensembl
RefSeq Acc Id: ENST00000394018   ⟹   ENSP00000377586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,743 - 100,214,380 (+)Ensembl
RefSeq Acc Id: ENST00000412190   ⟹   ENSP00000395039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,936 - 100,214,322 (+)Ensembl
RefSeq Acc Id: ENST00000416412   ⟹   ENSP00000409283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,866 - 100,186,297 (+)Ensembl
RefSeq Acc Id: ENST00000422690   ⟹   ENSP00000407884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,929 - 100,182,839 (+)Ensembl
RefSeq Acc Id: ENST00000426455   ⟹   ENSP00000400359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,563 - 100,214,380 (+)Ensembl
RefSeq Acc Id: ENST00000439782   ⟹   ENSP00000397067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,936 - 100,189,468 (+)Ensembl
RefSeq Acc Id: ENST00000440830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,197,474 - 100,214,383 (+)Ensembl
RefSeq Acc Id: ENST00000451963   ⟹   ENSP00000393790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,205,357 - 100,221,488 (+)Ensembl
RefSeq Acc Id: ENST00000459699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,181,378 - 100,189,596 (+)Ensembl
RefSeq Acc Id: ENST00000476057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,200,138 - 100,200,946 (+)Ensembl
RefSeq Acc Id: ENST00000477469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,197,802 - 100,199,602 (+)Ensembl
RefSeq Acc Id: ENST00000479359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,200,147 - 100,202,015 (+)Ensembl
RefSeq Acc Id: ENST00000482546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,937 - 100,180,895 (+)Ensembl
RefSeq Acc Id: ENST00000491498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,197,442 - 100,214,381 (+)Ensembl
RefSeq Acc Id: ENST00000492674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,211,659 - 100,214,382 (+)Ensembl
RefSeq Acc Id: ENST00000496157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,935 - 100,214,387 (+)Ensembl
RefSeq Acc Id: ENST00000615138   ⟹   ENSP00000477973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,918 - 100,214,381 (+)Ensembl
RefSeq Acc Id: ENST00000620100   ⟹   ENSP00000484098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,177,920 - 100,214,380 (+)Ensembl
RefSeq Acc Id: NM_001282716   ⟹   NP_001269645
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,724 - 100,214,387 (+)NCBI
HuRef794,410,092 - 94,446,767 (+)NCBI
CHM1_1799,705,425 - 99,742,079 (+)NCBI
T2T-CHM13v2.07101,417,534 - 101,454,200 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282717   ⟹   NP_001269646
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,214,381 (+)NCBI
HuRef794,410,092 - 94,446,767 (+)NCBI
CHM1_1799,705,444 - 99,742,079 (+)NCBI
T2T-CHM13v2.07101,417,728 - 101,454,194 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282718   ⟹   NP_001269647
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,214,381 (+)NCBI
HuRef794,410,092 - 94,446,767 (+)NCBI
CHM1_1799,705,444 - 99,742,079 (+)NCBI
T2T-CHM13v2.07101,417,728 - 101,454,194 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375438   ⟹   NP_001362367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,214,381 (+)NCBI
T2T-CHM13v2.07101,417,728 - 101,454,194 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012447   ⟹   NP_036579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,214,381 (+)NCBI
GRCh37799,775,186 - 99,812,010 (+)NCBI
Build 36799,613,474 - 99,649,946 (+)NCBI Archive
Celera794,510,888 - 94,547,361 (+)RGD
HuRef794,410,092 - 94,446,767 (+)NCBI
CHM1_1799,705,444 - 99,742,079 (+)NCBI
T2T-CHM13v2.07101,417,728 - 101,454,194 (+)NCBI
CRA_TCAGchr7v2799,135,619 - 99,172,096 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017011683   ⟹   XP_016867172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,219,334 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011684   ⟹   XP_016867173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,218,955 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011685   ⟹   XP_016867174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,724 - 100,218,955 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011686   ⟹   XP_016867175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,218,955 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011687   ⟹   XP_016867176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,218,955 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419786   ⟹   XP_047275742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,218,955 (+)NCBI
RefSeq Acc Id: XM_047419787   ⟹   XP_047275743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,218,955 (+)NCBI
RefSeq Acc Id: XM_047419788   ⟹   XP_047275744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,724 - 100,214,387 (+)NCBI
RefSeq Acc Id: XM_047419789   ⟹   XP_047275745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,214,387 (+)NCBI
RefSeq Acc Id: XM_047419790   ⟹   XP_047275746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,214,387 (+)NCBI
RefSeq Acc Id: XM_047419791   ⟹   XP_047275747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,214,387 (+)NCBI
RefSeq Acc Id: XM_047419792   ⟹   XP_047275748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,218,955 (+)NCBI
RefSeq Acc Id: XM_047419793   ⟹   XP_047275749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,218,955 (+)NCBI
RefSeq Acc Id: XM_047419794   ⟹   XP_047275750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,214,387 (+)NCBI
RefSeq Acc Id: XM_047419795   ⟹   XP_047275751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,214,387 (+)NCBI
RefSeq Acc Id: XM_047419796   ⟹   XP_047275752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,724 - 100,214,387 (+)NCBI
RefSeq Acc Id: XM_047419797   ⟹   XP_047275753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,918 - 100,218,955 (+)NCBI
RefSeq Acc Id: XM_047419798   ⟹   XP_047275754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,182,762 - 100,218,955 (+)NCBI
RefSeq Acc Id: XM_054357106   ⟹   XP_054213081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,458,768 (+)NCBI
RefSeq Acc Id: XM_054357107   ⟹   XP_054213082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,744 - 101,458,768 (+)NCBI
RefSeq Acc Id: XM_054357108   ⟹   XP_054213083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,458,768 (+)NCBI
RefSeq Acc Id: XM_054357109   ⟹   XP_054213084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,534 - 101,458,768 (+)NCBI
RefSeq Acc Id: XM_054357110   ⟹   XP_054213085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,458,768 (+)NCBI
RefSeq Acc Id: XM_054357111   ⟹   XP_054213086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,459,147 (+)NCBI
RefSeq Acc Id: XM_054357112   ⟹   XP_054213087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,534 - 101,454,200 (+)NCBI
RefSeq Acc Id: XM_054357113   ⟹   XP_054213088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,744 - 101,454,200 (+)NCBI
RefSeq Acc Id: XM_054357114   ⟹   XP_054213089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,454,200 (+)NCBI
RefSeq Acc Id: XM_054357115   ⟹   XP_054213090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,733 - 101,454,200 (+)NCBI
RefSeq Acc Id: XM_054357116   ⟹   XP_054213091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,458,768 (+)NCBI
RefSeq Acc Id: XM_054357117   ⟹   XP_054213092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,458,768 (+)NCBI
RefSeq Acc Id: XM_054357118   ⟹   XP_054213093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,458,768 (+)NCBI
RefSeq Acc Id: XM_054357119   ⟹   XP_054213094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,454,200 (+)NCBI
RefSeq Acc Id: XM_054357120   ⟹   XP_054213095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,454,200 (+)NCBI
RefSeq Acc Id: XM_054357121   ⟹   XP_054213096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,534 - 101,454,200 (+)NCBI
RefSeq Acc Id: XM_054357122   ⟹   XP_054213097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,417,728 - 101,458,768 (+)NCBI
RefSeq Acc Id: XM_054357123   ⟹   XP_054213098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07101,422,573 - 101,458,768 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001269645 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269646 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269647 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362367 (Get FASTA)   NCBI Sequence Viewer  
  NP_036579 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867172 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867173 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867174 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867175 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867176 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275742 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275743 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275744 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275745 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275746 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275747 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275748 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275749 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275750 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275751 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275752 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275753 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275754 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213082 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213083 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213084 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213085 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213089 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213090 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213094 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213095 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213096 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213097 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213098 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI40933 (Get FASTA)   NCBI Sequence Viewer  
  AAI46807 (Get FASTA)   NCBI Sequence Viewer  
  BAF85083 (Get FASTA)   NCBI Sequence Viewer  
  BAG63840 (Get FASTA)   NCBI Sequence Viewer  
  BAG63922 (Get FASTA)   NCBI Sequence Viewer  
  CAB59367 (Get FASTA)   NCBI Sequence Viewer  
  CAD38679 (Get FASTA)   NCBI Sequence Viewer  
  EAW76568 (Get FASTA)   NCBI Sequence Viewer  
  EAW76570 (Get FASTA)   NCBI Sequence Viewer  
  EAW76571 (Get FASTA)   NCBI Sequence Viewer  
  EAW76572 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000319318
  ENSP00000319318.5
  ENSP00000377586.2
  ENSP00000395039.2
  ENSP00000397067.1
  ENSP00000400359
  ENSP00000400359.1
  ENSP00000407884.1
  ENSP00000409283.1
  ENSP00000477973
  ENSP00000477973.1
  ENSP00000484098
  ENSP00000484098.1
GenBank Protein Q9UJ98 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_036579   ⟸   NM_012447
- Peptide Label: isoform 1
- UniProtKB: H7BYK9 (UniProtKB/Swiss-Prot),   D6W5U8 (UniProtKB/Swiss-Prot),   B4DZ10 (UniProtKB/Swiss-Prot),   A6H8Z1 (UniProtKB/Swiss-Prot),   Q8NDP3 (UniProtKB/Swiss-Prot),   Q9UJ98 (UniProtKB/Swiss-Prot),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269645   ⟸   NM_001282716
- Peptide Label: isoform 1
- UniProtKB: H7BYK9 (UniProtKB/Swiss-Prot),   D6W5U8 (UniProtKB/Swiss-Prot),   B4DZ10 (UniProtKB/Swiss-Prot),   A6H8Z1 (UniProtKB/Swiss-Prot),   Q8NDP3 (UniProtKB/Swiss-Prot),   Q9UJ98 (UniProtKB/Swiss-Prot),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269646   ⟸   NM_001282717
- Peptide Label: isoform 2
- UniProtKB: D6W5U7 (UniProtKB/TrEMBL),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269647   ⟸   NM_001282718
- Peptide Label: isoform 3
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867174   ⟸   XM_017011685
- Peptide Label: isoform X1
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867173   ⟸   XM_017011684
- Peptide Label: isoform X1
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867172   ⟸   XM_017011683
- Peptide Label: isoform X3
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867175   ⟸   XM_017011686
- Peptide Label: isoform X2
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867176   ⟸   XM_017011687
- Peptide Label: isoform X7
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001362367   ⟸   NM_001375438
- Peptide Label: isoform 2
- UniProtKB: D6W5U7 (UniProtKB/TrEMBL),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000484098   ⟸   ENST00000620100
RefSeq Acc Id: ENSP00000397067   ⟸   ENST00000439782
RefSeq Acc Id: ENSP00000400359   ⟸   ENST00000426455
RefSeq Acc Id: ENSP00000395039   ⟸   ENST00000412190
RefSeq Acc Id: ENSP00000393790   ⟸   ENST00000451963
RefSeq Acc Id: ENSP00000409283   ⟸   ENST00000416412
RefSeq Acc Id: ENSP00000477973   ⟸   ENST00000615138
RefSeq Acc Id: ENSP00000377586   ⟸   ENST00000394018
RefSeq Acc Id: ENSP00000319318   ⟸   ENST00000317296
RefSeq Acc Id: ENSP00000407884   ⟸   ENST00000422690
RefSeq Acc Id: XP_047275744   ⟸   XM_047419788
- Peptide Label: isoform X4
- UniProtKB: D6W5U7 (UniProtKB/TrEMBL),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275752   ⟸   XM_047419796
- Peptide Label: isoform X9
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275743   ⟸   XM_047419787
- Peptide Label: isoform X1
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275742   ⟸   XM_047419786
- Peptide Label: isoform X1
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275753   ⟸   XM_047419797
- Peptide Label: isoform X10
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275748   ⟸   XM_047419792
- Peptide Label: isoform X6
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275749   ⟸   XM_047419793
- Peptide Label: isoform X6
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275745   ⟸   XM_047419789
- Peptide Label: isoform X4
- UniProtKB: D6W5U7 (UniProtKB/TrEMBL),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275747   ⟸   XM_047419791
- Peptide Label: isoform X5
- UniProtKB: Q9UJ98 (UniProtKB/Swiss-Prot),   H7BYK9 (UniProtKB/Swiss-Prot),   D6W5U8 (UniProtKB/Swiss-Prot),   B4DZ10 (UniProtKB/Swiss-Prot),   A6H8Z1 (UniProtKB/Swiss-Prot),   Q8NDP3 (UniProtKB/Swiss-Prot),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275751   ⟸   XM_047419795
- Peptide Label: isoform X9
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275746   ⟸   XM_047419790
- Peptide Label: isoform X5
- UniProtKB: Q9UJ98 (UniProtKB/Swiss-Prot),   H7BYK9 (UniProtKB/Swiss-Prot),   D6W5U8 (UniProtKB/Swiss-Prot),   B4DZ10 (UniProtKB/Swiss-Prot),   A6H8Z1 (UniProtKB/Swiss-Prot),   Q8NDP3 (UniProtKB/Swiss-Prot),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275750   ⟸   XM_047419794
- Peptide Label: isoform X8
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275754   ⟸   XM_047419798
- Peptide Label: isoform X11
- UniProtKB: B4DYS8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213084   ⟸   XM_054357109
- Peptide Label: isoform X1
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213087   ⟸   XM_054357112
- Peptide Label: isoform X4
- UniProtKB: D6W5U7 (UniProtKB/TrEMBL),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213096   ⟸   XM_054357121
- Peptide Label: isoform X9
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213086   ⟸   XM_054357111
- Peptide Label: isoform X3
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213081   ⟸   XM_054357106
- Peptide Label: isoform X1
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213085   ⟸   XM_054357110
- Peptide Label: isoform X2
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213097   ⟸   XM_054357122
- Peptide Label: isoform X10
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213091   ⟸   XM_054357116
- Peptide Label: isoform X6
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213093   ⟸   XM_054357118
- Peptide Label: isoform X7
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213083   ⟸   XM_054357108
- Peptide Label: isoform X1
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213092   ⟸   XM_054357117
- Peptide Label: isoform X6
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213095   ⟸   XM_054357120
- Peptide Label: isoform X9
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213089   ⟸   XM_054357114
- Peptide Label: isoform X5
- UniProtKB: Q8NDP3 (UniProtKB/Swiss-Prot),   Q9UJ98 (UniProtKB/Swiss-Prot),   H7BYK9 (UniProtKB/Swiss-Prot),   D6W5U8 (UniProtKB/Swiss-Prot),   B4DZ10 (UniProtKB/Swiss-Prot),   A6H8Z1 (UniProtKB/Swiss-Prot),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213094   ⟸   XM_054357119
- Peptide Label: isoform X8
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213090   ⟸   XM_054357115
- Peptide Label: isoform X5
- UniProtKB: Q8NDP3 (UniProtKB/Swiss-Prot),   Q9UJ98 (UniProtKB/Swiss-Prot),   H7BYK9 (UniProtKB/Swiss-Prot),   D6W5U8 (UniProtKB/Swiss-Prot),   B4DZ10 (UniProtKB/Swiss-Prot),   A6H8Z1 (UniProtKB/Swiss-Prot),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213082   ⟸   XM_054357107
- Peptide Label: isoform X1
- UniProtKB: A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213088   ⟸   XM_054357113
- Peptide Label: isoform X4
- UniProtKB: D6W5U7 (UniProtKB/TrEMBL),   A8K8M9 (UniProtKB/TrEMBL),   B2RU25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213098   ⟸   XM_054357123
- Peptide Label: isoform X11
- UniProtKB: B4DYS8 (UniProtKB/TrEMBL)
Protein Domains
SCD   STAG

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UJ98-F1-model_v2 AlphaFold Q9UJ98 1-1225 view protein structure

Promoters
RGD ID:6805747
Promoter ID:HG_KWN:58896
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000339784,   ENST00000379577,   ENST00000394018,   NM_012447,   NM_152742,   OTTHUMT00000337610,   OTTHUMT00000338682,   OTTHUMT00000338683,   OTTHUMT00000338686,   OTTHUMT00000338733,   OTTHUMT00000338734,   OTTHUMT00000338911,   OTTHUMT00000338912,   OTTHUMT00000338913,   OTTHUMT00000338914,   OTTHUMT00000338915,   OTTHUMT00000338916,   OTTHUMT00000345878,   UC010LGR.1,   UC010LGS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36799,612,801 - 99,613,477 (-)MPROMDB
RGD ID:6806237
Promoter ID:HG_KWN:58901
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000338921,   OTTHUMT00000345879,   UC003UUB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36799,635,624 - 99,636,124 (+)MPROMDB
RGD ID:6805429
Promoter ID:HG_KWN:58903
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000338922,   OTTHUMT00000345874
Position:
Human AssemblyChrPosition (strand)Source
Build 36799,646,041 - 99,647,792 (-)MPROMDB
RGD ID:7211329
Promoter ID:EPDNEW_H11410
Type:initiation region
Name:STAG3_2
Description:stromal antigen 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11411  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,760 - 100,177,820EPDNEW
RGD ID:7211331
Promoter ID:EPDNEW_H11411
Type:initiation region
Name:STAG3_1
Description:stromal antigen 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11410  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,177,931 - 100,177,991EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11356 AgrOrtholog
COSMIC STAG3 COSMIC
Ensembl Genes ENSG00000066923 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000317296 ENTREZGENE
  ENST00000317296.9 UniProtKB/Swiss-Prot
  ENST00000394018.6 UniProtKB/Swiss-Prot
  ENST00000412190.6 UniProtKB/TrEMBL
  ENST00000416412.5 UniProtKB/TrEMBL
  ENST00000422690.5 UniProtKB/TrEMBL
  ENST00000426455 ENTREZGENE
  ENST00000426455.5 UniProtKB/Swiss-Prot
  ENST00000439782.1 UniProtKB/TrEMBL
  ENST00000615138 ENTREZGENE
  ENST00000615138.5 UniProtKB/TrEMBL
  ENST00000620100 ENTREZGENE
  ENST00000620100.5 UniProtKB/Swiss-Prot
GTEx ENSG00000066923 GTEx
HGNC ID HGNC:11356 ENTREZGENE
Human Proteome Map STAG3 Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cohesin_Scc3/SA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10734 UniProtKB/Swiss-Prot
NCBI Gene 10734 ENTREZGENE
OMIM 608489 OMIM
PANTHER COHESIN SUBUNIT SA-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11199 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SCD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36178 PharmGKB
PROSITE SCD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6H8Z1 ENTREZGENE
  A8K8M9 ENTREZGENE, UniProtKB/TrEMBL
  B2RU25 ENTREZGENE, UniProtKB/TrEMBL
  B4DYS8 ENTREZGENE, UniProtKB/TrEMBL
  B4DZ10 ENTREZGENE
  C9J3T3_HUMAN UniProtKB/TrEMBL
  C9JTG4_HUMAN UniProtKB/TrEMBL
  C9JYW5_HUMAN UniProtKB/TrEMBL
  D6W5U7 ENTREZGENE, UniProtKB/TrEMBL
  D6W5U8 ENTREZGENE
  H7BYK9 ENTREZGENE
  H7C0H6_HUMAN UniProtKB/TrEMBL
  Q8NDP3 ENTREZGENE
  Q9UJ98 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6H8Z1 UniProtKB/Swiss-Prot
  B4DZ10 UniProtKB/Swiss-Prot
  D6W5U8 UniProtKB/Swiss-Prot
  H7BYK9 UniProtKB/Swiss-Prot
  Q8NDP3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-04-24 STAG3  STAG3 cohesin complex component  STAG3  stromal antigen 3  Symbol and/or name change 19259463 PROVISIONAL