JAM3 (junctional adhesion molecule 3) - Rat Genome Database

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Gene: JAM3 (junctional adhesion molecule 3) Homo sapiens
Analyze
Symbol: JAM3
Name: junctional adhesion molecule 3
RGD ID: 1346212
HGNC Page HGNC:15532
Description: Enables cell-cell adhesion mediator activity and integrin binding activity. Involved in several processes, including apical protein localization; hematopoietic stem cell migration to bone marrow; and negative regulation of integrin activation. Acts upstream of or within positive regulation of cellular extravasation and positive regulation of membrane permeability. Located in several cellular components, including cell-cell contact zone; desmosome; and microvillus. Part of filamentous actin and protein complex involved in cell adhesion. Colocalizes with bicellular tight junction. Biomarker of systemic scleroderma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ14529; JAM-2; JAM-3; JAM-C; JAMC; junctional adhesion molecule C
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811134,069,072 - 134,152,001 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11134,069,071 - 134,152,001 (+)EnsemblGRCh38hg38GRCh38
GRCh3711133,938,967 - 134,021,896 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611133,444,030 - 133,526,861 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411133,444,029 - 133,526,858NCBI
Celera11131,112,218 - 131,194,832 (+)NCBICelera
Cytogenetic Map11q25NCBI
HuRef11129,893,248 - 129,976,188 (+)NCBIHuRef
CHM1_111133,826,755 - 133,908,474 (+)NCBICHM1_1
T2T-CHM13v2.011134,112,013 - 134,194,140 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetohydrazide  (ISO)
aconitine  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
anthracen-2-amine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
clobetasol  (ISO)
cobalt dichloride  (EXP)
Cuprizon  (EXP,ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diethyl maleate  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
fipronil  (ISO)
fonofos  (EXP)
fulvestrant  (EXP)
gemcitabine  (EXP)
Heliotrine  (ISO)
indometacin  (EXP)
Lasiocarpine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
methapyrilene  (EXP)
methylmercury(1+)  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
parathion  (EXP)
perfluorooctanoic acid  (EXP)
senecionine  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (ISO)
T-2 toxin  (EXP)
tamoxifen  (ISO)
terbufos  (EXP)
tert-butyl hydroperoxide  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
tributylstannane  (EXP)
Tributyltin oxide  (EXP)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tunicamycin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The spatiotemporal localization of JAM-C following sciatic nerve crush in adult rats. Avari P, etal., Brain Behav. 2012 Jul;2(4):402-14. doi: 10.1002/brb3.63.
2. Targeting of junctional adhesion molecule-C inhibits experimental choroidal neovascularization. Hou X, etal., Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1584-91. doi: 10.1167/iovs.11-9005. Print 2012 Mar.
3. Antibody against junctional adhesion molecule-C inhibits angiogenesis and tumor growth. Lamagna C, etal., Cancer Res. 2005 Jul 1;65(13):5703-10.
4. Junctional adhesion molecules (JAM)-B and -C contribute to leukocyte extravasation to the skin and mediate cutaneous inflammation. Ludwig RJ, etal., J Invest Dermatol. 2005 Nov;125(5):969-76.
5. Differential expression of junctional adhesion molecules in different stages of systemic sclerosis. Manetti M, etal., Arthritis Rheum. 2013 Jan;65(1):247-57. doi: 10.1002/art.37712.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. The proadhesive phenotype of systemic sclerosis skin promotes myeloid cell adhesion via ICAM-1 and VCAM-1. Rabquer BJ, etal., Rheumatology (Oxford). 2009 Jul;48(7):734-40. doi: 10.1093/rheumatology/kep091. Epub 2009 May 13.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:11590146   PMID:11739175   PMID:11823489   PMID:11944976   PMID:12070135   PMID:12208882   PMID:12477932   PMID:12810109   PMID:12953056   PMID:12975309   PMID:14702039  
PMID:15194813   PMID:15340161   PMID:15485832   PMID:15489334   PMID:15811349   PMID:15879142   PMID:16118203   PMID:16195363   PMID:16303743   PMID:16410001   PMID:16916751   PMID:17057644  
PMID:17116731   PMID:17227766   PMID:17429428   PMID:17612407   PMID:17625065   PMID:17822725   PMID:18048693   PMID:18821692   PMID:19060272   PMID:19143587   PMID:19204148   PMID:19308021  
PMID:19461049   PMID:19740376   PMID:19913121   PMID:20135068   PMID:20592283   PMID:20628086   PMID:21109224   PMID:21593193   PMID:21796628   PMID:21873635   PMID:21982860   PMID:23221386  
PMID:23255084   PMID:23277282   PMID:23825230   PMID:24357068   PMID:24584816   PMID:26311310   PMID:26439863   PMID:26517242   PMID:26598620   PMID:26841848   PMID:27256571   PMID:27442505  
PMID:28196865   PMID:28203682   PMID:28972073   PMID:28986522   PMID:29180619   PMID:29725250   PMID:30194290   PMID:30226554   PMID:30280653   PMID:30639242   PMID:31540324   PMID:31926946  
PMID:32296183   PMID:32552912   PMID:32576279   PMID:32816855   PMID:33961781   PMID:34079125   PMID:34159711   PMID:34432599   PMID:34861679   PMID:35032792   PMID:35271311   PMID:35818586  
PMID:35844135   PMID:35871541   PMID:36461092  


Genomics

Comparative Map Data
JAM3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811134,069,072 - 134,152,001 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11134,069,071 - 134,152,001 (+)EnsemblGRCh38hg38GRCh38
GRCh3711133,938,967 - 134,021,896 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611133,444,030 - 133,526,861 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411133,444,029 - 133,526,858NCBI
Celera11131,112,218 - 131,194,832 (+)NCBICelera
Cytogenetic Map11q25NCBI
HuRef11129,893,248 - 129,976,188 (+)NCBIHuRef
CHM1_111133,826,755 - 133,908,474 (+)NCBICHM1_1
T2T-CHM13v2.011134,112,013 - 134,194,140 (+)NCBIT2T-CHM13v2.0
Jam3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39927,008,680 - 27,066,739 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl927,008,680 - 27,066,717 (-)EnsemblGRCm39 Ensembl
GRCm38927,097,384 - 27,155,421 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl927,097,384 - 27,155,421 (-)EnsemblGRCm38mm10GRCm38
MGSCv37926,904,969 - 26,962,965 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36926,846,830 - 26,904,826 (-)NCBIMGSCv36mm8
Celera924,355,390 - 24,413,352 (-)NCBICelera
Cytogenetic Map9A4NCBI
Jam3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2825,508,461 - 25,569,306 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl825,507,057 - 25,569,355 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx829,550,421 - 29,611,261 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0827,844,708 - 27,905,552 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0825,724,719 - 25,785,571 (-)NCBIRnor_WKY
Rnor_6.0828,147,110 - 28,208,466 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl828,147,111 - 28,208,466 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0828,166,275 - 28,227,631 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4826,697,127 - 26,758,579 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1826,697,127 - 26,758,579 (-)NCBI
Celera826,995,820 - 27,056,659 (-)NCBICelera
Cytogenetic Map8q13NCBI
Jam3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541234,901,681 - 34,967,394 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541234,901,850 - 34,967,394 (+)NCBIChiLan1.0ChiLan1.0
JAM3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111132,783,580 - 132,864,657 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11132,783,580 - 132,864,657 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011128,916,024 - 129,006,497 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
JAM3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.151,082,619 - 1,165,188 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl51,084,560 - 1,165,121 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha51,202,269 - 1,285,185 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.051,038,590 - 1,121,616 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl51,038,594 - 1,121,627 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.151,071,730 - 1,155,064 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.051,072,117 - 1,155,128 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.051,109,856 - 1,192,622 (-)NCBIUU_Cfam_GSD_1.0
Jam3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947115,840,860 - 115,913,401 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366841,692,089 - 1,762,087 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049366841,689,594 - 1,762,066 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JAM3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl960,613,400 - 60,738,924 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1960,629,245 - 60,738,979 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2967,205,386 - 67,284,770 (+)NCBISscrofa10.2Sscrofa10.2susScr3
JAM3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11125,136,963 - 125,211,424 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666043831,362 - 904,938 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Jam3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248128,643,921 - 8,707,351 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248128,644,002 - 8,707,257 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in JAM3
86 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032801.5(JAM3):c.612+1G>T single nucleotide variant Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV000023581] Chr11:134144995 [GRCh38]
Chr11:134014890 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.656G>A (p.Cys219Tyr) single nucleotide variant Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV000034812] Chr11:134145989 [GRCh38]
Chr11:134015884 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.346G>A (p.Glu116Lys) single nucleotide variant Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV000034813] Chr11:134144330 [GRCh38]
Chr11:134014225 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.2T>G (p.Met1Arg) single nucleotide variant Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV000034814] Chr11:134069085 [GRCh38]
Chr11:133938980 [GRCh37]
Chr11:11q25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1 copy number loss See cases [RCV000050843] Chr11:127604660..134998454 [GRCh38]
Chr11:127474555..134868348 [GRCh37]
Chr11:126979765..134373558 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3 copy number gain See cases [RCV000051162] Chr11:126445805..134998513 [GRCh38]
Chr11:126315700..134868407 [GRCh37]
Chr11:125820910..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1 copy number loss See cases [RCV000052741] Chr11:126433740..135040246 [GRCh38]
Chr11:126303635..134910140 [GRCh37]
Chr11:125808845..134415350 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1 copy number loss See cases [RCV000052742] Chr11:129700536..134998513 [GRCh38]
Chr11:129570431..134868407 [GRCh37]
Chr11:129075641..134373617 [NCBI36]
Chr11:11q24.3-25		 pathogenic
GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1 copy number loss See cases [RCV000052743] Chr11:130060292..135040246 [GRCh38]
Chr11:129930187..134910140 [GRCh37]
Chr11:129435397..134415350 [NCBI36]
Chr11:11q24.3-25		 pathogenic
GRCh38/hg38 11q25(chr11:131587470-134609295)x1 copy number loss See cases [RCV000052744] Chr11:131587470..134609295 [GRCh38]
Chr11:131457364..134479189 [GRCh37]
Chr11:130962574..133984399 [NCBI36]
Chr11:11q25		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q25(chr11:131311972-134998654)x3 copy number gain See cases [RCV000053659] Chr11:131311972..134998654 [GRCh38]
Chr11:131181867..134868548 [GRCh37]
Chr11:130687077..134373758 [NCBI36]
Chr11:11q25		 pathogenic
NM_032801.4(JAM3):c.272G>A (p.Arg91His) single nucleotide variant Malignant melanoma [RCV000069259] Chr11:134144256 [GRCh38]
Chr11:134014151 [GRCh37]
Chr11:133519361 [NCBI36]
Chr11:11q25		 not provided
GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1 copy number loss See cases [RCV000663397] Chr11:125937383..134934063 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q25(chr11:132936725-134998513)x1 copy number loss See cases [RCV000133999] Chr11:132936725..134998513 [GRCh38]
Chr11:132806620..134868407 [GRCh37]
Chr11:132311830..134373617 [NCBI36]
Chr11:11q25		 pathogenic
GRCh37/hg19 11q25(chr11:133923605-134934063)x3 copy number gain See cases [RCV000515562] Chr11:133923605..134934063 [GRCh37]
Chr11:11q25		 uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1 copy number loss See cases [RCV000136595] Chr11:126046358..134998513 [GRCh38]
Chr11:125916253..134868407 [GRCh37]
Chr11:125421463..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1 copy number loss See cases [RCV000136612] Chr11:125241472..134998513 [GRCh38]
Chr11:125111368..134868407 [GRCh37]
Chr11:124616578..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q25(chr11:131212028-135075271)x1 copy number loss See cases [RCV000137583] Chr11:131212028..135075271 [GRCh38]
Chr11:131081923..134945165 [GRCh37]
Chr11:130587133..134450377 [NCBI36]
Chr11:11q25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1 copy number loss See cases [RCV000137719] Chr11:127564482..135075271 [GRCh38]
Chr11:127434377..134945165 [GRCh37]
Chr11:126939587..134450377 [NCBI36]
Chr11:11q24.2-25		 pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1 copy number loss See cases [RCV000138163] Chr11:126046358..135075271 [GRCh38]
Chr11:125916253..134945165 [GRCh37]
Chr11:125421463..134450377 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1 copy number loss See cases [RCV000138675] Chr11:124940059..135075271 [GRCh38]
Chr11:124809955..134945165 [GRCh37]
Chr11:124315165..134450377 [NCBI36]
Chr11:11q24.2-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|likely benign
GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1 copy number loss See cases [RCV000139117] Chr11:126199589..135075271 [GRCh38]
Chr11:126069484..134945165 [GRCh37]
Chr11:125574694..134450377 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1 copy number loss See cases [RCV000142626] Chr11:130706504..135075271 [GRCh38]
Chr11:130576399..134945165 [GRCh37]
Chr11:130081609..134450377 [NCBI36]
Chr11:11q24.3-25		 pathogenic
GRCh38/hg38 11q25(chr11:133169303-135068576)x1 copy number loss See cases [RCV000143290] Chr11:133169303..135068576 [GRCh38]
Chr11:133039198..134938470 [GRCh37]
Chr11:132544408..134443680 [NCBI36]
Chr11:11q25		 likely pathogenic
GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1 copy number loss See cases [RCV000143755] Chr11:127915964..135068576 [GRCh38]
Chr11:127785859..134938470 [GRCh37]
Chr11:127291069..134443680 [NCBI36]
Chr11:11q24.3-25		 pathogenic
GRCh38/hg38 11q25(chr11:132588975-135068576)x1 copy number loss See cases [RCV000143655] Chr11:132588975..135068576 [GRCh38]
Chr11:132458870..134938470 [GRCh37]
Chr11:131964080..134443680 [NCBI36]
Chr11:11q25		 uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q25(chr11:134019210-134746628)x3 copy number gain See cases [RCV000240041] Chr11:134019210..134746628 [GRCh37]
Chr11:11q25		 uncertain significance
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1 copy number loss See cases [RCV000240313] Chr11:126631558..134868407 [GRCh37]
Chr11:11q24.2-25		 pathogenic
NM_032801.5(JAM3):c.77-45G>A single nucleotide variant not provided [RCV001566554] Chr11:134139806 [GRCh38]
Chr11:134009701 [GRCh37]
Chr11:11q25		 likely benign
GRCh37/hg19 11q24.2-25(chr11:125446101-134904063) copy number loss 11q partial monosomy syndrome [RCV000767602] Chr11:125446101..134904063 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q25(chr11:133325079-134157243) copy number loss 11q partial monosomy syndrome [RCV000767603] Chr11:133325079..134157243 [GRCh37]
Chr11:11q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:125662934-134938470)x1 copy number loss See cases [RCV000447129] Chr11:125662934..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q24.3-25(chr11:129721809-134938470)x1 copy number loss See cases [RCV000511052] Chr11:129721809..134938470 [GRCh37]
Chr11:11q24.3-25		 pathogenic
GRCh37/hg19 11q25(chr11:131426397-134938470)x1 copy number loss See cases [RCV000511121] Chr11:131426397..134938470 [GRCh37]
Chr11:11q25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q25(chr11:133328654-134177275)x3 copy number gain See cases [RCV000510975] Chr11:133328654..134177275 [GRCh37]
Chr11:11q25		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:126762944-134938470)x1 copy number loss See cases [RCV000511303] Chr11:126762944..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_032801.5(JAM3):c.843-3T>C single nucleotide variant Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV000608289]|not provided [RCV000836678] Chr11:134148761 [GRCh38]
Chr11:134018656 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.410-14_410-13insCT insertion Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV000600118]|not provided [RCV001522755] Chr11:134144778..134144779 [GRCh38]
Chr11:134014673..134014674 [GRCh37]
Chr11:11q25		 benign|conflicting interpretations of pathogenicity
GRCh37/hg19 11q25(chr11:133609389-134938470)x1 copy number loss See cases [RCV000512352] Chr11:133609389..134938470 [GRCh37]
Chr11:11q25		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q25(chr11:133313372-134110127)x3 copy number gain not provided [RCV000683349] Chr11:133313372..134110127 [GRCh37]
Chr11:11q25		 uncertain significance
GRCh37/hg19 11q25(chr11:132187876-134938470)x1 copy number loss not provided [RCV000683361] Chr11:132187876..134938470 [GRCh37]
Chr11:11q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.3-25(chr11:129072293-134938470)x1 copy number loss not provided [RCV000683368] Chr11:129072293..134938470 [GRCh37]
Chr11:11q24.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:126362042-134938470)x3 copy number gain not provided [RCV000737697] Chr11:126362042..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:127751691-134938470)x3 copy number gain not provided [RCV000737699] Chr11:127751691..134938470 [GRCh37]
Chr11:11q24.2-25		 benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:125366454-134938470)x1 copy number loss not provided [RCV000750223] Chr11:125366454..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q25(chr11:131740926-134934063)x1 copy number loss not provided [RCV000750237] Chr11:131740926..134934063 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.256+173T>C single nucleotide variant not provided [RCV001678624] Chr11:134140943 [GRCh38]
Chr11:134010838 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.76+253C>T single nucleotide variant not provided [RCV001612421] Chr11:134069412 [GRCh38]
Chr11:133939307 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.712+71T>C single nucleotide variant not provided [RCV001709438] Chr11:134146116 [GRCh38]
Chr11:134016011 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.142+231C>A single nucleotide variant not provided [RCV001641544] Chr11:134140147 [GRCh38]
Chr11:134010042 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.256+125_256+129del deletion not provided [RCV001690716] Chr11:134140895..134140899 [GRCh38]
Chr11:134010790..134010794 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.921G>A (p.Ser307=) single nucleotide variant not provided [RCV000972491] Chr11:134149169 [GRCh38]
Chr11:134019064 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.43C>G (p.Leu15Val) single nucleotide variant not provided [RCV000960203] Chr11:134069126 [GRCh38]
Chr11:133939021 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.883C>T (p.Arg295Cys) single nucleotide variant not provided [RCV000947404] Chr11:134148804 [GRCh38]
Chr11:134018699 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.257-4G>A single nucleotide variant not provided [RCV000924677] Chr11:134144237 [GRCh38]
Chr11:134014132 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.588C>T (p.His196=) single nucleotide variant not provided [RCV000902883] Chr11:134144970 [GRCh38]
Chr11:134014865 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.285G>A (p.Leu95=) single nucleotide variant not provided [RCV000886838] Chr11:134144269 [GRCh38]
Chr11:134014164 [GRCh37]
Chr11:11q25		 benign
GRCh37/hg19 11q24.3-25(chr11:130173156-134938470) copy number gain Seizure [RCV002280624] Chr11:130173156..134938470 [GRCh37]
Chr11:11q24.3-25		 likely pathogenic
GRCh37/hg19 11q25(chr11:130969272-134938470)x1 copy number loss not provided [RCV000848686] Chr11:130969272..134938470 [GRCh37]
Chr11:11q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q25(chr11:131327161-134938470)x3 copy number gain not provided [RCV001006461] Chr11:131327161..134938470 [GRCh37]
Chr11:11q25		 uncertain significance
NC_000011.10:g.134148761T>C single nucleotide variant not provided [RCV000836678] Chr11:134018656 [GRCh37]
Chr11:11q25		 benign
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_032801.5(JAM3):c.825T>C (p.Asn275=) single nucleotide variant not provided [RCV000976680] Chr11:134148659 [GRCh38]
Chr11:134018554 [GRCh37]
Chr11:11q25		 likely benign
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_032801.5(JAM3):c.2T>A (p.Met1Lys) single nucleotide variant Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV001197760] Chr11:134069085 [GRCh38]
Chr11:133938980 [GRCh37]
Chr11:11q25		 likely pathogenic
NM_032801.5(JAM3):c.367C>T (p.Arg123Cys) single nucleotide variant not provided [RCV003104407] Chr11:134144351 [GRCh38]
Chr11:134014246 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.257-153_257-152del deletion not provided [RCV001695631] Chr11:134144088..134144089 [GRCh38]
Chr11:134013983..134013984 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.142+136G>A single nucleotide variant not provided [RCV001660942] Chr11:134140052 [GRCh38]
Chr11:134009947 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.897+137_897+138insCACAC insertion not provided [RCV001654124] Chr11:134148955..134148956 [GRCh38]
Chr11:134018850..134018851 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.143-184G>T single nucleotide variant not provided [RCV001671700] Chr11:134140473 [GRCh38]
Chr11:134010368 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.*285G>A single nucleotide variant not provided [RCV001651727] Chr11:134149466 [GRCh38]
Chr11:134019361 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.612+159_612+162del deletion not provided [RCV001645850] Chr11:134145150..134145153 [GRCh38]
Chr11:134015045..134015048 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.256+57A>G single nucleotide variant not provided [RCV001674444] Chr11:134140827 [GRCh38]
Chr11:134010722 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.257-103G>T single nucleotide variant not provided [RCV001551497] Chr11:134144138 [GRCh38]
Chr11:134014033 [GRCh37]
Chr11:11q25		 likely benign
Single allele single nucleotide variant not provided [RCV001649845] Chr11:134068835 [GRCh38]
Chr11:133938730 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.*90G>A single nucleotide variant not provided [RCV001563004] Chr11:134149271 [GRCh38]
Chr11:134019166 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.897+138AC[18] microsatellite not provided [RCV001676587] Chr11:134148956..134148959 [GRCh38]
Chr11:134018851..134018854 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.76+201C>T single nucleotide variant not provided [RCV001587952] Chr11:134069360 [GRCh38]
Chr11:133939255 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.143-64G>C single nucleotide variant not provided [RCV001540475] Chr11:134140593 [GRCh38]
Chr11:134010488 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.613G>A (p.Val205Met) single nucleotide variant not provided [RCV000881368] Chr11:134145946 [GRCh38]
Chr11:134015841 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.143-8C>T single nucleotide variant not provided [RCV000887437] Chr11:134140649 [GRCh38]
Chr11:134010544 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.441G>A (p.Pro147=) single nucleotide variant not provided [RCV000887438] Chr11:134144823 [GRCh38]
Chr11:134014718 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.771C>T (p.Ala257=) single nucleotide variant not provided [RCV000896928] Chr11:134148605 [GRCh38]
Chr11:134018500 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.612+8C>A single nucleotide variant not provided [RCV000907360] Chr11:134145002 [GRCh38]
Chr11:134014897 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.449T>C (p.Val150Ala) single nucleotide variant not provided [RCV000962232] Chr11:134144831 [GRCh38]
Chr11:134014726 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.897+137_897+142del deletion not provided [RCV001539585] Chr11:134148955..134148960 [GRCh38]
Chr11:134018850..134018855 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.613-97G>A single nucleotide variant not provided [RCV001578095] Chr11:134145849 [GRCh38]
Chr11:134015744 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.897+138AC[23] microsatellite not provided [RCV001621720] Chr11:134148955..134148956 [GRCh38]
Chr11:134018850..134018851 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.143-113G>A single nucleotide variant not provided [RCV001553187] Chr11:134140544 [GRCh38]
Chr11:134010439 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.613-102C>T single nucleotide variant not provided [RCV001565518] Chr11:134145844 [GRCh38]
Chr11:134015739 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.-8C>T single nucleotide variant not provided [RCV001546098] Chr11:134069076 [GRCh38]
Chr11:133938971 [GRCh37]
Chr11:11q25		 likely benign
GRCh37/hg19 11q25(chr11:133841587-134507651)x3 copy number gain not provided [RCV001006464] Chr11:133841587..134507651 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.256+128del deletion not provided [RCV001675487] Chr11:134140886 [GRCh38]
Chr11:134010781 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.897+138AC[19] microsatellite not provided [RCV001637287] Chr11:134148956..134148957 [GRCh38]
Chr11:134018851..134018852 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.143-256C>T single nucleotide variant not provided [RCV001596036] Chr11:134140401 [GRCh38]
Chr11:134010296 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.898-61G>A single nucleotide variant not provided [RCV001689381] Chr11:134149085 [GRCh38]
Chr11:134018980 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.897+137_897+140del deletion not provided [RCV001588318] Chr11:134148955..134148958 [GRCh38]
Chr11:134018850..134018853 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.230_231del (p.Tyr77fs) microsatellite Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV002284968]|not provided [RCV001093111] Chr11:134140742..134140743 [GRCh38]
Chr11:134010637..134010638 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.897+138AC[22] microsatellite not provided [RCV001665752] Chr11:134148955..134148956 [GRCh38]
Chr11:134018850..134018851 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.142+181G>A single nucleotide variant not provided [RCV001589505] Chr11:134140097 [GRCh38]
Chr11:134009992 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.142+49T>C single nucleotide variant not provided [RCV001707480] Chr11:134139965 [GRCh38]
Chr11:134009860 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.612+265G>A single nucleotide variant not provided [RCV001612397] Chr11:134145259 [GRCh38]
Chr11:134015154 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.410-1G>A single nucleotide variant Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV001528156] Chr11:134144791 [GRCh38]
Chr11:134014686 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.410-111G>A single nucleotide variant not provided [RCV001587203] Chr11:134144681 [GRCh38]
Chr11:134014576 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.897+137_897+138insCAC insertion not provided [RCV001684005] Chr11:134148955..134148956 [GRCh38]
Chr11:134018850..134018851 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.1A>G (p.Met1Val) single nucleotide variant Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV001027669] Chr11:134069084 [GRCh38]
Chr11:133938979 [GRCh37]
Chr11:11q25		 pathogenic
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1 copy number loss not provided [RCV001258505] Chr11:127602115..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1 copy number loss not provided [RCV001258504] Chr11:125785487..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q24.3-25(chr11:130128323-134938470)x1 copy number loss not provided [RCV001258507] Chr11:130128323..134938470 [GRCh37]
Chr11:11q24.3-25		 likely pathogenic
NM_032801.5(JAM3):c.409+112G>C single nucleotide variant not provided [RCV001527905] Chr11:134144505 [GRCh38]
Chr11:134014400 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.267G>A (p.Ala89=) single nucleotide variant not provided [RCV001427535] Chr11:134144251 [GRCh38]
Chr11:134014146 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.410-14_410-13insCTT insertion Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV002476813]|not provided [RCV001511683] Chr11:134144778..134144779 [GRCh38]
Chr11:134014673..134014674 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.898-150T>A single nucleotide variant not provided [RCV001724592] Chr11:134148996 [GRCh38]
Chr11:134018891 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.897+32G>A single nucleotide variant not provided [RCV001618959] Chr11:134148850 [GRCh38]
Chr11:134018745 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.*36G>T single nucleotide variant not provided [RCV001654994] Chr11:134149217 [GRCh38]
Chr11:134019112 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.898-21_898-18del deletion not provided [RCV001512521] Chr11:134149123..134149126 [GRCh38]
Chr11:134019018..134019021 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.256+1260G>C single nucleotide variant Porencephaly-microcephaly-bilateral congenital cataract syndrome [RCV001528155] Chr11:134142030 [GRCh38]
Chr11:134011925 [GRCh37]
Chr11:11q25		 likely pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_032801.5(JAM3):c.*105C>T single nucleotide variant not provided [RCV001797253] Chr11:134149286 [GRCh38]
Chr11:134019181 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.142+91del deletion not provided [RCV001756359] Chr11:134140006 [GRCh38]
Chr11:134009901 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.572G>A (p.Arg191His) single nucleotide variant not provided [RCV001950750] Chr11:134144954 [GRCh38]
Chr11:134014849 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.891C>T (p.Asp297=) single nucleotide variant not provided [RCV001911405] Chr11:134148812 [GRCh38]
Chr11:134018707 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.713-20C>G single nucleotide variant not provided [RCV001909040] Chr11:134148527 [GRCh38]
Chr11:134018422 [GRCh37]
Chr11:11q25		 uncertain significance
NC_000011.9:g.(?_133778964)_(134134854_?)del deletion Deficiency of isobutyryl-CoA dehydrogenase [RCV001982932]|not provided [RCV001951318] Chr11:133778964..134134854 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.376A>G (p.Ile126Val) single nucleotide variant not provided [RCV002041551] Chr11:134144360 [GRCh38]
Chr11:134014255 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.751G>T (p.Val251Phe) single nucleotide variant not provided [RCV002007071] Chr11:134148585 [GRCh38]
Chr11:134018480 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.816C>G (p.Phe272Leu) single nucleotide variant not provided [RCV002001976] Chr11:134148650 [GRCh38]
Chr11:134018545 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.805C>T (p.Arg269Cys) single nucleotide variant not provided [RCV001894299] Chr11:134148639 [GRCh38]
Chr11:134018534 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.503G>A (p.Arg168Gln) single nucleotide variant not provided [RCV002030997] Chr11:134144885 [GRCh38]
Chr11:134014780 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.923T>C (p.Phe308Ser) single nucleotide variant not provided [RCV002000856] Chr11:134149171 [GRCh38]
Chr11:134019066 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.745del (p.Val249fs) deletion not provided [RCV001920999] Chr11:134148573 [GRCh38]
Chr11:134018468 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.898-8C>A single nucleotide variant not provided [RCV001924587] Chr11:134149138 [GRCh38]
Chr11:134019033 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.806G>A (p.Arg269His) single nucleotide variant not provided [RCV001962726] Chr11:134148640 [GRCh38]
Chr11:134018535 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.892G>T (p.Glu298Ter) single nucleotide variant not provided [RCV001992421] Chr11:134148813 [GRCh38]
Chr11:134018708 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.766C>G (p.Leu256Val) single nucleotide variant not provided [RCV001973001] Chr11:134148600 [GRCh38]
Chr11:134018495 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.148G>A (p.Glu50Lys) single nucleotide variant not provided [RCV001988895] Chr11:134140662 [GRCh38]
Chr11:134010557 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.745dup (p.Val249fs) duplication not provided [RCV001953600] Chr11:134148572..134148573 [GRCh38]
Chr11:134018467..134018468 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.290A>C (p.Lys97Thr) single nucleotide variant not provided [RCV002046332] Chr11:134144274 [GRCh38]
Chr11:134014169 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.578CTT[1] (p.Ser194del) microsatellite not provided [RCV001981057] Chr11:134144958..134144960 [GRCh38]
Chr11:134014853..134014855 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.510C>A (p.His170Gln) single nucleotide variant Inborn genetic diseases [RCV002545710]|not provided [RCV002047239] Chr11:134144892 [GRCh38]
Chr11:134014787 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.867T>C (p.Asp289=) single nucleotide variant not provided [RCV002188405] Chr11:134148788 [GRCh38]
Chr11:134018683 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.657C>T (p.Cys219=) single nucleotide variant not provided [RCV002127682] Chr11:134145990 [GRCh38]
Chr11:134015885 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.77-17T>C single nucleotide variant not provided [RCV002208348] Chr11:134139834 [GRCh38]
Chr11:134009729 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.613-12T>A single nucleotide variant not provided [RCV002114872] Chr11:134145934 [GRCh38]
Chr11:134015829 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.409+15G>A single nucleotide variant not provided [RCV002216291] Chr11:134144408 [GRCh38]
Chr11:134014303 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.117A>T (p.Arg39=) single nucleotide variant not provided [RCV002116864] Chr11:134139891 [GRCh38]
Chr11:134009786 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.498C>T (p.His166=) single nucleotide variant not provided [RCV002185896] Chr11:134144880 [GRCh38]
Chr11:134014775 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.876C>G (p.Asn292Lys) single nucleotide variant not provided [RCV002088634] Chr11:134148797 [GRCh38]
Chr11:134018692 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.143-5G>C single nucleotide variant not provided [RCV002121271] Chr11:134140652 [GRCh38]
Chr11:134010547 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.846C>T (p.Tyr282=) single nucleotide variant not provided [RCV002104215] Chr11:134148767 [GRCh38]
Chr11:134018662 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.409+18G>A single nucleotide variant not provided [RCV002118915] Chr11:134144411 [GRCh38]
Chr11:134014306 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.843-11T>G single nucleotide variant not provided [RCV002122684] Chr11:134148753 [GRCh38]
Chr11:134018648 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.801C>T (p.Tyr267=) single nucleotide variant not provided [RCV002136143] Chr11:134148635 [GRCh38]
Chr11:134018530 [GRCh37]
Chr11:11q25		 likely benign
NC_000011.9:g.(?_133778964)_(134134854_?)dup duplication not provided [RCV003122898] Chr11:133778964..134134854 [GRCh37]
Chr11:11q25		 uncertain significance
NC_000011.9:g.(?_133938979)_(133939074_?)dup duplication not provided [RCV003122899] Chr11:133938979..133939074 [GRCh37]
Chr11:11q25		 uncertain significance
NC_000011.9:g.(?_134009726)_(134134854_?)dup duplication not provided [RCV003122900] Chr11:134009726..134134854 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.358C>T (p.Arg120Ter) single nucleotide variant not provided [RCV002275971] Chr11:134144342 [GRCh38]
Chr11:134014237 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.897+137_897+138del deletion not provided [RCV002286255] Chr11:134148955..134148956 [GRCh38]
Chr11:134018850..134018851 [GRCh37]
Chr11:11q25		 likely benign
GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1 copy number loss not provided [RCV002262373] Chr11:128634685..134257741 [GRCh37]
Chr11:11q24.3-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1 copy number loss Syndromic anorectal malformation [RCV002286600] Chr11:127075189..134945120 [GRCh37]
Chr11:11q24.2-25		 likely pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_032801.5(JAM3):c.76+25456_76+25517del deletion Schizophrenia [RCV002463510] Chr11:134094615..134094676 [GRCh38]
Chr11:133964510..133964571 [GRCh37]
Chr11:11q25		 uncertain significance
GRCh37/hg19 11q25(chr11:130880039-134938470)x3 copy number gain See cases [RCV002292709] Chr11:130880039..134938470 [GRCh37]
Chr11:11q25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1 copy number loss not provided [RCV002474497] Chr11:122975824..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q25(chr11:133238757-134330730)x3 copy number gain not provided [RCV002474691] Chr11:133238757..134330730 [GRCh37]
Chr11:11q25		 uncertain significance
GRCh37/hg19 11q25(chr11:130935635-134938470)x1 copy number loss not provided [RCV002472608] Chr11:130935635..134938470 [GRCh37]
Chr11:11q25		 likely pathogenic
NM_032801.5(JAM3):c.401C>G (p.Thr134Ser) single nucleotide variant Inborn genetic diseases [RCV002837170] Chr11:134144385 [GRCh38]
Chr11:134014280 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.4G>T (p.Ala2Ser) single nucleotide variant Inborn genetic diseases [RCV002616218]|not provided [RCV002616217] Chr11:134069087 [GRCh38]
Chr11:133938982 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.77-9C>G single nucleotide variant not provided [RCV002971646] Chr11:134139842 [GRCh38]
Chr11:134009737 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.560A>G (p.Asn187Ser) single nucleotide variant Inborn genetic diseases [RCV002906378] Chr11:134144942 [GRCh38]
Chr11:134014837 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.367_369del (p.Arg123del) deletion not provided [RCV003013471] Chr11:134144350..134144352 [GRCh38]
Chr11:134014245..134014247 [GRCh37]
Chr11:11q25		 uncertain significance
GRCh37/hg19 11q25(chr11:133760907-134938470)x1 copy number loss not provided [RCV002475833] Chr11:133760907..134938470 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.783G>T (p.Leu261Phe) single nucleotide variant Inborn genetic diseases [RCV002683985] Chr11:134148617 [GRCh38]
Chr11:134018512 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.245A>G (p.Asn82Ser) single nucleotide variant not provided [RCV003012186] Chr11:134140759 [GRCh38]
Chr11:134010654 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.737T>C (p.Ile246Thr) single nucleotide variant not provided [RCV003074240] Chr11:134148571 [GRCh38]
Chr11:134018466 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.76+5G>T single nucleotide variant Inborn genetic diseases [RCV002816962] Chr11:134069164 [GRCh38]
Chr11:133939059 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.697C>G (p.Gln233Glu) single nucleotide variant Inborn genetic diseases [RCV003076480]|not provided [RCV003051260] Chr11:134146030 [GRCh38]
Chr11:134015925 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.40C>T (p.Arg14Trp) single nucleotide variant not provided [RCV002638929] Chr11:134069123 [GRCh38]
Chr11:133939018 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.713-18A>G single nucleotide variant not provided [RCV002867745] Chr11:134148529 [GRCh38]
Chr11:134018424 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.680C>T (p.Ser227Leu) single nucleotide variant not provided [RCV002706573] Chr11:134146013 [GRCh38]
Chr11:134015908 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.750G>C (p.Leu250_Val251=) single nucleotide variant not provided [RCV002736497] Chr11:134148584 [GRCh38]
Chr11:134018479 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.410-5dup duplication not provided [RCV002976206] Chr11:134144783..134144784 [GRCh38]
Chr11:134014678..134014679 [GRCh37]
Chr11:11q25		 benign
NM_032801.5(JAM3):c.410-6C>T single nucleotide variant not provided [RCV002711809] Chr11:134144786 [GRCh38]
Chr11:134014681 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.571C>T (p.Arg191Cys) single nucleotide variant not provided [RCV002958131] Chr11:134144953 [GRCh38]
Chr11:134014848 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.116G>A (p.Arg39Gln) single nucleotide variant not provided [RCV002957676] Chr11:134139890 [GRCh38]
Chr11:134009785 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.179C>T (p.Thr60Ile) single nucleotide variant Inborn genetic diseases [RCV002929692] Chr11:134140693 [GRCh38]
Chr11:134010588 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.572dup (p.Asn192fs) duplication not provided [RCV003039760] Chr11:134144953..134144954 [GRCh38]
Chr11:134014848..134014849 [GRCh37]
Chr11:11q25		 pathogenic
NM_032801.5(JAM3):c.602C>G (p.Thr201Arg) single nucleotide variant not provided [RCV002958277] Chr11:134144984 [GRCh38]
Chr11:134014879 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.670G>T (p.Asp224Tyr) single nucleotide variant Inborn genetic diseases [RCV002930310] Chr11:134146003 [GRCh38]
Chr11:134015898 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.410-4del deletion not provided [RCV002625528] Chr11:134144788 [GRCh38]
Chr11:134014683 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.472C>T (p.Leu158_His159=) single nucleotide variant not provided [RCV002574533] Chr11:134144854 [GRCh38]
Chr11:134014749 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.713-7T>C single nucleotide variant not provided [RCV002928483] Chr11:134148540 [GRCh38]
Chr11:134018435 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.524G>A (p.Arg175His) single nucleotide variant Inborn genetic diseases [RCV002826704] Chr11:134144906 [GRCh38]
Chr11:134014801 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.798A>G (p.Ala266_Tyr267=) single nucleotide variant not provided [RCV003007461] Chr11:134148632 [GRCh38]
Chr11:134018527 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.14G>A (p.Arg5Gln) single nucleotide variant not provided [RCV003023058] Chr11:134069097 [GRCh38]
Chr11:133938992 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.174G>A (p.Ser58_Gln59=) single nucleotide variant not provided [RCV002632222] Chr11:134140688 [GRCh38]
Chr11:134010583 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.614T>C (p.Val205Ala) single nucleotide variant Inborn genetic diseases [RCV002831689] Chr11:134145947 [GRCh38]
Chr11:134015842 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.545C>T (p.Thr182Met) single nucleotide variant Inborn genetic diseases [RCV002879205] Chr11:134144927 [GRCh38]
Chr11:134014822 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.387T>G (p.Ile129Met) single nucleotide variant not provided [RCV002576475] Chr11:134144371 [GRCh38]
Chr11:134014266 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.900C>T (p.Gly300_Asp301=) single nucleotide variant not provided [RCV002647279] Chr11:134149148 [GRCh38]
Chr11:134019043 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.142+3A>G single nucleotide variant not provided [RCV002580544] Chr11:134139919 [GRCh38]
Chr11:134009814 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.843-7_843-5del microsatellite not provided [RCV002650941] Chr11:134148754..134148756 [GRCh38]
Chr11:134018649..134018651 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.256+13A>C single nucleotide variant not provided [RCV002578812] Chr11:134140783 [GRCh38]
Chr11:134010678 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.817A>T (p.Ile273Phe) single nucleotide variant not provided [RCV003027987] Chr11:134148651 [GRCh38]
Chr11:134018546 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.113A>G (p.Asn38Ser) single nucleotide variant Inborn genetic diseases [RCV002648679] Chr11:134139887 [GRCh38]
Chr11:134009782 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.884G>A (p.Arg295His) single nucleotide variant not provided [RCV002628046] Chr11:134148805 [GRCh38]
Chr11:134018700 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.532G>A (p.Val178Ile) single nucleotide variant Inborn genetic diseases [RCV002921162] Chr11:134144914 [GRCh38]
Chr11:134014809 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.628C>T (p.His210Tyr) single nucleotide variant not provided [RCV003026382] Chr11:134145961 [GRCh38]
Chr11:134015856 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.23G>A (p.Arg8Gln) single nucleotide variant not provided [RCV002721683] Chr11:134069106 [GRCh38]
Chr11:133939001 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.257-15G>A single nucleotide variant not provided [RCV002584113] Chr11:134144226 [GRCh38]
Chr11:134014121 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.842+17T>G single nucleotide variant not provided [RCV002721886] Chr11:134148693 [GRCh38]
Chr11:134018588 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.351C>A (p.Val117_Val118=) single nucleotide variant not provided [RCV002725248] Chr11:134144335 [GRCh38]
Chr11:134014230 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.142+4_142+7del microsatellite not provided [RCV002612963] Chr11:134139915..134139918 [GRCh38]
Chr11:134009810..134009813 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.554G>T (p.Arg185Ile) single nucleotide variant Inborn genetic diseases [RCV002586777]|not provided [RCV002586778] Chr11:134144936 [GRCh38]
Chr11:134014831 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.691G>A (p.Glu231Lys) single nucleotide variant not provided [RCV002582772] Chr11:134146024 [GRCh38]
Chr11:134015919 [GRCh37]
Chr11:11q25		 uncertain significance
NM_032801.5(JAM3):c.438G>A (p.Val146_Pro147=) single nucleotide variant not provided [RCV002608458] Chr11:134144820 [GRCh38]
Chr11:134014715 [GRCh37]
Chr11:11q25		 likely benign
NM_032801.5(JAM3):c.612+19G>C single nucleotide variant not provided [RCV002589871] Chr11:134145013 [GRCh38]
Chr11:134014908 [GRCh37]
Chr11:11q25		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3638
Count of miRNA genes:943
Interacting mature miRNAs:1126
Transcripts:ENST00000299106, ENST00000441717, ENST00000524969, ENST00000529443, ENST00000531302, ENST00000532165, ENST00000532252, ENST00000533711, ENST00000534549
Prediction methods: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
WI-21682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711133,992,557 - 133,992,770UniSTSGRCh37
GRCh37132,373,200 - 32,373,417UniSTSGRCh37
Build 36132,145,787 - 32,146,004RGDNCBI36
Celera130,643,198 - 30,643,415RGD
Celera11131,165,954 - 131,166,167UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map1p35UniSTS
HuRef130,489,827 - 30,490,044UniSTS
HuRef11129,946,949 - 129,947,162UniSTS
GeneMap99-GB4 RH Map1100.65UniSTS
Whitehead-RH Map1110.6UniSTS
NCBI RH Map1173.8UniSTS
A008R34  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711134,021,418 - 134,021,584UniSTSGRCh37
Build 3611133,526,628 - 133,526,794RGDNCBI36
Celera11131,194,601 - 131,194,767RGD
Cytogenetic Map11q25UniSTS
HuRef11129,975,954 - 129,976,120UniSTS
GeneMap99-GB4 RH Map11431.56UniSTS
NCBI RH Map111103.0UniSTS
SHGC-35044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711134,019,724 - 134,019,853UniSTSGRCh37
Build 3611133,524,934 - 133,525,063RGDNCBI36
Celera11131,192,907 - 131,193,036RGD
Cytogenetic Map11q25UniSTS
HuRef11129,974,260 - 129,974,389UniSTS
GeneMap99-GB4 RH Map11433.88UniSTS
Whitehead-RH Map11600.9UniSTS
GeneMap99-G3 RH Map116009.0UniSTS
AFM193yh2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711133,991,665 - 133,991,778UniSTSGRCh37
Build 3611133,496,875 - 133,496,988RGDNCBI36
Celera11131,165,060 - 131,165,175RGD
Cytogenetic Map11q25UniSTS
HuRef11129,946,057 - 129,946,170UniSTS
Whitehead-RH Map11609.2UniSTS
WI-8498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37132,372,038 - 32,372,335UniSTSGRCh37
GRCh3711133,991,399 - 133,991,706UniSTSGRCh37
Build 36132,144,625 - 32,144,922RGDNCBI36
Celera130,642,037 - 30,642,334RGD
Celera11131,164,794 - 131,165,101UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map1p35UniSTS
HuRef11129,945,791 - 129,946,098UniSTS
Whitehead-YAC Contig Map11 UniSTS
RH40091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711133,993,334 - 133,993,591UniSTSGRCh37
GRCh37132,374,065 - 32,374,325UniSTSGRCh37
Build 36132,146,652 - 32,146,912RGDNCBI36
Celera11131,166,731 - 131,166,988UniSTS
Celera130,643,977 - 30,644,237RGD
Cytogenetic Map11q24-q25UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map11q25UniSTS
HuRef11129,947,726 - 129,947,983UniSTS
HuRef130,490,665 - 30,490,925UniSTS
RH26817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711134,021,452 - 134,021,569UniSTSGRCh37
Build 3611133,526,662 - 133,526,779RGDNCBI36
Celera11131,194,635 - 131,194,752RGD
Cytogenetic Map11q25UniSTS
HuRef11129,975,988 - 129,976,105UniSTS
D11S1045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711134,014,912 - 134,015,167UniSTSGRCh37
Build 3611133,520,122 - 133,520,377RGDNCBI36
Celera11131,188,094 - 131,188,349RGD
Cytogenetic Map11q25UniSTS
HuRef11129,969,525 - 129,969,780UniSTS
WI-11521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711133,993,552 - 133,993,676UniSTSGRCh37
GRCh37132,374,286 - 32,374,410UniSTSGRCh37
Build 36132,146,873 - 32,146,997RGDNCBI36
Celera130,644,198 - 30,644,322RGD
Celera11131,166,949 - 131,167,073UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map11q24-q25UniSTS
HuRef11129,947,944 - 129,948,068UniSTS
HuRef130,490,886 - 30,491,010UniSTS
GeneMap99-GB4 RH Map11442.33UniSTS
GeneMap99-GB4 RH Map193.17UniSTS
Whitehead-RH Map190.2UniSTS
JAM3_1398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711134,020,812 - 134,021,709UniSTSGRCh37
Build 3611133,526,022 - 133,526,919RGDNCBI36
Celera11131,193,995 - 131,194,892RGD
HuRef11129,975,348 - 129,976,245UniSTS
G02300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711133,969,846 - 133,970,052UniSTSGRCh37
Build 3611133,475,056 - 133,475,262RGDNCBI36
Celera11131,143,245 - 131,143,451RGD
Cytogenetic Map11q25UniSTS
HuRef11129,924,234 - 129,924,440UniSTS
D11S2387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711134,021,347 - 134,021,619UniSTSGRCh37
Build 3611133,526,557 - 133,526,829RGDNCBI36
Celera11131,194,530 - 131,194,802RGD
Cytogenetic Map11q25UniSTS
HuRef11129,975,883 - 129,976,155UniSTS
GeneMap99-GB4 RH Map11431.56UniSTS
Whitehead-RH Map11599.5UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map111103.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2000 2072 1256 169 472 27 3447 1299 3554 202 1267 1410 148 1 1190 1996 5
Low 392 851 465 452 1340 432 907 895 179 199 165 182 25 14 792 1 2
Below cutoff 12 67 3 2 103 2 1 3 1 9 10 16 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001205329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF356518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF448478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ344431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ416101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA238009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W76344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299106   ⟹   ENSP00000299106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,069,072 - 134,152,001 (+)Ensembl
RefSeq Acc Id: ENST00000441717   ⟹   ENSP00000395742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,069,071 - 134,151,751 (+)Ensembl
RefSeq Acc Id: ENST00000524969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,126,339 - 134,144,996 (+)Ensembl
RefSeq Acc Id: ENST00000531302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,069,085 - 134,145,431 (+)Ensembl
RefSeq Acc Id: ENST00000532165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,139,640 - 134,145,012 (+)Ensembl
RefSeq Acc Id: ENST00000532252   ⟹   ENSP00000432455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,069,071 - 134,144,826 (+)Ensembl
RefSeq Acc Id: ENST00000533711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,147,798 - 134,149,208 (+)Ensembl
RefSeq Acc Id: ENST00000534549   ⟹   ENSP00000433206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,069,071 - 134,144,934 (+)Ensembl
RefSeq Acc Id: NM_001205329   ⟹   NP_001192258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,069,072 - 134,152,001 (+)NCBI
GRCh3711133,938,820 - 134,021,652 (+)ENTREZGENE
HuRef11129,893,248 - 129,976,188 (+)ENTREZGENE
CHM1_111133,826,755 - 133,908,474 (+)NCBI
T2T-CHM13v2.011134,112,013 - 134,194,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032801   ⟹   NP_116190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,069,072 - 134,152,001 (+)NCBI
GRCh3711133,938,820 - 134,021,652 (+)ENTREZGENE
Build 3611133,444,030 - 133,526,861 (+)NCBI Archive
HuRef11129,893,248 - 129,976,188 (+)ENTREZGENE
CHM1_111133,826,755 - 133,908,474 (+)NCBI
T2T-CHM13v2.011134,112,013 - 134,194,140 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_116190   ⟸   NM_032801
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96FL1 (UniProtKB/Swiss-Prot),   Q9BX67 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001192258   ⟸   NM_001205329
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9BX67 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000432455   ⟸   ENST00000532252
RefSeq Acc Id: ENSP00000395742   ⟸   ENST00000441717
RefSeq Acc Id: ENSP00000433206   ⟸   ENST00000534549
RefSeq Acc Id: ENSP00000299106   ⟸   ENST00000299106
Protein Domains
Ig-like   Ig-like C2-type   Ig-like V-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BX67-F1-model_v2 AlphaFold Q9BX67 1-310 view protein structure

Promoters
RGD ID:6789018
Promoter ID:HG_KWN:14650
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:NM_032801,   UC009ZCZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611133,443,961 - 133,444,461 (+)MPROMDB
RGD ID:7222685
Promoter ID:EPDNEW_H17088
Type:initiation region
Name:JAM3_1
Description:junctional adhesion molecule 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17087  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,069,072 - 134,069,132EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15532 AgrOrtholog
COSMIC JAM3 COSMIC
Ensembl Genes ENSG00000166086 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000299106 ENTREZGENE
  ENSP00000299106.4 UniProtKB/Swiss-Prot
  ENSP00000395742 ENTREZGENE
  ENSP00000395742.3 UniProtKB/Swiss-Prot
  ENSP00000432455.1 UniProtKB/TrEMBL
  ENSP00000433206.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000299106 ENTREZGENE
  ENST00000299106.9 UniProtKB/Swiss-Prot
  ENST00000441717 ENTREZGENE
  ENST00000441717.3 UniProtKB/Swiss-Prot
  ENST00000532252.5 UniProtKB/TrEMBL
  ENST00000534549.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166086 GTEx
HGNC ID HGNC:15532 ENTREZGENE
Human Proteome Map JAM3 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot
  JAM-C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83700 UniProtKB/Swiss-Prot
NCBI Gene 83700 ENTREZGENE
OMIM 606871 OMIM
  613730 OMIM
PANTHER JUNCTIONAL ADHESION MOLECULE C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR44598 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ig_3 UniProtKB/Swiss-Prot
  V-set UniProtKB/Swiss-Prot
PharmGKB PA29993 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot
  IGv UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H0YCW9_HUMAN UniProtKB/TrEMBL
  H0YD98_HUMAN UniProtKB/TrEMBL
  JAM3_HUMAN UniProtKB/Swiss-Prot
  Q96FL1 ENTREZGENE
  Q9BX67 ENTREZGENE
UniProt Secondary B3KWG9 UniProtKB/Swiss-Prot
  Q8WWL8 UniProtKB/Swiss-Prot
  Q96FL1 UniProtKB/Swiss-Prot