TSPAN12 (tetraspanin 12) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TSPAN12 (tetraspanin 12) Homo sapiens
Analyze
Symbol: TSPAN12
Name: tetraspanin 12
RGD ID: 1322379
HGNC Page HGNC:21641
Description: Predicted to be involved in cell surface receptor signaling pathway; regulation of angiogenesis; and retina layer formation. Predicted to act upstream of or within Norrin signaling pathway and maintenance of blood-brain barrier. Predicted to be located in plasma membrane. Implicated in exudative vitreoretinopathy 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EVR5; NET-2; NET2; tetraspan NET-2; tetraspanin-12; TM4SF12; transmembrane 4 superfamily member 12; tspan-12
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AL592436.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387120,787,320 - 120,858,335 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7120,787,320 - 120,858,402 (-)EnsemblGRCh38hg38GRCh38
GRCh377120,427,374 - 120,498,198 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367120,214,610 - 120,285,413 (-)NCBINCBI36Build 36hg18NCBI36
Build 347120,021,325 - 120,092,128NCBI
Celera7115,236,877 - 115,307,696 (-)NCBICelera
Cytogenetic Map7q31.31NCBI
HuRef7114,790,536 - 114,861,356 (-)NCBIHuRef
CHM1_17120,360,669 - 120,431,498 (-)NCBICHM1_1
T2T-CHM13v2.07122,102,649 - 122,173,766 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27119,822,450 - 119,893,269 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
amitrole  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
dioxygen  (EXP)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (EXP,ISO)
genistein  (EXP)
ifosfamide  (EXP)
metformin  (ISO)
methimazole  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
tetrachloromethane  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA,TAS)
plasma membrane  (IEA,ISS)

Molecular Function

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:9847074   PMID:10719184   PMID:11739647   PMID:12477932   PMID:12690205   PMID:12853948   PMID:12975309   PMID:19401682   PMID:19587294   PMID:19837033   PMID:20159111   PMID:20159112  
PMID:20301326   PMID:21334594   PMID:21552475   PMID:21626674   PMID:21640790   PMID:21873635   PMID:22427576   PMID:23834558   PMID:23955570   PMID:25250762   PMID:25352738   PMID:25416956  
PMID:25512506   PMID:26244290   PMID:27007396   PMID:27316669   PMID:28002565   PMID:28211206   PMID:28302484   PMID:28494495   PMID:28867931   PMID:28982955   PMID:29181528   PMID:30097784  
PMID:30513533   PMID:30789994   PMID:31009104   PMID:31237656   PMID:31362470   PMID:31513438   PMID:31755339   PMID:32041891   PMID:32296183   PMID:33602225   PMID:33907885   PMID:34077673  
PMID:34445920   PMID:34687736   PMID:34738848   PMID:34924743   PMID:35022017   PMID:35417085   PMID:36453149   PMID:36458545   PMID:36980859   PMID:37252707   PMID:37451565   PMID:38424652  


Genomics

Comparative Map Data
TSPAN12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387120,787,320 - 120,858,335 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7120,787,320 - 120,858,402 (-)EnsemblGRCh38hg38GRCh38
GRCh377120,427,374 - 120,498,198 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367120,214,610 - 120,285,413 (-)NCBINCBI36Build 36hg18NCBI36
Build 347120,021,325 - 120,092,128NCBI
Celera7115,236,877 - 115,307,696 (-)NCBICelera
Cytogenetic Map7q31.31NCBI
HuRef7114,790,536 - 114,861,356 (-)NCBIHuRef
CHM1_17120,360,669 - 120,431,498 (-)NCBICHM1_1
T2T-CHM13v2.07122,102,649 - 122,173,766 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27119,822,450 - 119,893,269 (-)NCBI
Tspan12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39621,771,390 - 21,879,557 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl621,771,394 - 21,852,514 (-)EnsemblGRCm39 Ensembl
GRCm38621,771,391 - 21,879,596 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl621,771,395 - 21,852,515 (-)EnsemblGRCm38mm10GRCm38
MGSCv37621,721,395 - 21,802,515 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36621,721,396 - 21,802,516 (-)NCBIMGSCv36mm8
Celera621,825,255 - 21,906,372 (-)NCBICelera
Cytogenetic Map6A3.1NCBI
cM Map68.73NCBI
Tspan12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8451,279,562 - 51,355,030 (-)NCBIGRCr8
mRatBN7.2450,313,768 - 50,389,246 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl450,313,772 - 50,389,246 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx455,292,888 - 55,371,672 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0451,213,970 - 51,292,754 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0449,642,270 - 49,717,776 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0448,852,823 - 48,953,240 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl448,852,827 - 48,928,372 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0448,641,401 - 48,715,044 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4448,084,836 - 48,164,956 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1448,315,410 - 48,395,530 (-)NCBI
Celera445,518,037 - 45,592,649 (-)NCBICelera
Cytogenetic Map4q22NCBI
Tspan12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554792,570,937 - 2,635,857 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554792,570,937 - 2,636,884 (-)NCBIChiLan1.0ChiLan1.0
TSPAN12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26157,651,672 - 157,722,565 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan179,661,929 - 9,732,821 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07112,790,606 - 112,861,730 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17125,478,472 - 125,549,091 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7125,478,472 - 125,549,091 (-)Ensemblpanpan1.1panPan2
TSPAN12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11458,941,658 - 59,005,507 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1458,941,551 - 59,005,463 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1458,358,992 - 58,423,887 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01458,977,034 - 59,042,565 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1458,976,838 - 59,041,886 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11459,071,214 - 59,136,845 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01458,694,898 - 58,759,920 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01459,073,370 - 59,138,262 (-)NCBIUU_Cfam_GSD_1.0
Tspan12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511847,865,412 - 47,938,462 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366054,265,316 - 4,338,526 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366054,265,475 - 4,338,518 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSPAN12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1826,046,703 - 26,112,918 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11826,046,645 - 26,112,924 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21827,651,287 - 27,717,509 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TSPAN12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12189,609,229 - 89,680,446 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2189,609,124 - 89,680,297 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604213,900,003 - 13,970,881 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tspan12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478315,226,852 - 15,285,931 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478315,226,927 - 15,285,931 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TSPAN12
194 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012338.4(TSPAN12):c.181C>T (p.Pro61Ser) single nucleotide variant Inborn genetic diseases [RCV002525208]|not provided [RCV000521119] Chr7:120838881 [GRCh38]
Chr7:120478935 [GRCh37]
Chr7:7q31.31
conflicting interpretations of pathogenicity|uncertain significance
NM_012338.4(TSPAN12):c.212_218dup (p.Phe73fs) microsatellite Exudative vitreoretinopathy 5 [RCV000000349] Chr7:120838843..120838844 [GRCh38]
Chr7:120478897..120478898 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.361-5_361-1del deletion Exudative vitreoretinopathy 5 [RCV000000351] Chr7:120810571..120810575 [GRCh38]
Chr7:120450625..120450629 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.301dup (p.Leu101fs) duplication Exudative vitreoretinopathy 5 [RCV001526704]|not provided [RCV002568844] Chr7:120815787..120815788 [GRCh38]
Chr7:120455841..120455842 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000023997]|not provided [RCV001815170] Chr7:120788776 [GRCh38]
Chr7:120428830 [GRCh37]
Chr7:7q31.31
pathogenic|uncertain significance
NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000114398] Chr7:120810518 [GRCh38]
Chr7:120450572 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.67-1G>C single nucleotide variant Exudative vitreoretinopathy 5 [RCV000114399]|not provided [RCV002513944] Chr7:120840110 [GRCh38]
Chr7:120480164 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000114400]|not provided [RCV001854535] Chr7:120840030 [GRCh38]
Chr7:120480084 [GRCh37]
Chr7:7q31.31
pathogenic|uncertain significance
NM_012338.4(TSPAN12):c.285+1G>A single nucleotide variant Exudative vitreoretinopathy 5 [RCV000114401] Chr7:120838776 [GRCh38]
Chr7:120478830 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000000347] Chr7:120788801 [GRCh38]
Chr7:120428855 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.562G>C (p.Gly188Arg) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000000348]|not provided [RCV002512602] Chr7:120806599 [GRCh38]
Chr7:120446653 [GRCh37]
Chr7:7q31.31
pathogenic|uncertain significance
NM_012338.4(TSPAN12):c.419T>A (p.Leu140Ter) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000000350] Chr7:120810512 [GRCh38]
Chr7:120450566 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.302T>A (p.Leu101His) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000000352]|not provided [RCV001209136] Chr7:120815787 [GRCh38]
Chr7:120455841 [GRCh37]
Chr7:7q31.31
pathogenic|uncertain significance
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 7q31.1-31.33(chr7:113799835-124899218)x1 copy number loss See cases [RCV000054160] Chr7:113799835..124899218 [GRCh38]
Chr7:113439890..124539272 [GRCh37]
Chr7:113227126..124326508 [NCBI36]
Chr7:7q31.1-31.33
pathogenic
NM_012338.3(TSPAN12):c.563G>A (p.Gly188Glu) single nucleotide variant Malignant melanoma [RCV000067595] Chr7:120806598 [GRCh38]
Chr7:120446652 [GRCh37]
Chr7:120233888 [NCBI36]
Chr7:7q31.31
not provided
NM_012338.3(TSPAN12):c.460C>T (p.Gln154Ter) single nucleotide variant Malignant melanoma [RCV000067596] Chr7:120810471 [GRCh38]
Chr7:120450525 [GRCh37]
Chr7:120237761 [NCBI36]
Chr7:7q31.31
not provided
NM_012338.4(TSPAN12):c.667C>A (p.Leu223Met) single nucleotide variant Exudative vitreoretinopathy 5 [RCV001331763]|not provided [RCV001865744] Chr7:120788843 [GRCh38]
Chr7:120428897 [GRCh37]
Chr7:7q31.31
uncertain significance
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 7q31.1-31.33(chr7:114142477-125840381)x1 copy number loss See cases [RCV000135311] Chr7:114142477..125840381 [GRCh38]
Chr7:113782532..125480435 [GRCh37]
Chr7:113569768..125267671 [NCBI36]
Chr7:7q31.1-31.33
pathogenic
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 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31
pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q31.31(chr7:120795527-120842557)x1 copy number loss See cases [RCV000143164] Chr7:120795527..120842557 [GRCh38]
Chr7:120435581..120482611 [GRCh37]
Chr7:120222817..120269847 [NCBI36]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.469-12dup duplication Familial exudative vitreoretinopathy [RCV000318834]|not provided [RCV001519357]|not specified [RCV000179933] Chr7:120806696..120806697 [GRCh38]
Chr7:120446750..120446751 [GRCh37]
Chr7:7q31.31
benign|likely benign
GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1 copy number loss See cases [RCV000240177] Chr7:111613396..127897316 [GRCh37]
Chr7:7q31.1-32.1
pathogenic
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) single nucleotide variant Atrophia bulborum hereditaria [RCV000225020]|Exudative vitreoretinopathy 5 [RCV000225062]|Familial exudative vitreoretinopathy [RCV001003234]|Persistent hyperplastic primary vitreous, autosomal recessive [RCV000225079]|not provided [RCV003328570] Chr7:120806619 [GRCh38]
Chr7:120446673 [GRCh37]
Chr7:7q31.31
pathogenic|likely pathogenic
NM_012338.4(TSPAN12):c.765G>T (p.Pro255=) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000263621]|not provided [RCV001511896]|not specified [RCV000250026] Chr7:120788745 [GRCh38]
Chr7:120428799 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.509A>T (p.Glu170Val) single nucleotide variant not provided [RCV000519672] Chr7:120806652 [GRCh38]
Chr7:120446706 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.-43G>A single nucleotide variant Exudative vitreoretinopathy 5 [RCV000283931] Chr7:120856806 [GRCh38]
Chr7:120496860 [GRCh37]
Chr7:7q31.31
benign|uncertain significance
NM_012338.4(TSPAN12):c.-246T>G single nucleotide variant Exudative vitreoretinopathy 5 [RCV000345165]|not provided [RCV003430932] Chr7:120857995 [GRCh38]
Chr7:120498049 [GRCh37]
Chr7:7q31.31
likely benign|uncertain significance
NM_012338.4(TSPAN12):c.*334A>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV000370907] Chr7:120788258 [GRCh38]
Chr7:120428312 [GRCh37]
Chr7:7q31.31
benign|likely benign
NM_012338.4(TSPAN12):c.360+9A>G single nucleotide variant Exudative vitreoretinopathy 5 [RCV000324039]|not provided [RCV000949938] Chr7:120815720 [GRCh38]
Chr7:120455774 [GRCh37]
Chr7:7q31.31
benign|likely benign
NM_012338.4(TSPAN12):c.304G>T (p.Val102Phe) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000378594]|not provided [RCV001861299] Chr7:120815785 [GRCh38]
Chr7:120455839 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.*998G>A single nucleotide variant Exudative vitreoretinopathy 5 [RCV000270416] Chr7:120787594 [GRCh38]
Chr7:120427648 [GRCh37]
Chr7:7q31.31
benign|likely benign
NM_012338.4(TSPAN12):c.*1243A>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV000400312] Chr7:120787349 [GRCh38]
Chr7:120427403 [GRCh37]
Chr7:7q31.31
benign|likely benign
NM_012338.4(TSPAN12):c.*1139A>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV000310847] Chr7:120787453 [GRCh38]
Chr7:120427507 [GRCh37]
Chr7:7q31.31
benign|likely benign
NM_012338.4(TSPAN12):c.367G>C (p.Val123Leu) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000278184]|not provided [RCV000972251] Chr7:120810564 [GRCh38]
Chr7:120450618 [GRCh37]
Chr7:7q31.31
benign|likely benign
NM_012338.4(TSPAN12):c.*39C>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV000386230]|not provided [RCV001653715] Chr7:120788553 [GRCh38]
Chr7:120428607 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.*1270T>G single nucleotide variant Exudative vitreoretinopathy 5 [RCV000341196] Chr7:120787322 [GRCh38]
Chr7:120427376 [GRCh37]
Chr7:7q31.31
benign|likely benign
NM_012338.4(TSPAN12):c.*1067_*1068del deletion Familial exudative vitreoretinopathy [RCV000365472] Chr7:120787524..120787525 [GRCh38]
Chr7:120427578..120427579 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.*40T>C single nucleotide variant Exudative vitreoretinopathy 5 [RCV000331766] Chr7:120788552 [GRCh38]
Chr7:120428606 [GRCh37]
Chr7:7q31.31
likely benign|uncertain significance
NM_012338.4(TSPAN12):c.-251dup duplication Familial exudative vitreoretinopathy [RCV000390021] Chr7:120857999..120858000 [GRCh38]
Chr7:120498053..120498054 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.*103C>A single nucleotide variant Exudative vitreoretinopathy 5 [RCV000276713] Chr7:120788489 [GRCh38]
Chr7:120428543 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.440C>A (p.Thr147Asn) single nucleotide variant not provided [RCV000294921] Chr7:120810491 [GRCh38]
Chr7:120450545 [GRCh37]
Chr7:7q31.31
conflicting interpretations of pathogenicity|uncertain significance
NM_012338.4(TSPAN12):c.-251del deletion Familial exudative vitreoretinopathy [RCV000314686] Chr7:120858000 [GRCh38]
Chr7:120498054 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.*553C>G single nucleotide variant Exudative vitreoretinopathy 5 [RCV000306870] Chr7:120788039 [GRCh38]
Chr7:120428093 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.-314G>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV000369457] Chr7:120858063 [GRCh38]
Chr7:120498117 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.-102G>A single nucleotide variant Exudative vitreoretinopathy 5 [RCV000339001] Chr7:120857851 [GRCh38]
Chr7:120497905 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.457T>C (p.Phe153Leu) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000372777] Chr7:120810474 [GRCh38]
Chr7:120450528 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.-214G>A single nucleotide variant Exudative vitreoretinopathy 5 [RCV000394050] Chr7:120857963 [GRCh38]
Chr7:120498017 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.-245dup duplication Familial exudative vitreoretinopathy [RCV000289946] Chr7:120857993..120857994 [GRCh38]
Chr7:120498047..120498048 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.67-2A>G single nucleotide variant Exudative vitreoretinopathy 5 [RCV001253220]|not provided [RCV000413300] Chr7:120840111 [GRCh38]
Chr7:120480165 [GRCh37]
Chr7:7q31.31
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
NM_012338.4(TSPAN12):c.225_227del (p.Ile76del) deletion Familial exudative vitreoretinopathy [RCV000504771]|TSPAN12-related condition [RCV003419873] Chr7:120838835..120838837 [GRCh38]
Chr7:120478889..120478891 [GRCh37]
Chr7:7q31.31
likely pathogenic|uncertain significance
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_012338.4(TSPAN12):c.100del (p.Trp34fs) deletion Vitreoretinopathy [RCV000626911] Chr7:120840076 [GRCh38]
Chr7:120480130 [GRCh37]
Chr7:7q31.31
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
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
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
NM_012338.4(TSPAN12):c.361-112G>T single nucleotide variant not provided [RCV001667084] Chr7:120810682 [GRCh38]
Chr7:120450736 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.361-84TG[13] microsatellite not provided [RCV001668059] Chr7:120810625..120810628 [GRCh38]
Chr7:120450679..120450682 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.868A>G (p.Thr290Ala) single nucleotide variant not provided [RCV000900224] Chr7:120788642 [GRCh38]
Chr7:120428696 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.833T>C (p.Leu278Pro) single nucleotide variant not provided [RCV000879422] Chr7:120788677 [GRCh38]
Chr7:120428731 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.695T>C (p.Val232Ala) single nucleotide variant not provided [RCV001052842] Chr7:120788815 [GRCh38]
Chr7:120428869 [GRCh37]
Chr7:7q31.31
uncertain significance
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
NC_000007.14:g.(?_120732903)_(120840109_?)dup duplication not provided [RCV001032886] Chr7:120372957..120480163 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.149+10A>G single nucleotide variant not provided [RCV000949939] Chr7:120840017 [GRCh38]
Chr7:120480071 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.361-15_361-9del deletion not provided [RCV000958958] Chr7:120810579..120810585 [GRCh38]
Chr7:120450633..120450639 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.484G>A (p.Val162Ile) single nucleotide variant Exudative vitreoretinopathy 5 [RCV001163991]|not provided [RCV002559571] Chr7:120806677 [GRCh38]
Chr7:120446731 [GRCh37]
Chr7:7q31.31
benign|uncertain significance
NM_012338.4(TSPAN12):c.311T>G (p.Phe104Cys) single nucleotide variant not provided [RCV001052993] Chr7:120815778 [GRCh38]
Chr7:120455832 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.409A>G (p.Asn137Asp) single nucleotide variant not provided [RCV001231477] Chr7:120810522 [GRCh38]
Chr7:120450576 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.825A>G (p.Ser275=) single nucleotide variant Exudative vitreoretinopathy 5 [RCV001161969]|not provided [RCV001396887] Chr7:120788685 [GRCh38]
Chr7:120428739 [GRCh37]
Chr7:7q31.31
likely benign|uncertain significance
NM_012338.4(TSPAN12):c.151G>T (p.Val51Leu) single nucleotide variant not provided [RCV001248640] Chr7:120838911 [GRCh38]
Chr7:120478965 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.334G>A (p.Val112Ile) single nucleotide variant not provided [RCV001227319] Chr7:120815755 [GRCh38]
Chr7:120455809 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.689T>C (p.Ile230Thr) single nucleotide variant not provided [RCV001209283] Chr7:120788821 [GRCh38]
Chr7:120428875 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.67-9T>G single nucleotide variant not provided [RCV001232698] Chr7:120840118 [GRCh38]
Chr7:120480172 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.-151A>C single nucleotide variant Exudative vitreoretinopathy 5 [RCV001159071] Chr7:120857900 [GRCh38]
Chr7:120497954 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.-232C>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV001159074] Chr7:120857981 [GRCh38]
Chr7:120498035 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.763C>G (p.Pro255Ala) single nucleotide variant not provided [RCV001052843] Chr7:120788747 [GRCh38]
Chr7:120428801 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.-277C>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV001160421] Chr7:120858026 [GRCh38]
Chr7:120498080 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.361-102C>T single nucleotide variant not provided [RCV001598453] Chr7:120810672 [GRCh38]
Chr7:120450726 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.469-179C>T single nucleotide variant not provided [RCV001666933] Chr7:120806871 [GRCh38]
Chr7:120446925 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.-169T>A single nucleotide variant Exudative vitreoretinopathy 5 [RCV001159072] Chr7:120857918 [GRCh38]
Chr7:120497972 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.*126T>C single nucleotide variant Exudative vitreoretinopathy 5 [RCV001161967] Chr7:120788466 [GRCh38]
Chr7:120428520 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.147G>A (p.Thr49=) single nucleotide variant Exudative vitreoretinopathy 5 [RCV001163992]|not provided [RCV001502966] Chr7:120840029 [GRCh38]
Chr7:120480083 [GRCh37]
Chr7:7q31.31
likely benign|uncertain significance
NM_012338.4(TSPAN12):c.*1240A>G single nucleotide variant Exudative vitreoretinopathy 5 [RCV001160304] Chr7:120787352 [GRCh38]
Chr7:120427406 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.*887C>G single nucleotide variant Exudative vitreoretinopathy 5 [RCV001160305] Chr7:120787705 [GRCh38]
Chr7:120427759 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.8G>A (p.Arg3Lys) single nucleotide variant Inborn genetic diseases [RCV003166439]|not provided [RCV001233997] Chr7:120856756 [GRCh38]
Chr7:120496810 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.459dup (p.Gln154fs) duplication Exudative vitreoretinopathy 5 [RCV001197349] Chr7:120810471..120810472 [GRCh38]
Chr7:120450525..120450526 [GRCh37]
Chr7:7q31.31
likely pathogenic
NM_012338.4(TSPAN12):c.307A>G (p.Ile103Val) single nucleotide variant not provided [RCV001235192] Chr7:120815782 [GRCh38]
Chr7:120455836 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.566G>A (p.Cys189Tyr) single nucleotide variant Exudative vitreoretinopathy 5 [RCV000991312]|not provided [RCV001070024] Chr7:120806595 [GRCh38]
Chr7:120446649 [GRCh37]
Chr7:7q31.31
pathogenic|likely pathogenic|uncertain significance
NM_012338.4(TSPAN12):c.149+3A>G single nucleotide variant not provided [RCV001593739] Chr7:120840024 [GRCh38]
Chr7:120480078 [GRCh37]
Chr7:7q31.31
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1 copy number loss not provided [RCV001005991] Chr7:106617406..123217914 [GRCh37]
Chr7:7q22.3-31.32
pathogenic
NM_012338.4(TSPAN12):c.361-84TG[17] microsatellite not provided [RCV001597867] Chr7:120810624..120810625 [GRCh38]
Chr7:120450678..120450679 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.-314G>C single nucleotide variant Exudative vitreoretinopathy 5 [RCV001160422] Chr7:120858063 [GRCh38]
Chr7:120498117 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.*104C>A single nucleotide variant Exudative vitreoretinopathy 5 [RCV001161968] Chr7:120788488 [GRCh38]
Chr7:120428542 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.*329G>A single nucleotide variant Exudative vitreoretinopathy 5 [RCV001160306] Chr7:120788263 [GRCh38]
Chr7:120428317 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.361-84TG[16] microsatellite not provided [RCV001685297] Chr7:120810624..120810625 [GRCh38]
Chr7:120450678..120450679 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.361-34C>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV001840822]|not provided [RCV001610084] Chr7:120810604 [GRCh38]
Chr7:120450658 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.361-145C>T single nucleotide variant not provided [RCV001681220] Chr7:120810715 [GRCh38]
Chr7:120450769 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.361-84TG[14] microsatellite not provided [RCV001668795] Chr7:120810625..120810626 [GRCh38]
Chr7:120450679..120450680 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.67-23G>A single nucleotide variant not provided [RCV001679499] Chr7:120840132 [GRCh38]
Chr7:120480186 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.431G>A (p.Arg144Gln) single nucleotide variant not provided [RCV001047347] Chr7:120810500 [GRCh38]
Chr7:120450554 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.875T>C (p.Met292Thr) single nucleotide variant Inborn genetic diseases [RCV003353213]|not provided [RCV001214960] Chr7:120788635 [GRCh38]
Chr7:120428689 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.469-3C>T single nucleotide variant Retinal dystrophy [RCV001075524]|not provided [RCV001301171] Chr7:120806695 [GRCh38]
Chr7:120446749 [GRCh37]
Chr7:7q31.31
uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
NM_012338.4(TSPAN12):c.-127G>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV001159070] Chr7:120857876 [GRCh38]
Chr7:120497930 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.-215G>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV001159073] Chr7:120857964 [GRCh38]
Chr7:120498018 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.832C>A (p.Leu278Met) single nucleotide variant not provided [RCV001037037] Chr7:120788678 [GRCh38]
Chr7:120428732 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.67-3C>T single nucleotide variant not provided [RCV001230119] Chr7:120840112 [GRCh38]
Chr7:120480166 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.460del (p.Gln154fs) deletion Retinal dystrophy [RCV001073344]|not provided [RCV001862495] Chr7:120810471 [GRCh38]
Chr7:120450525 [GRCh37]
Chr7:7q31.31
pathogenic|likely pathogenic
NC_000007.14:g.(?_120788592)_(120788897_?)dup duplication not provided [RCV001031639] Chr7:120428646..120428951 [GRCh37]
Chr7:7q31.31
uncertain significance
NC_000007.14:g.(?_120856698)_(120856763_?)del deletion not provided [RCV001032637] Chr7:120496752..120496817 [GRCh37]
Chr7:7q31.31
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694) copy number loss Global developmental delay [RCV001352642] Chr7:116297277..126370694 [GRCh37]
Chr7:7q31.2-31.33
pathogenic
NM_012338.4(TSPAN12):c.782T>C (p.Met261Thr) single nucleotide variant not provided [RCV001299366] Chr7:120788728 [GRCh38]
Chr7:120428782 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.150-7_150-5del microsatellite not provided [RCV001318726] Chr7:120838917..120838919 [GRCh38]
Chr7:120478971..120478973 [GRCh37]
Chr7:7q31.31
likely benign|uncertain significance
NM_012338.4(TSPAN12):c.614G>A (p.Gly205Asp) single nucleotide variant not provided [RCV001326815] Chr7:120788896 [GRCh38]
Chr7:120428950 [GRCh37]
Chr7:7q31.31
pathogenic|uncertain significance
NM_012338.4(TSPAN12):c.456T>C (p.Phe152=) single nucleotide variant not provided [RCV001422790] Chr7:120810475 [GRCh38]
Chr7:120450529 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.292G>C (p.Gly98Arg) single nucleotide variant not provided [RCV001348739] Chr7:120815797 [GRCh38]
Chr7:120455851 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.510A>G (p.Glu170=) single nucleotide variant not provided [RCV001421787] Chr7:120806651 [GRCh38]
Chr7:120446705 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.547G>T (p.Val183Phe) single nucleotide variant not provided [RCV001294918] Chr7:120806614 [GRCh38]
Chr7:120446668 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.244T>A (p.Tyr82Asn) single nucleotide variant not provided [RCV001344813] Chr7:120838818 [GRCh38]
Chr7:120478872 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.800A>G (p.Asn267Ser) single nucleotide variant not provided [RCV001344922] Chr7:120788710 [GRCh38]
Chr7:120428764 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.630G>A (p.Met210Ile) single nucleotide variant not provided [RCV001347618] Chr7:120788880 [GRCh38]
Chr7:120428934 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.344A>G (p.Tyr115Cys) single nucleotide variant not provided [RCV001322460] Chr7:120815745 [GRCh38]
Chr7:120455799 [GRCh37]
Chr7:7q31.31
uncertain significance
NC_000007.13:g.(?_120428646)_(120428951_?)dup duplication not provided [RCV001323557] Chr7:120428646..120428951 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.875T>A (p.Met292Lys) single nucleotide variant not provided [RCV001299820] Chr7:120788635 [GRCh38]
Chr7:120428689 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.810C>A (p.His270Gln) single nucleotide variant not provided [RCV001318434] Chr7:120788700 [GRCh38]
Chr7:120428754 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.760G>A (p.Glu254Lys) single nucleotide variant not provided [RCV001365438] Chr7:120788750 [GRCh38]
Chr7:120428804 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.162A>C (p.Ala54=) single nucleotide variant not provided [RCV001412872] Chr7:120838900 [GRCh38]
Chr7:120478954 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.66+7_66+10del microsatellite not provided [RCV001393885] Chr7:120856688..120856691 [GRCh38]
Chr7:120496742..120496745 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.66+20_66+22del deletion not provided [RCV001477594] Chr7:120856676..120856678 [GRCh38]
Chr7:120496730..120496732 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.612+11A>G single nucleotide variant not provided [RCV001513147] Chr7:120806538 [GRCh38]
Chr7:120446592 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.641_642insTTTTTTTTTTNNNNNNNNNNATTACAGGCGTGAGCCACCGCGCCCGGCCAATGTATTCCTTTTT (p.Leu214fs) microsatellite not provided [RCV001379615] Chr7:120788868..120788869 [GRCh38]
Chr7:120428922..120428923 [GRCh37]
Chr7:7q31.31
pathogenic|likely pathogenic
NC_000007.13:g.(?_120446640)_120533198del deletion not provided [RCV001384239]   pathogenic
NM_012338.4(TSPAN12):c.96T>A (p.Ser32=) single nucleotide variant not provided [RCV001443273] Chr7:120840080 [GRCh38]
Chr7:120480134 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.476G>T (p.Cys159Phe) single nucleotide variant Exudative vitreoretinopathy 5 [RCV002250875] Chr7:120806685 [GRCh38]
Chr7:120446739 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.2T>A (p.Met1Lys) single nucleotide variant not provided [RCV001389550] Chr7:120856762 [GRCh38]
Chr7:120496816 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.194C>T (p.Pro65Leu) single nucleotide variant not provided [RCV001377169] Chr7:120838868 [GRCh38]
Chr7:120478922 [GRCh37]
Chr7:7q31.31
likely pathogenic
NC_000007.13:g.(?_120428646)_(120446746_?)del deletion not provided [RCV001384238] Chr7:120428646..120446746 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.351G>A (p.Gln117=) single nucleotide variant not provided [RCV001510792] Chr7:120815738 [GRCh38]
Chr7:120455792 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.67-6C>T single nucleotide variant not provided [RCV001486776] Chr7:120840115 [GRCh38]
Chr7:120480169 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.612+8C>T single nucleotide variant not provided [RCV001464771] Chr7:120806541 [GRCh38]
Chr7:120446595 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.774C>T (p.Asp258=) single nucleotide variant not provided [RCV001504752] Chr7:120788736 [GRCh38]
Chr7:120428790 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.67-9del deletion not provided [RCV001515031] Chr7:120840118 [GRCh38]
Chr7:120480172 [GRCh37]
Chr7:7q31.31
benign
NM_012338.4(TSPAN12):c.547del (p.Val183fs) deletion not provided [RCV001384324] Chr7:120806614 [GRCh38]
Chr7:120446668 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.540C>T (p.Ser180=) single nucleotide variant not provided [RCV003108286] Chr7:120806621 [GRCh38]
Chr7:120446675 [GRCh37]
Chr7:7q31.31
likely benign
Single allele deletion Delayed speech and language development [RCV002251690] Chr7:114888786..124720929 [GRCh37]
Chr7:7q31.2-31.33
likely pathogenic
NM_012338.4(TSPAN12):c.612+1G>T single nucleotide variant Exudative vitreoretinopathy 5 [RCV002251293] Chr7:120806548 [GRCh38]
Chr7:120446602 [GRCh37]
Chr7:7q31.31
likely pathogenic
NM_012338.4(TSPAN12):c.602T>G (p.Leu201Arg) single nucleotide variant not provided [RCV001754226] Chr7:120806559 [GRCh38]
Chr7:120446613 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.176_179del (p.Tyr59fs) microsatellite Exudative vitreoretinopathy 5 [RCV001814865] Chr7:120838883..120838886 [GRCh38]
Chr7:120478937..120478940 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.907GAG[1] (p.Glu304del) microsatellite not provided [RCV001950504] Chr7:120788598..120788600 [GRCh38]
Chr7:120428652..120428654 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.236T>A (p.Met79Lys) single nucleotide variant not provided [RCV001971091] Chr7:120838826 [GRCh38]
Chr7:120478880 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.581del (p.His194fs) deletion not provided [RCV001864356] Chr7:120806580 [GRCh38]
Chr7:120446634 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.449G>T (p.Trp150Leu) single nucleotide variant not provided [RCV001895439] Chr7:120810482 [GRCh38]
Chr7:120450536 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.175T>G (p.Tyr59Asp) single nucleotide variant not provided [RCV001896514] Chr7:120838887 [GRCh38]
Chr7:120478941 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.55C>G (p.Leu19Val) single nucleotide variant not provided [RCV001915155] Chr7:120856709 [GRCh38]
Chr7:120496763 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.493T>C (p.Phe165Leu) single nucleotide variant not provided [RCV001890158] Chr7:120806668 [GRCh38]
Chr7:120446722 [GRCh37]
Chr7:7q31.31
uncertain significance
GRCh37/hg19 7q31.31(chr7:120330665-120481519) copy number gain not specified [RCV002053720] Chr7:120330665..120481519 [GRCh37]
Chr7:7q31.31
uncertain significance
GRCh37/hg19 7q31.31(chr7:120268066-120869197) copy number gain not specified [RCV002053719] Chr7:120268066..120869197 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.464G>C (p.Arg155Thr) single nucleotide variant not provided [RCV002020501] Chr7:120810467 [GRCh38]
Chr7:120450521 [GRCh37]
Chr7:7q31.31
uncertain significance
NC_000007.13:g.(?_120478811)_(120480183_?)del deletion not provided [RCV002021435] Chr7:120478811..120480183 [GRCh37]
Chr7:7q31.31
likely pathogenic
NM_012338.4(TSPAN12):c.421C>T (p.Pro141Ser) single nucleotide variant not provided [RCV002024147] Chr7:120810510 [GRCh38]
Chr7:120450564 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.877G>A (p.Ala293Thr) single nucleotide variant not provided [RCV001968408] Chr7:120788633 [GRCh38]
Chr7:120428687 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.434G>A (p.Trp145Ter) single nucleotide variant not provided [RCV001909055] Chr7:120810497 [GRCh38]
Chr7:120450551 [GRCh37]
Chr7:7q31.31
pathogenic
GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489) copy number gain not specified [RCV002053715] Chr7:106984287..128949489 [GRCh37]
Chr7:7q22.3-32.1
pathogenic
NM_012338.4(TSPAN12):c.688A>C (p.Ile230Leu) single nucleotide variant Inborn genetic diseases [RCV002550504]|not provided [RCV002036980] Chr7:120788822 [GRCh38]
Chr7:120428876 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.801C>G (p.Asn267Lys) single nucleotide variant not provided [RCV002036487] Chr7:120788709 [GRCh38]
Chr7:120428763 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.491A>G (p.Tyr164Cys) single nucleotide variant not provided [RCV001993736] Chr7:120806670 [GRCh38]
Chr7:120446724 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.688A>G (p.Ile230Val) single nucleotide variant not provided [RCV001999627] Chr7:120788822 [GRCh38]
Chr7:120428876 [GRCh37]
Chr7:7q31.31
uncertain significance
NC_000007.13:g.(?_119914687)_(120496817_?)del deletion Early myoclonic encephalopathy [RCV001943031] Chr7:119914687..120496817 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.578C>A (p.Ala193Asp) single nucleotide variant not provided [RCV002030789] Chr7:120806583 [GRCh38]
Chr7:120446637 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.481G>A (p.Gly161Arg) single nucleotide variant not provided [RCV002014573] Chr7:120806680 [GRCh38]
Chr7:120446734 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.66+3A>T single nucleotide variant not provided [RCV002047073] Chr7:120856695 [GRCh38]
Chr7:120496749 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.700C>T (p.Gln234Ter) single nucleotide variant not provided [RCV002048592] Chr7:120788810 [GRCh38]
Chr7:120428864 [GRCh37]
Chr7:7q31.31
uncertain significance
NC_000007.13:g.(?_120428646)_(120496817_?)dup duplication not provided [RCV001922905] Chr7:120428646..120496817 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.552A>C (p.Arg184Ser) single nucleotide variant not provided [RCV001993781] Chr7:120806609 [GRCh38]
Chr7:120446663 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.41T>G (p.Leu14Arg) single nucleotide variant Inborn genetic diseases [RCV003375387]|not provided [RCV001905333] Chr7:120856723 [GRCh38]
Chr7:120496777 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.700C>A (p.Gln234Lys) single nucleotide variant not provided [RCV001975925] Chr7:120788810 [GRCh38]
Chr7:120428864 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.514A>T (p.Thr172Ser) single nucleotide variant not provided [RCV001990602] Chr7:120806647 [GRCh38]
Chr7:120446701 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.882C>G (p.Asn294Lys) single nucleotide variant not provided [RCV001977348] Chr7:120788628 [GRCh38]
Chr7:120428682 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.361-2A>G single nucleotide variant not provided [RCV001978303] Chr7:120810572 [GRCh38]
Chr7:120450626 [GRCh37]
Chr7:7q31.31
likely pathogenic
NM_012338.4(TSPAN12):c.543C>A (p.Cys181Ter) single nucleotide variant not provided [RCV001972576] Chr7:120806618 [GRCh38]
Chr7:120446672 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.285+3del deletion not provided [RCV001924701] Chr7:120838774 [GRCh38]
Chr7:120478828 [GRCh37]
Chr7:7q31.31
uncertain significance
NC_000007.13:g.(?_120428646)_(120428971_?)dup duplication not provided [RCV002026073] Chr7:120428646..120428971 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.745T>C (p.Tyr249His) single nucleotide variant not provided [RCV001904057] Chr7:120788765 [GRCh38]
Chr7:120428819 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.148A>T (p.Arg50Trp) single nucleotide variant not provided [RCV002032216] Chr7:120840028 [GRCh38]
Chr7:120480082 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.767G>A (p.Gly256Glu) single nucleotide variant not provided [RCV001991424] Chr7:120788743 [GRCh38]
Chr7:120428797 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.816A>C (p.Ser272=) single nucleotide variant not provided [RCV002075993] Chr7:120788694 [GRCh38]
Chr7:120428748 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.225C>T (p.Ile75=) single nucleotide variant not provided [RCV002106655] Chr7:120838837 [GRCh38]
Chr7:120478891 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.249T>C (p.Cys83=) single nucleotide variant not provided [RCV002188107] Chr7:120838813 [GRCh38]
Chr7:120478867 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.67-14T>C single nucleotide variant not provided [RCV002206415] Chr7:120840123 [GRCh38]
Chr7:120480177 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.432G>A (p.Arg144=) single nucleotide variant not provided [RCV002166407] Chr7:120810499 [GRCh38]
Chr7:120450553 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.489A>G (p.Val163=) single nucleotide variant not provided [RCV002185650] Chr7:120806672 [GRCh38]
Chr7:120446726 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.361-17T>C single nucleotide variant not provided [RCV002185998] Chr7:120810587 [GRCh38]
Chr7:120450641 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.195G>T (p.Pro65=) single nucleotide variant not provided [RCV002173923] Chr7:120838867 [GRCh38]
Chr7:120478921 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.315T>C (p.Cys105=) single nucleotide variant not provided [RCV002193842] Chr7:120815774 [GRCh38]
Chr7:120455828 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.870A>G (p.Thr290=) single nucleotide variant not provided [RCV002220144] Chr7:120788640 [GRCh38]
Chr7:120428694 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.640T>C (p.Leu214=) single nucleotide variant not provided [RCV002175671] Chr7:120788870 [GRCh38]
Chr7:120428924 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.735C>T (p.Leu245=) single nucleotide variant not provided [RCV002124236] Chr7:120788775 [GRCh38]
Chr7:120428829 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.67-4C>T single nucleotide variant not provided [RCV002156380] Chr7:120840113 [GRCh38]
Chr7:120480167 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.613-15G>A single nucleotide variant not provided [RCV002156469] Chr7:120788912 [GRCh38]
Chr7:120428966 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.468+13A>G single nucleotide variant not provided [RCV002156634] Chr7:120810450 [GRCh38]
Chr7:120450504 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.636C>T (p.Ser212=) single nucleotide variant not provided [RCV002218386] Chr7:120788874 [GRCh38]
Chr7:120428928 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.375G>A (p.Trp125Ter) single nucleotide variant not provided [RCV003112195] Chr7:120810556 [GRCh38]
Chr7:120450610 [GRCh37]
Chr7:7q31.31
pathogenic
NC_000007.13:g.(?_120387715)_(120428971_?)dup duplication Early myoclonic encephalopathy [RCV003116581] Chr7:120387715..120428971 [GRCh37]
Chr7:7q31.31
uncertain significance
NC_000007.13:g.(?_120478811)_(120478986_?)del deletion not provided [RCV003116591] Chr7:120478811..120478986 [GRCh37]
Chr7:7q31.31
pathogenic
NC_000007.13:g.(?_120428646)_(120446766_?)del deletion not provided [RCV003116592] Chr7:120428646..120446766 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.345T>G (p.Tyr115Ter) single nucleotide variant Exudative vitreoretinopathy 5 [RCV002251264] Chr7:120815744 [GRCh38]
Chr7:120455798 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.283T>C (p.Trp95Arg) single nucleotide variant Exudative vitreoretinopathy 5 [RCV002283637] Chr7:120838779 [GRCh38]
Chr7:120478833 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.32G>A (p.Arg11His) single nucleotide variant Exudative vitreoretinopathy 5 [RCV002283717] Chr7:120856732 [GRCh38]
Chr7:120496786 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.214T>C (p.Cys72Arg) single nucleotide variant Exudative vitreoretinopathy 5 [RCV002273228] Chr7:120838848 [GRCh38]
Chr7:120478902 [GRCh37]
Chr7:7q31.31
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_012338.4(TSPAN12):c.277C>T (p.Leu93Phe) single nucleotide variant Exudative vitreoretinopathy 5 [RCV002283753] Chr7:120838785 [GRCh38]
Chr7:120478839 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.313T>C (p.Cys105Arg) single nucleotide variant Exudative vitreoretinopathy 5 [RCV002283917] Chr7:120815776 [GRCh38]
Chr7:120455830 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.502T>C (p.Trp168Arg) single nucleotide variant Exudative vitreoretinopathy 5 [RCV003389511]|not provided [RCV002303685] Chr7:120806659 [GRCh38]
Chr7:120446713 [GRCh37]
Chr7:7q31.31
likely pathogenic|uncertain significance
NM_012338.4(TSPAN12):c.577G>A (p.Ala193Thr) single nucleotide variant not provided [RCV002303936] Chr7:120806584 [GRCh38]
Chr7:120446638 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.145A>G (p.Thr49Ala) single nucleotide variant not provided [RCV002302146] Chr7:120840031 [GRCh38]
Chr7:120480085 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.569C>T (p.Ser190Phe) single nucleotide variant not provided [RCV002295203] Chr7:120806592 [GRCh38]
Chr7:120446646 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.150G>T (p.Arg50Ser) single nucleotide variant not provided [RCV002837749] Chr7:120838912 [GRCh38]
Chr7:120478966 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.79A>G (p.Ser27Gly) single nucleotide variant not provided [RCV002750761] Chr7:120840097 [GRCh38]
Chr7:120480151 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.282A>G (p.Ala94=) single nucleotide variant not provided [RCV002734896] Chr7:120838780 [GRCh38]
Chr7:120478834 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.916del (p.Ter306LysextTer?) deletion not provided [RCV002880584] Chr7:120788594 [GRCh38]
Chr7:120428648 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.315T>G (p.Cys105Trp) single nucleotide variant not provided [RCV003016611] Chr7:120815774 [GRCh38]
Chr7:120455828 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.356T>A (p.Leu119His) single nucleotide variant not provided [RCV002861312] Chr7:120815733 [GRCh38]
Chr7:120455787 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.547G>A (p.Val183Ile) single nucleotide variant not provided [RCV002681686] Chr7:120806614 [GRCh38]
Chr7:120446668 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.469-12T>A single nucleotide variant not provided [RCV002863689] Chr7:120806704 [GRCh38]
Chr7:120446758 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.101G>A (p.Trp34Ter) single nucleotide variant not provided [RCV002867792] Chr7:120840075 [GRCh38]
Chr7:120480129 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.396del (p.Ala133fs) deletion not provided [RCV002889499] Chr7:120810535 [GRCh38]
Chr7:120450589 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.359T>C (p.Met120Thr) single nucleotide variant not provided [RCV002593245] Chr7:120815730 [GRCh38]
Chr7:120455784 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.241G>A (p.Gly81Arg) single nucleotide variant not provided [RCV002889642] Chr7:120838821 [GRCh38]
Chr7:120478875 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.612+4A>G single nucleotide variant not provided [RCV002659105] Chr7:120806545 [GRCh38]
Chr7:120446599 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.360+19T>C single nucleotide variant not provided [RCV002690865] Chr7:120815710 [GRCh38]
Chr7:120455764 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.67-2A>C single nucleotide variant not provided [RCV002866971] Chr7:120840111 [GRCh38]
Chr7:120480165 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.42C>G (p.Leu14=) single nucleotide variant not provided [RCV002867451] Chr7:120856722 [GRCh38]
Chr7:120496776 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.807G>T (p.Gln269His) single nucleotide variant not provided [RCV003053799] Chr7:120788703 [GRCh38]
Chr7:120428757 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.762G>T (p.Glu254Asp) single nucleotide variant not provided [RCV002639925] Chr7:120788748 [GRCh38]
Chr7:120428802 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.682A>G (p.Ile228Val) single nucleotide variant not provided [RCV002639620] Chr7:120788828 [GRCh38]
Chr7:120428882 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.909G>A (p.Glu303=) single nucleotide variant not provided [RCV002667957] Chr7:120788601 [GRCh38]
Chr7:120428655 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.286-13T>C single nucleotide variant not provided [RCV002575438] Chr7:120815816 [GRCh38]
Chr7:120455870 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.587A>G (p.Glu196Gly) single nucleotide variant not provided [RCV002701052] Chr7:120806574 [GRCh38]
Chr7:120446628 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.154G>A (p.Glu52Lys) single nucleotide variant not provided [RCV002918650] Chr7:120838908 [GRCh38]
Chr7:120478962 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.613-18C>T single nucleotide variant not provided [RCV002627260] Chr7:120788915 [GRCh38]
Chr7:120428969 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.255G>A (p.Thr85=) single nucleotide variant not provided [RCV002643524] Chr7:120838807 [GRCh38]
Chr7:120478861 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.151G>A (p.Val51Ile) single nucleotide variant not provided [RCV002894784] Chr7:120838911 [GRCh38]
Chr7:120478965 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV003060748] Chr7:120856759 [GRCh38]
Chr7:120496813 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.366A>G (p.Pro122=) single nucleotide variant not provided [RCV002646519] Chr7:120810565 [GRCh38]
Chr7:120450619 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.91G>A (p.Val31Ile) single nucleotide variant not provided [RCV003045283] Chr7:120840085 [GRCh38]
Chr7:120480139 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.723C>A (p.Thr241=) single nucleotide variant not provided [RCV002962727] Chr7:120788787 [GRCh38]
Chr7:120428841 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.74C>T (p.Ser25Phe) single nucleotide variant not provided [RCV002650466] Chr7:120840102 [GRCh38]
Chr7:120480156 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.724A>G (p.Ile242Val) single nucleotide variant Inborn genetic diseases [RCV002855884] Chr7:120788786 [GRCh38]
Chr7:120428840 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.150-19A>T single nucleotide variant not provided [RCV002598173] Chr7:120838931 [GRCh38]
Chr7:120478985 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.69A>G (p.Leu23=) single nucleotide variant not provided [RCV002962434] Chr7:120840107 [GRCh38]
Chr7:120480161 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.897C>A (p.His299Gln) single nucleotide variant not provided [RCV002585814] Chr7:120788613 [GRCh38]
Chr7:120428667 [GRCh37]
Chr7:7q31.31
uncertain significance
NM_012338.4(TSPAN12):c.426A>G (p.Arg142=) single nucleotide variant not provided [RCV003069070] Chr7:120810505 [GRCh38]
Chr7:120450559 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.297T>C (p.Ser99=) single nucleotide variant not provided [RCV003570997] Chr7:120815792 [GRCh38]
Chr7:120455846 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.295del (p.Ser99fs) deletion not provided [RCV003690251] Chr7:120815794 [GRCh38]
Chr7:120455848 [GRCh37]
Chr7:7q31.31
pathogenic
NM_012338.4(TSPAN12):c.165C>A (p.Val55=) single nucleotide variant not provided [RCV003715489] Chr7:120838897 [GRCh38]
Chr7:120478951 [GRCh37]
Chr7:7q31.31
likely benign
NM_012338.4(TSPAN12):c.66+1del deletion Exudative vitreoretinopathy 5 [RCV003598858] Chr7:120856697 [GRCh38]
Chr7:120496751 [GRCh37]
Chr7:7q31.31
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1091
Count of miRNA genes:638
Interacting mature miRNAs:722
Transcripts:ENST00000222747, ENST00000415871, ENST00000424710, ENST00000430985, ENST00000433758, ENST00000441017, ENST00000450414
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
GDB:6028556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,491,912 - 120,492,001UniSTSGRCh37
Build 367120,279,148 - 120,279,237RGDNCBI36
Celera7115,301,431 - 115,301,520RGD
Cytogenetic Map7q31.31UniSTS
HuRef7114,855,091 - 114,855,180UniSTS
CRA_TCAGchr7v27119,887,004 - 119,887,093UniSTS
RH46586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,427,457 - 120,427,615UniSTSGRCh37
Build 367120,214,693 - 120,214,851RGDNCBI36
Celera7115,236,960 - 115,237,118RGD
Cytogenetic Map7q31.31UniSTS
HuRef7114,790,619 - 114,790,777UniSTS
CRA_TCAGchr7v27119,822,533 - 119,822,691UniSTS
TM4SF12_9367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,427,329 - 120,427,996UniSTSGRCh37
Build 367120,214,565 - 120,215,232RGDNCBI36
Celera7115,236,832 - 115,237,499RGD
HuRef7114,790,491 - 114,791,158UniSTS
CRA_TCAGchr7v27119,822,405 - 119,823,072UniSTS
STS-H69524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,439,240 - 120,439,361UniSTSGRCh37
Build 367120,226,476 - 120,226,597RGDNCBI36
Celera7115,248,747 - 115,248,868RGD
Cytogenetic Map7q31.31UniSTS
HuRef7114,802,405 - 114,802,526UniSTS
CRA_TCAGchr7v27119,834,320 - 119,834,441UniSTS
GeneMap99-GB4 RH Map7556.47UniSTS
NCBI RH Map71114.5UniSTS


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 1197 1455 1278 339 741 209 1369 326 266 348 374 1438 134 687 704 3
Low 1236 773 437 281 260 251 2810 1789 3425 69 1057 157 34 517 1987 1 2
Below cutoff 2 582 7 4 650 5 169 77 16 2 20 13 3 97 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF124522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF338835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI964728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000222747   ⟹   ENSP00000222747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,787,320 - 120,858,144 (-)Ensembl
RefSeq Acc Id: ENST00000415871   ⟹   ENSP00000397699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,788,374 - 120,858,323 (-)Ensembl
RefSeq Acc Id: ENST00000424710   ⟹   ENSP00000404942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,815,751 - 120,857,199 (-)Ensembl
RefSeq Acc Id: ENST00000430985   ⟹   ENSP00000388819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,838,777 - 120,858,402 (-)Ensembl
RefSeq Acc Id: ENST00000433758   ⟹   ENSP00000399059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,815,729 - 120,857,353 (-)Ensembl
RefSeq Acc Id: ENST00000441017   ⟹   ENSP00000411158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,810,489 - 120,857,124 (-)Ensembl
RefSeq Acc Id: ENST00000450414   ⟹   ENSP00000397411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,788,322 - 120,838,797 (-)Ensembl
RefSeq Acc Id: NM_012338   ⟹   NP_036470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,787,320 - 120,858,144 (-)NCBI
GRCh377120,427,374 - 120,498,420 (-)NCBI
Build 367120,214,610 - 120,285,413 (-)NCBI Archive
Celera7115,236,877 - 115,307,696 (-)RGD
HuRef7114,790,536 - 114,861,356 (-)ENTREZGENE
CHM1_17120,360,669 - 120,431,498 (-)NCBI
T2T-CHM13v2.07122,102,649 - 122,173,489 (-)NCBI
CRA_TCAGchr7v27119,822,450 - 119,893,269 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005250239   ⟹   XP_005250296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,787,320 - 120,858,335 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420095   ⟹   XP_047276051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,787,320 - 120,858,335 (-)NCBI
RefSeq Acc Id: XM_047420096   ⟹   XP_047276052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,787,320 - 120,858,335 (-)NCBI
RefSeq Acc Id: XM_047420097   ⟹   XP_047276053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,787,320 - 120,814,246 (-)NCBI
RefSeq Acc Id: XM_054357716   ⟹   XP_054213691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,102,649 - 122,173,668 (-)NCBI
RefSeq Acc Id: XM_054357717   ⟹   XP_054213692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,102,649 - 122,172,703 (-)NCBI
RefSeq Acc Id: XM_054357718   ⟹   XP_054213693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,102,649 - 122,172,834 (-)NCBI
RefSeq Acc Id: XM_054357719   ⟹   XP_054213694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,102,649 - 122,173,005 (-)NCBI
RefSeq Acc Id: XM_054357720   ⟹   XP_054213695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,102,649 - 122,173,766 (-)NCBI
RefSeq Acc Id: XM_054357721   ⟹   XP_054213696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,102,649 - 122,172,368 (-)NCBI
RefSeq Acc Id: XM_054357722   ⟹   XP_054213697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,102,649 - 122,172,385 (-)NCBI
RefSeq Acc Id: XM_054357723   ⟹   XP_054213698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,102,649 - 122,173,489 (-)NCBI
RefSeq Acc Id: XM_054357724   ⟹   XP_054213699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,102,649 - 122,173,715 (-)NCBI
RefSeq Acc Id: XM_054357725   ⟹   XP_054213700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,102,649 - 122,129,583 (-)NCBI
Protein Sequences
Protein RefSeqs NP_036470 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250296 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276051 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276052 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213691 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213692 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213693 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213694 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213695 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213696 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213697 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213698 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213699 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213700 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD17317 (Get FASTA)   NCBI Sequence Viewer  
  AAH31265 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89066 (Get FASTA)   NCBI Sequence Viewer  
  AAQ96879 (Get FASTA)   NCBI Sequence Viewer  
  BAG35172 (Get FASTA)   NCBI Sequence Viewer  
  BAG61278 (Get FASTA)   NCBI Sequence Viewer  
  EAL24349 (Get FASTA)   NCBI Sequence Viewer  
  EAW83543 (Get FASTA)   NCBI Sequence Viewer  
  EAW83544 (Get FASTA)   NCBI Sequence Viewer  
  EAW83545 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000222747
  ENSP00000222747.3
  ENSP00000388819.1
  ENSP00000397411.1
  ENSP00000397699
  ENSP00000397699.1
  ENSP00000399059.1
  ENSP00000404942.1
  ENSP00000411158.1
GenBank Protein O95859 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_036470   ⟸   NM_012338
- UniProtKB: Q549U9 (UniProtKB/Swiss-Prot),   B4DRG6 (UniProtKB/Swiss-Prot),   A4D0V8 (UniProtKB/Swiss-Prot),   Q8N5Y0 (UniProtKB/Swiss-Prot),   O95859 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250296   ⟸   XM_005250239
- Peptide Label: isoform X1
- UniProtKB: Q549U9 (UniProtKB/Swiss-Prot),   B4DRG6 (UniProtKB/Swiss-Prot),   A4D0V8 (UniProtKB/Swiss-Prot),   Q8N5Y0 (UniProtKB/Swiss-Prot),   O95859 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000404942   ⟸   ENST00000424710
RefSeq Acc Id: ENSP00000397411   ⟸   ENST00000450414
RefSeq Acc Id: ENSP00000397699   ⟸   ENST00000415871
RefSeq Acc Id: ENSP00000411158   ⟸   ENST00000441017
RefSeq Acc Id: ENSP00000388819   ⟸   ENST00000430985
RefSeq Acc Id: ENSP00000222747   ⟸   ENST00000222747
RefSeq Acc Id: ENSP00000399059   ⟸   ENST00000433758
RefSeq Acc Id: XP_047276052   ⟸   XM_047420096
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047276051   ⟸   XM_047420095
- Peptide Label: isoform X1
- UniProtKB: Q549U9 (UniProtKB/Swiss-Prot),   O95859 (UniProtKB/Swiss-Prot),   B4DRG6 (UniProtKB/Swiss-Prot),   A4D0V8 (UniProtKB/Swiss-Prot),   Q8N5Y0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047276053   ⟸   XM_047420097
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054213695   ⟸   XM_054357720
- Peptide Label: isoform X1
- UniProtKB: Q549U9 (UniProtKB/Swiss-Prot),   O95859 (UniProtKB/Swiss-Prot),   B4DRG6 (UniProtKB/Swiss-Prot),   A4D0V8 (UniProtKB/Swiss-Prot),   Q8N5Y0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054213699   ⟸   XM_054357724
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213691   ⟸   XM_054357716
- Peptide Label: isoform X1
- UniProtKB: Q549U9 (UniProtKB/Swiss-Prot),   O95859 (UniProtKB/Swiss-Prot),   B4DRG6 (UniProtKB/Swiss-Prot),   A4D0V8 (UniProtKB/Swiss-Prot),   Q8N5Y0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054213698   ⟸   XM_054357723
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213694   ⟸   XM_054357719
- Peptide Label: isoform X1
- UniProtKB: Q549U9 (UniProtKB/Swiss-Prot),   O95859 (UniProtKB/Swiss-Prot),   B4DRG6 (UniProtKB/Swiss-Prot),   A4D0V8 (UniProtKB/Swiss-Prot),   Q8N5Y0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054213693   ⟸   XM_054357718
- Peptide Label: isoform X1
- UniProtKB: Q549U9 (UniProtKB/Swiss-Prot),   O95859 (UniProtKB/Swiss-Prot),   B4DRG6 (UniProtKB/Swiss-Prot),   A4D0V8 (UniProtKB/Swiss-Prot),   Q8N5Y0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054213692   ⟸   XM_054357717
- Peptide Label: isoform X1
- UniProtKB: Q549U9 (UniProtKB/Swiss-Prot),   O95859 (UniProtKB/Swiss-Prot),   B4DRG6 (UniProtKB/Swiss-Prot),   A4D0V8 (UniProtKB/Swiss-Prot),   Q8N5Y0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054213697   ⟸   XM_054357722
- Peptide Label: isoform X1
- UniProtKB: Q549U9 (UniProtKB/Swiss-Prot),   O95859 (UniProtKB/Swiss-Prot),   B4DRG6 (UniProtKB/Swiss-Prot),   A4D0V8 (UniProtKB/Swiss-Prot),   Q8N5Y0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054213696   ⟸   XM_054357721
- Peptide Label: isoform X1
- UniProtKB: Q549U9 (UniProtKB/Swiss-Prot),   O95859 (UniProtKB/Swiss-Prot),   B4DRG6 (UniProtKB/Swiss-Prot),   A4D0V8 (UniProtKB/Swiss-Prot),   Q8N5Y0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054213700   ⟸   XM_054357725
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95859-F1-model_v2 AlphaFold O95859 1-305 view protein structure

Promoters
RGD ID:6806320
Promoter ID:HG_KWN:59466
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000346953
Position:
Human AssemblyChrPosition (strand)Source
Build 367120,265,629 - 120,266,129 (-)MPROMDB
RGD ID:6806321
Promoter ID:HG_KWN:59467
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000346951,   OTTHUMT00000346952,   OTTHUMT00000346954,   OTTHUMT00000346955,   OTTHUMT00000346956,   OTTHUMT00000346957
Position:
Human AssemblyChrPosition (strand)Source
Build 367120,284,416 - 120,285,482 (-)MPROMDB
RGD ID:7211779
Promoter ID:EPDNEW_H11636
Type:initiation region
Name:TSPAN12_2
Description:tetraspanin 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11637  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,857,992 - 120,858,052EPDNEW
RGD ID:7211781
Promoter ID:EPDNEW_H11637
Type:initiation region
Name:TSPAN12_1
Description:tetraspanin 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11636  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,858,330 - 120,858,390EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21641 AgrOrtholog
COSMIC TSPAN12 COSMIC
Ensembl Genes ENSG00000106025 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222747 ENTREZGENE
  ENST00000222747.8 UniProtKB/Swiss-Prot
  ENST00000415871 ENTREZGENE
  ENST00000415871.5 UniProtKB/Swiss-Prot
  ENST00000424710.5 UniProtKB/TrEMBL
  ENST00000430985.1 UniProtKB/TrEMBL
  ENST00000433758.5 UniProtKB/TrEMBL
  ENST00000441017.5 UniProtKB/TrEMBL
  ENST00000450414.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1450.10 UniProtKB/Swiss-Prot
GTEx ENSG00000106025 GTEx
HGNC ID HGNC:21641 ENTREZGENE
Human Proteome Map TSPAN12 Human Proteome Map
InterPro Tetraspanin UniProtKB/Swiss-Prot
  Tetraspanin/Peripherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tetraspanin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tetraspanin_EC2_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23554 UniProtKB/Swiss-Prot
NCBI Gene 23554 ENTREZGENE
OMIM 613138 OMIM
PANTHER PTHR19282 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TETRASPANIN-12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tetraspanin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134954047 PharmGKB
PIRSF Tetraspanin UniProtKB/Swiss-Prot
PRINTS TMFOUR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TM4_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48652 UniProtKB/Swiss-Prot
UniProt A4D0V8 ENTREZGENE
  B4DRG6 ENTREZGENE
  C9IZ82_HUMAN UniProtKB/TrEMBL
  C9J9U1_HUMAN UniProtKB/TrEMBL
  C9JC05_HUMAN UniProtKB/TrEMBL
  C9JQM0_HUMAN UniProtKB/TrEMBL
  H7C0X9_HUMAN UniProtKB/TrEMBL
  O95859 ENTREZGENE
  Q549U9 ENTREZGENE
  Q8N5Y0 ENTREZGENE
  TSN12_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A4D0V8 UniProtKB/Swiss-Prot
  B4DRG6 UniProtKB/Swiss-Prot
  Q549U9 UniProtKB/Swiss-Prot
  Q8N5Y0 UniProtKB/Swiss-Prot