SEMA3A (semaphorin 3A) - Rat Genome Database

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Gene: SEMA3A (semaphorin 3A) Homo sapiens
Analyze
Symbol: SEMA3A
Name: semaphorin 3A
RGD ID: 730921
HGNC Page HGNC:10723
Description: Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Involved in negative regulation of neuron projection development; olfactory bulb development; and regulation of axon extension involved in axon guidance. Predicted to be located in extracellular region. Predicted to be active in axon and extracellular space. Predicted to be integral component of plasma membrane. Implicated in hypogonadotropic hypogonadism 16 with or without anosmia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: coll-1; COLL1; collapsin 1; HH16; Hsema-I; Hsema-III; MGC133243; sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A; SEMA1; SEMAD; SEMAIII; SEMAL; semaphorin D; semaphorin III; semaphorin L; semaphorin-3A; semaphorin-like; SemD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh38783,955,777 - 84,492,725 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl783,955,777 - 84,492,724 (-)EnsemblGRCh38hg38GRCh38
GRCh37783,585,093 - 83,824,105 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36783,425,595 - 83,662,153 (-)NCBINCBI36hg18NCBI36
Build 34783,235,140 - 83,468,560NCBI
Celera778,289,042 - 78,525,324 (-)NCBI
Cytogenetic Map7q21.11NCBI
HuRef778,196,709 - 78,433,239 (-)NCBIHuRef
CHM1_1783,517,590 - 83,754,442 (-)NCBICHM1_1
T2T-CHM13v2.0785,206,156 - 85,444,786 (-)NCBI
CRA_TCAGchr7v2782,919,781 - 83,156,009 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-azacytidine  (EXP)
5-fluorouracil  (EXP)
acetamide  (ISO)
acetic acid  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (EXP,ISO)
bromochloroacetic acid  (ISO)
bucladesine  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (EXP,ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
deoxynivalenol  (EXP)
diarsenic trioxide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
hexaconazole  (ISO)
medroxyprogesterone acetate  (EXP)
methotrexate  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
PD 0325901  (EXP)
potassium chromate  (EXP)
raloxifene  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA,ISO)
axon extension  (ISO)
axon extension involved in axon guidance  (ISO,ISS)
axon guidance  (IBA,IEA,ISO,TAS)
axonal fasciculation  (IEA,ISO)
axonogenesis involved in innervation  (ISS)
basal dendrite arborization  (ISS,TAS)
branchiomotor neuron axon guidance  (IEA)
cell differentiation  (IEA)
dendrite morphogenesis  (ISO)
dichotomous subdivision of terminal units involved in salivary gland branching  (IEA,ISO)
epithelial cell migration  (ISO)
facial nerve structural organization  (IEA)
facioacoustic ganglion development  (IEA)
gonadotrophin-releasing hormone neuronal migration to the hypothalamus  (IEA)
maintenance of synapse structure  (ISO)
motor neuron axon guidance  (IBA)
negative chemotaxis  (IBA,ISO)
negative regulation of axon extension  (IEA,ISO)
negative regulation of axon extension involved in axon guidance  (IBA,ISO)
negative regulation of epithelial cell migration  (IEA,ISO)
negative regulation of neuron projection development  (IMP)
nerve development  (ISS)
nervous system development  (IEA,ISO)
neural crest cell migration  (IBA)
neural crest cell migration involved in autonomic nervous system development  (ISS)
neural crest cell migration involved in sympathetic nervous system development  (IEA)
neuron migration  (ISS)
olfactory bulb development  (IMP)
positive regulation of cell migration  (IBA)
positive regulation of JNK cascade  (TAS)
positive regulation of male gonad development  (IEA)
positive regulation of neuron migration  (IBA)
regulation of axon extension involved in axon guidance  (IDA)
regulation of heart rate  (IEA,ISO)
semaphorin-plexin signaling pathway  (IBA,ISO,TAS)
semaphorin-plexin signaling pathway involved in axon guidance  (IEA)
semaphorin-plexin signaling pathway involved in neuron projection guidance  (ISS)
sensory system development  (TAS)
sympathetic ganglion development  (ISS)
sympathetic nervous system development  (TAS)
sympathetic neuron projection extension  (ISS)
sympathetic neuron projection guidance  (ISS)
synaptic target recognition  (ISO)
trigeminal ganglion development  (IEA)
trigeminal nerve structural organization  (IEA)
ventral trunk neural crest cell migration  (IEA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal morphology of female internal genitalia  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the voice  (IAGP)
Amenorrhea  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Azoospermia  (IAGP)
Bimanual synkinesia  (IAGP)
Breast hypoplasia  (IAGP)
Cardiac arrest  (IAGP)
Cleft palate  (IAGP)
Color vision defect  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Dysarthria  (IAGP)
Dyspareunia  (IAGP)
Erectile dysfunction  (IAGP)
First degree atrioventricular block  (IAGP)
Gait disturbance  (IAGP)
Gynecomastia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hyposmia  (IAGP)
Hypothalamic gonadotropin-releasing hormone deficiency  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Micropenis  (IAGP)
Muscle weakness  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Paraplegia  (IAGP)
Paroxysmal ventricular tachycardia  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Primary amenorrhea  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Right bundle branch block  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sick sinus syndrome  (IAGP)
Skeletal dysplasia  (IAGP)
ST segment elevation  (IAGP)
Supraventricular tachycardia  (IAGP)
Syncope  (IAGP)
Tooth agenesis  (IAGP)
Tremor  (IAGP)
Trifascicular block  (IAGP)
Ventricular fibrillation  (IAGP)
Visual impairment  (IAGP)
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:7748561   PMID:8269517   PMID:8889548   PMID:9331348   PMID:10196546   PMID:10520994   PMID:11604131   PMID:11886873   PMID:12456642   PMID:12477932   PMID:12610647   PMID:12690205  
PMID:12730958   PMID:12853948   PMID:12879061   PMID:14500350   PMID:14656993   PMID:15080899   PMID:15485501   PMID:15517571   PMID:15550623   PMID:15831706   PMID:16085543   PMID:16330548  
PMID:16380453   PMID:16424390   PMID:16672672   PMID:16684957   PMID:16791896   PMID:17369353   PMID:17390026   PMID:17569671   PMID:17607942   PMID:17631638   PMID:17684500   PMID:17989695  
PMID:18053124   PMID:18056484   PMID:18160633   PMID:18272814   PMID:18443354   PMID:18625544   PMID:18787945   PMID:18818766   PMID:18831963   PMID:19296128   PMID:19480842   PMID:19684614  
PMID:19817889   PMID:19855168   PMID:19886821   PMID:19909241   PMID:19957197   PMID:20051117   PMID:20301509   PMID:20301690   PMID:20379614   PMID:20382125   PMID:20655307   PMID:21205984  
PMID:21593320   PMID:21656899   PMID:21784300   PMID:21835309   PMID:21842119   PMID:21873635   PMID:21878545   PMID:21884206   PMID:21953086   PMID:22093159   PMID:22184102   PMID:22210626  
PMID:22416012   PMID:22497252   PMID:22565412   PMID:22683681   PMID:22685328   PMID:22697500   PMID:22875653   PMID:22927827   PMID:23251661   PMID:23343469   PMID:23372769   PMID:23398122  
PMID:23453885   PMID:23593010   PMID:23906303   PMID:24124006   PMID:24213571   PMID:24380401   PMID:24461079   PMID:24522099   PMID:24589620   PMID:24673430   PMID:24713604   PMID:24727891  
PMID:24756974   PMID:24963029   PMID:25050899   PMID:25289643   PMID:25331060   PMID:25335892   PMID:25421946   PMID:25475434   PMID:25560370   PMID:25651171   PMID:25666438   PMID:25812535  
PMID:25895648   PMID:25955818   PMID:25973043   PMID:26121211   PMID:26201903   PMID:26364614   PMID:26432853   PMID:26580097   PMID:26602825   PMID:26865270   PMID:27157528   PMID:27197153  
PMID:27203398   PMID:27351132   PMID:27469503   PMID:27702942   PMID:27769863   PMID:27782869   PMID:27787850   PMID:27787852   PMID:27787860   PMID:27791986   PMID:28075028   PMID:28188869  
PMID:28498470   PMID:28502679   PMID:28502680   PMID:28636974   PMID:28893946   PMID:29016743   PMID:29071344   PMID:29111592   PMID:29129044   PMID:29199452   PMID:29203371   PMID:29288007  
PMID:29432577   PMID:29457037   PMID:29656374   PMID:29720701   PMID:29740048   PMID:29763494   PMID:29898965   PMID:29961565   PMID:30155491   PMID:30304095   PMID:30378769   PMID:30579864  
PMID:30587593   PMID:30597767   PMID:30661929   PMID:30862786   PMID:30967873   PMID:31059116   PMID:31218581   PMID:31305177   PMID:31394943   PMID:31566924   PMID:31929841   PMID:31945349  
PMID:32060892   PMID:32074456   PMID:32325105   PMID:32460013   PMID:32516239   PMID:32612575   PMID:32926524   PMID:33190429   PMID:33302912   PMID:33369061   PMID:33501702   PMID:33761786  
PMID:33896139   PMID:33961781   PMID:34006365   PMID:34562225   PMID:34927690   PMID:35460904  


Genomics

Comparative Map Data
SEMA3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38783,955,777 - 84,492,725 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl783,955,777 - 84,492,724 (-)EnsemblGRCh38hg38GRCh38
GRCh37783,585,093 - 83,824,105 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36783,425,595 - 83,662,153 (-)NCBINCBI36hg18NCBI36
Build 34783,235,140 - 83,468,560NCBI
Celera778,289,042 - 78,525,324 (-)NCBI
Cytogenetic Map7q21.11NCBI
HuRef778,196,709 - 78,433,239 (-)NCBIHuRef
CHM1_1783,517,590 - 83,754,442 (-)NCBICHM1_1
T2T-CHM13v2.0785,206,156 - 85,444,786 (-)NCBI
CRA_TCAGchr7v2782,919,781 - 83,156,009 (-)NCBI
Sema3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39513,174,789 - 13,653,453 (+)NCBIGRCm39mm39
GRCm39 Ensembl513,175,381 - 13,652,533 (+)Ensembl
GRCm38513,124,822 - 13,603,485 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl513,125,414 - 13,602,565 (+)EnsemblGRCm38mm10GRCm38
MGSCv37513,399,309 - 13,602,571 (+)NCBIGRCm37mm9NCBIm37
MGSCv36513,405,315 - 13,608,571 (+)NCBImm8
Celera1223,770,632 - 23,979,473 (+)NCBICelera
Cytogenetic Map5A1NCBI
Sema3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2421,282,398 - 21,754,834 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl421,287,982 - 21,494,432 (-)Ensembl
Rnor_6.0418,170,375 - 18,545,190 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl418,178,656 - 18,396,035 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0418,133,300 - 18,444,520 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4417,575,112 - 17,790,100 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1417,575,111 - 17,790,100 (-)NCBI
Celera416,810,716 - 17,013,648 (-)NCBICelera
Cytogenetic Map4q12NCBI
Sema3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554102,144,388 - 2,338,973 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554102,146,088 - 2,344,342 (+)NCBIChiLan1.0ChiLan1.0
SEMA3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1789,590,353 - 89,827,253 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl789,590,359 - 90,004,122 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0775,929,699 - 76,484,246 (-)NCBIMhudiblu_PPA_v0panPan3
SEMA3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11823,411,607 - 23,866,631 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1823,414,576 - 23,867,098 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1823,096,760 - 23,551,325 (-)NCBI
ROS_Cfam_1.01823,872,684 - 24,326,815 (-)NCBI
ROS_Cfam_1.0 Ensembl1823,872,709 - 24,071,806 (-)Ensembl
UMICH_Zoey_3.11823,522,022 - 23,975,809 (-)NCBI
UNSW_CanFamBas_1.01823,035,644 - 23,490,231 (-)NCBI
UU_Cfam_GSD_1.01823,702,159 - 24,157,050 (-)NCBI
SEMA3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl996,181,770 - 96,387,950 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1995,934,937 - 96,387,950 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SEMA3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12164,723,860 - 64,942,705 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2164,784,039 - 64,939,682 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604239,053,607 - 39,576,492 (-)NCBIVero_WHO_p1.0
Sema3a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473932,105,824 - 32,309,271 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462473932,104,014 - 32,426,980 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D7S820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,789,392 - 83,789,617UniSTSGRCh37
GRCh37783,789,383 - 83,789,484UniSTSGRCh37
Build 36783,627,328 - 83,627,553RGDNCBI36
Celera778,490,409 - 78,490,626RGD
Celera778,490,400 - 78,490,501UniSTS
Cytogenetic Map7p12.1UniSTS
HuRef778,397,881 - 78,398,094UniSTS
HuRef778,397,872 - 78,397,973UniSTS
CRA_TCAGchr7v2783,121,191 - 83,121,408UniSTS
CRA_TCAGchr7v2783,121,182 - 83,121,283UniSTS
Marshfield Genetic Map798.44RGD
deCODE Assembly Map797.88UniSTS
Whitehead-YAC Contig Map7 UniSTS
SHGC-53494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,589,377 - 83,589,551UniSTSGRCh37
Build 36783,427,313 - 83,427,487RGDNCBI36
Celera778,290,760 - 78,290,934RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,198,427 - 78,198,601UniSTS
CRA_TCAGchr7v2782,921,499 - 82,921,673UniSTS
TNG Radiation Hybrid Map736384.0UniSTS
SHGC-56119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,587,674 - 83,587,928UniSTSGRCh37
Build 36783,425,610 - 83,425,864RGDNCBI36
Celera778,289,057 - 78,289,311RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,196,724 - 78,196,978UniSTS
CRA_TCAGchr7v2782,919,796 - 82,920,050UniSTS
GeneMap99-GB4 RH Map7467.78UniSTS
Whitehead-RH Map7440.1UniSTS
G42165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,772,261 - 83,772,473UniSTSGRCh37
Build 36783,610,197 - 83,610,409RGDNCBI36
Celera778,473,319 - 78,473,531RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,380,751 - 78,380,963UniSTS
CRA_TCAGchr7v2783,104,060 - 83,104,272UniSTS
G42251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,786,328 - 83,786,584UniSTSGRCh37
Build 36783,624,264 - 83,624,520RGDNCBI36
Celera778,487,345 - 78,487,601RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,394,817 - 78,395,073UniSTS
CRA_TCAGchr7v2783,118,127 - 83,118,383UniSTS
SHGC-82891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,667,166 - 83,667,493UniSTSGRCh37
Build 36783,505,102 - 83,505,429RGDNCBI36
Celera778,368,551 - 78,368,878RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,276,192 - 78,276,519UniSTS
CRA_TCAGchr7v2782,999,288 - 82,999,615UniSTS
TNG Radiation Hybrid Map736367.0UniSTS
RH119383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,633,886 - 83,634,167UniSTSGRCh37
Build 36783,471,822 - 83,472,103RGDNCBI36
Celera778,335,274 - 78,335,555RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,242,915 - 78,243,196UniSTS
CRA_TCAGchr7v2782,966,007 - 82,966,288UniSTS
TNG Radiation Hybrid Map736374.0UniSTS
RH122163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,759,541 - 83,759,876UniSTSGRCh37
Build 36783,597,477 - 83,597,812RGDNCBI36
Celera778,460,609 - 78,460,944RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,368,051 - 78,368,386UniSTS
CRA_TCAGchr7v2783,091,348 - 83,091,683UniSTS
TNG Radiation Hybrid Map736409.0UniSTS
SHGC-33736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,756,356 - 83,756,487UniSTSGRCh37
Build 36783,594,292 - 83,594,423RGDNCBI36
Celera778,457,419 - 78,457,550RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,364,860 - 78,364,991UniSTS
CRA_TCAGchr7v2783,088,158 - 83,088,289UniSTS
GeneMap99-GB4 RH Map7466.06UniSTS
Whitehead-RH Map7438.4UniSTS
SHGC-106937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,661,438 - 83,661,709UniSTSGRCh37
Build 36783,499,374 - 83,499,645RGDNCBI36
Celera778,362,823 - 78,363,094RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,270,463 - 78,270,734UniSTS
CRA_TCAGchr7v2782,993,560 - 82,993,831UniSTS
TNG Radiation Hybrid Map736367.0UniSTS
SEMA3A_1309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,590,421 - 83,591,126UniSTSGRCh37
Build 36783,428,357 - 83,429,062RGDNCBI36
Celera778,291,804 - 78,292,509RGD
HuRef778,199,471 - 78,200,176UniSTS
CRA_TCAGchr7v2782,922,543 - 82,923,248UniSTS
SEMIII  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,590,783 - 83,591,012UniSTSGRCh37
Build 36783,428,719 - 83,428,948RGDNCBI36
Celera778,292,166 - 78,292,395RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,199,833 - 78,200,062UniSTS
CRA_TCAGchr7v2782,922,905 - 82,923,134UniSTS
D7S1598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,685,337 - 83,685,452UniSTSGRCh37
Build 36783,523,273 - 83,523,388RGDNCBI36
Celera778,386,722 - 78,386,837RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,294,357 - 78,294,472UniSTS
CRA_TCAGchr7v2783,017,459 - 83,017,574UniSTS
GDB:1317948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,635,397 - 83,635,535UniSTSGRCh37
Build 36783,473,333 - 83,473,471RGDNCBI36
Celera778,336,785 - 78,336,923RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,244,426 - 78,244,564UniSTS
CRA_TCAGchr7v2782,967,518 - 82,967,656UniSTS
RH69031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,590,711 - 83,590,924UniSTSGRCh37
Build 36783,428,647 - 83,428,860RGDNCBI36
Celera778,292,094 - 78,292,307RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,199,761 - 78,199,974UniSTS
CRA_TCAGchr7v2782,922,833 - 82,923,046UniSTS
GeneMap99-GB4 RH Map2745.94UniSTS
D7S2366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,659,188 - 83,659,391UniSTSGRCh37
Build 36783,497,124 - 83,497,327RGDNCBI36
Celera778,360,577 - 78,360,780RGD
Cytogenetic Map7p12.1UniSTS
HuRef778,268,215 - 78,268,418UniSTS
CRA_TCAGchr7v2782,991,312 - 82,991,515UniSTS
Whitehead-RH Map7440.9UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S820  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p12.1UniSTS
Cytogenetic Map7q36UniSTS
Marshfield Genetic Map798.44UniSTS
deCODE Assembly Map797.88UniSTS
Whitehead-YAC Contig Map7 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2466
Count of miRNA genes:1008
Interacting mature miRNAs:1246
Transcripts:ENST00000265362, ENST00000420047, ENST00000424555, ENST00000436949, ENST00000448879, ENST00000471474, ENST00000490883
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1061 9 27 14 44 16 225 616 66 39 107 133 6 8 3 1
Low 1203 714 1067 121 580 72 2503 360 2518 135 888 1413 56 1 1181 1324 3
Below cutoff 164 2011 584 447 744 336 1568 1175 1123 216 445 39 110 15 1402 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX743092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM723807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU186364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX491494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR748125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS067216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR002146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265362   ⟹   ENSP00000265362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl783,955,777 - 84,194,789 (-)Ensembl
RefSeq Acc Id: ENST00000420047   ⟹   ENSP00000391900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl784,110,476 - 84,195,161 (-)Ensembl
RefSeq Acc Id: ENST00000424555   ⟹   ENSP00000404800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl784,194,529 - 84,492,724 (-)Ensembl
RefSeq Acc Id: ENST00000436949   ⟹   ENSP00000415260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl783,961,301 - 84,195,445 (-)Ensembl
RefSeq Acc Id: ENST00000448879   ⟹   ENSP00000402093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl784,194,475 - 84,492,549 (-)Ensembl
RefSeq Acc Id: ENST00000471474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl784,306,382 - 84,372,291 (-)Ensembl
RefSeq Acc Id: ENST00000490883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl784,307,207 - 84,372,268 (-)Ensembl
RefSeq Acc Id: NM_006080   ⟹   NP_006071
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38783,955,777 - 84,194,789 (-)NCBI
GRCh37783,587,659 - 84,122,040 (-)NCBI
Build 36783,425,595 - 83,662,153 (-)NCBI Archive
HuRef778,196,709 - 78,433,239 (-)ENTREZGENE
CHM1_1783,517,590 - 83,754,442 (-)NCBI
T2T-CHM13v2.0785,206,156 - 85,444,786 (-)NCBI
CRA_TCAGchr7v2782,919,781 - 83,156,009 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005250110   ⟹   XP_005250167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38783,955,777 - 84,492,725 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419751   ⟹   XP_047275707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38783,955,777 - 84,492,725 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_006071   ⟸   NM_006080
- Peptide Label: precursor
- UniProtKB: Q14563 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250167   ⟸   XM_005250110
- Peptide Label: isoform X1
- UniProtKB: Q14563 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000404800   ⟸   ENST00000424555
RefSeq Acc Id: ENSP00000391900   ⟸   ENST00000420047
RefSeq Acc Id: ENSP00000402093   ⟸   ENST00000448879
RefSeq Acc Id: ENSP00000265362   ⟸   ENST00000265362
RefSeq Acc Id: ENSP00000415260   ⟸   ENST00000436949
RefSeq Acc Id: XP_047275707   ⟸   XM_047419751
- Peptide Label: isoform X1
Protein Domains
Ig-like   Ig-like C2-type   Sema

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14563-F1-model_v2 AlphaFold Q14563 1-771 view protein structure

Promoters
RGD ID:6806177
Promoter ID:HG_KWN:58377
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_006080,   OTTHUMT00000336604,   OTTHUMT00000342239
Position:
Human AssemblyChrPosition (strand)Source
Build 36783,661,949 - 83,662,449 (-)MPROMDB
RGD ID:7210947
Promoter ID:EPDNEW_H11220
Type:initiation region
Name:SEMA3A_2
Description:semaphorin 3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11221  EPDNEW_H11222  EPDNEW_H11223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38784,194,789 - 84,194,849EPDNEW
RGD ID:7210949
Promoter ID:EPDNEW_H11221
Type:initiation region
Name:SEMA3A_1
Description:semaphorin 3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11220  EPDNEW_H11222  EPDNEW_H11223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38784,194,993 - 84,195,053EPDNEW
RGD ID:7210951
Promoter ID:EPDNEW_H11222
Type:initiation region
Name:SEMA3A_3
Description:semaphorin 3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11220  EPDNEW_H11221  EPDNEW_H11223  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38784,492,725 - 84,492,785EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
SEMA3A, 213-KB DEL deletion Hypogonadotropic hypogonadism 16 with or without anosmia [RCV000032920] Chr7:7q21.11 risk factor
SEMA3A, 14-BP DEL, NT1613 deletion Hypogonadotropic hypogonadism 16 with or without anosmia [RCV000032922] Chr7:7q21.11 risk factor
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) single nucleotide variant Hypogonadotropic hypogonadism 16 with or without anosmia [RCV000032921]|not provided [RCV000059788]|not specified [RCV000455242] Chr7:84005396 [GRCh38]
Chr7:83634712 [GRCh37]
Chr7:7q21.11
risk factor|benign|not provided
GRCh38/hg38 7q21.11(chr7:84084970-84963541)x3 copy number gain See cases [RCV000050737] Chr7:84084970..84963541 [GRCh38]
Chr7:83714286..84592857 [GRCh37]
Chr7:83552222..84430793 [NCBI36]
Chr7:7q21.11
uncertain significance
GRCh38/hg38 7q21.11(chr7:81674792-84509195)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052130]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052130]|See cases [RCV000052130] Chr7:81674792..84509195 [GRCh38]
Chr7:81304108..84138511 [GRCh37]
Chr7:81142044..83976447 [NCBI36]
Chr7:7q21.11
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 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val) single nucleotide variant Hypogonadotropic hypogonadism 16 with or without anosmia [RCV000987902]|not provided [RCV000059787] Chr7:84005501 [GRCh38]
Chr7:83634817 [GRCh37]
Chr7:7q21.11
likely benign|uncertain significance|not provided
NM_006080.3(SEMA3A):c.196C>T (p.Arg66Trp) single nucleotide variant not provided [RCV000059789] Chr7:84134868 [GRCh38]
Chr7:83764184 [GRCh37]
Chr7:7q21.11
uncertain significance|not provided
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala) single nucleotide variant Hypogonadotropic hypogonadism 16 with or without anosmia [RCV000987901]|not provided [RCV000059790] Chr7:83961625 [GRCh38]
Chr7:83590941 [GRCh37]
Chr7:7q21.11
uncertain significance|not provided
NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln) single nucleotide variant not provided [RCV000059791] Chr7:83961498 [GRCh38]
Chr7:83590814 [GRCh37]
Chr7:7q21.11
not provided
NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His) single nucleotide variant Hypogonadotropic hypogonadism 16 with or without anosmia [RCV001262880]|not provided [RCV000059792] Chr7:83961489 [GRCh38]
Chr7:83590805 [GRCh37]
Chr7:7q21.11
uncertain significance|not provided
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) single nucleotide variant Amenorrhea [RCV001849309]|Hypogonadotropic hypogonadism 16 with or without anosmia [RCV000987903]|not provided [RCV000059793] Chr7:84060554 [GRCh38]
Chr7:83689870 [GRCh37]
Chr7:7q21.11
likely benign|uncertain significance|not provided
NM_006080.2(SEMA3A):c.667+3110G>T single nucleotide variant Lung cancer [RCV000106541] Chr7:84043214 [GRCh38]
Chr7:83672530 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.2(SEMA3A):c.271-344C>G single nucleotide variant Lung cancer [RCV000106542] Chr7:84129529 [GRCh38]
Chr7:83758845 [GRCh37]
Chr7:7q21.11
uncertain significance
NC_000007.14:g.84233727T>A single nucleotide variant Lung cancer [RCV000106543] Chr7:84233727 [GRCh38]
Chr7:83863043 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.2151A>G (p.Thr717=) single nucleotide variant not provided [RCV001682886]|not specified [RCV000175195] Chr7:83961536 [GRCh38]
Chr7:83590852 [GRCh37]
Chr7:7q21.11
benign
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 7q21.11(chr7:84371743-84509195)x1 copy number loss See cases [RCV000137032] Chr7:84371743..84509195 [GRCh38]
Chr7:84001059..84138511 [GRCh37]
Chr7:83838995..83976447 [NCBI36]
Chr7:7q21.11
benign
GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1 copy number loss See cases [RCV000143271] Chr7:84002634..95228883 [GRCh38]
Chr7:83631950..94858195 [GRCh37]
Chr7:83469886..94696131 [NCBI36]
Chr7:7q21.11-21.3
pathogenic
NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile) single nucleotide variant Delayed puberty [RCV000156947]|not provided [RCV000963216] Chr7:83961537 [GRCh38]
Chr7:83590853 [GRCh37]
Chr7:7q21.11
likely pathogenic|benign|likely benign
Single allele deletion Seizure [RCV000240885] Chr7:81587754..84304468 [GRCh38]
Chr7:81217070..83933784 [GRCh37]
Chr7:7q21.11
likely pathogenic
Single allele deletion Seizure [RCV000240951] Chr7:79708363..87161076 [GRCh38]
Chr7:79337679..86790392 [GRCh37]
Chr7:7q21.11-21.12
pathogenic|likely pathogenic
GRCh37/hg19 7q21.11(chr7:83817339-84709685)x3 copy number gain See cases [RCV000239802] Chr7:83817339..84709685 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:83426938-83806633)x3 copy number gain See cases [RCV000511308] Chr7:83426938..83806633 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.629C>G (p.Pro210Arg) single nucleotide variant not provided [RCV000520908] Chr7:84046362 [GRCh38]
Chr7:83675678 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.1654C>T (p.Arg552Cys) single nucleotide variant not provided [RCV000406010] Chr7:83977195 [GRCh38]
Chr7:83606511 [GRCh37]
Chr7:7q21.11
uncertain significance
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
NC_000007.14:g.(?_81485635)_(84094822_?)del deletion Schizophrenia [RCV000416754] Chr7:81485635..84094822 [GRCh38]
Chr7:81114951..83724138 [GRCh37]
Chr7:80952887..83562074 [NCBI36]
Chr7:7q21.11
likely pathogenic
NM_006080.3(SEMA3A):c.1531C>T (p.Gln511Ter) single nucleotide variant not provided [RCV000479871] Chr7:83981442 [GRCh38]
Chr7:83610758 [GRCh37]
Chr7:7q21.11
likely 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
GRCh37/hg19 7q21.11(chr7:80348675-83666606)x1 copy number loss See cases [RCV000511923] Chr7:80348675..83666606 [GRCh37]
Chr7:7q21.11
likely pathogenic
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3
uncertain significance
GRCh37/hg19 7q21.11(chr7:83506642-83638818)x1 copy number loss not provided [RCV000682795] Chr7:83506642..83638818 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:83635356-84075096)x1 copy number loss not provided [RCV000682845] Chr7:83635356..84075096 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:82922936-83829252)x3 copy number gain not provided [RCV000682873] Chr7:82922936..83829252 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11-21.12(chr7:83506642-86647926)x1 copy number loss not provided [RCV000682902] Chr7:83506642..86647926 [GRCh37]
Chr7:7q21.11-21.12
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
NM_006080.3(SEMA3A):c.1653-6C>T single nucleotide variant not provided [RCV001658245]|not specified [RCV001529231] Chr7:83977202 [GRCh38]
Chr7:83606518 [GRCh37]
Chr7:7q21.11
benign
NC_000007.14:g.(?_81478831)_(84097791_?)del deletion Schizophrenia [RCV000754335] Chr7:81478831..84097791 [GRCh38]
Chr7:7q21.11
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q21.11(chr7:83589551-83824208)x3 copy number gain not provided [RCV000746855] Chr7:83589551..83824208 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:83599335-83702476)x3 copy number gain not provided [RCV000746856] Chr7:83599335..83702476 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:83599335-83841443)x3 copy number gain not provided [RCV000746857] Chr7:83599335..83841443 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:83610726-83638702)x3 copy number gain not provided [RCV000746858] Chr7:83610726..83638702 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:83610726-83640394)x3 copy number gain not provided [RCV000746859] Chr7:83610726..83640394 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:83631547-83638702)x3 copy number gain not provided [RCV000746860] Chr7:83631547..83638702 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1453-9del deletion not provided [RCV001611213] Chr7:83985486 [GRCh38]
Chr7:83614802 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1361-289A>T single nucleotide variant not provided [RCV001681809] Chr7:84002335 [GRCh38]
Chr7:83631651 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.334-169G>A single nucleotide variant not provided [RCV001577566] Chr7:84110758 [GRCh38]
Chr7:83740074 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.786C>T (p.His262=) single nucleotide variant not provided [RCV000900335] Chr7:84014233 [GRCh38]
Chr7:83643549 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.135G>C (p.Val45=) single nucleotide variant not provided [RCV000901027] Chr7:84134929 [GRCh38]
Chr7:83764245 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_006080.3(SEMA3A):c.334-4A>G single nucleotide variant not provided [RCV000905170] Chr7:84110593 [GRCh38]
Chr7:83739909 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.57A>C (p.Arg19Ser) single nucleotide variant not provided [RCV000901943] Chr7:84194530 [GRCh38]
Chr7:83823846 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1953G>A (p.Ala651=) single nucleotide variant not provided [RCV000892912]|not specified [RCV001818678] Chr7:83961734 [GRCh38]
Chr7:83591050 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1361-4A>G single nucleotide variant not provided [RCV000922203] Chr7:84002050 [GRCh38]
Chr7:83631366 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.2238A>G (p.Lys746=) single nucleotide variant not provided [RCV000925464] Chr7:83961449 [GRCh38]
Chr7:83590765 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1382T>C (p.Val461Ala) single nucleotide variant not provided [RCV000922647] Chr7:84002025 [GRCh38]
Chr7:83631341 [GRCh37]
Chr7:7q21.11
likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 7q21.11(chr7:83664877-83740076) copy number loss Hypogonadotropic hypogonadism 16 with or without anosmia [RCV000767641] Chr7:83664877..83740076 [GRCh37]
Chr7:7q21.11
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_006080.3(SEMA3A):c.2160G>A (p.Glu720=) single nucleotide variant not provided [RCV000920414] Chr7:83961527 [GRCh38]
Chr7:83590843 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.87G>A (p.Val29=) single nucleotide variant not provided [RCV000883845] Chr7:84194500 [GRCh38]
Chr7:83823816 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_006080.3(SEMA3A):c.1000A>G (p.Ile334Val) single nucleotide variant not provided [RCV000947038] Chr7:84007493 [GRCh38]
Chr7:83636809 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.138C>A (p.Ile46=) single nucleotide variant not provided [RCV000931262] Chr7:84134926 [GRCh38]
Chr7:83764242 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1074C>T (p.His358=) single nucleotide variant not provided [RCV000943037] Chr7:84007419 [GRCh38]
Chr7:83636735 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.552A>G (p.Gly184=) single nucleotide variant not provided [RCV000943166] Chr7:84046439 [GRCh38]
Chr7:83675755 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1812G>A (p.Ala604=) single nucleotide variant not provided [RCV000904882] Chr7:83963253 [GRCh38]
Chr7:83592569 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.201T>C (p.Ser67=) single nucleotide variant not provided [RCV000899513] Chr7:84134863 [GRCh38]
Chr7:83764179 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.240C>T (p.Phe80=) single nucleotide variant not provided [RCV000907785] Chr7:84134824 [GRCh38]
Chr7:83764140 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.999C>T (p.Asn333=) single nucleotide variant not provided [RCV000915593] Chr7:84007494 [GRCh38]
Chr7:83636810 [GRCh37]
Chr7:7q21.11
likely benign
GRCh37/hg19 7q21.11(chr7:83821768-83892545)x1 copy number loss not provided [RCV000849202] Chr7:83821768..83892545 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.1458G>A (p.Pro486=) single nucleotide variant not provided [RCV000958602] Chr7:83985472 [GRCh38]
Chr7:83614788 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:83593776-83646626)x3 copy number gain not provided [RCV000849593] Chr7:83593776..83646626 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:83593776-83646626)x3 copy number gain not provided [RCV000849594] Chr7:83593776..83646626 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:82243367-83600926)x1 copy number loss not provided [RCV001005980] Chr7:82243367..83600926 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:82653019-83691163)x3 copy number gain not provided [RCV001005982] Chr7:82653019..83691163 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.810+205G>A single nucleotide variant not provided [RCV001545079] Chr7:84014004 [GRCh38]
Chr7:83643320 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.112+53del deletion not provided [RCV001671141] Chr7:84194422 [GRCh38]
Chr7:83823738 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1361-226A>G single nucleotide variant not provided [RCV001598369] Chr7:84002272 [GRCh38]
Chr7:83631588 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1361-185C>T single nucleotide variant not provided [RCV001673947] Chr7:84002231 [GRCh38]
Chr7:83631547 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.333+92G>T single nucleotide variant not provided [RCV001576233] Chr7:84129031 [GRCh38]
Chr7:83758347 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.995+276T>G single nucleotide variant not provided [RCV001598813] Chr7:84010746 [GRCh38]
Chr7:83640062 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.453+148T>A single nucleotide variant not provided [RCV001717524] Chr7:84110322 [GRCh38]
Chr7:83739638 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.453+24A>G single nucleotide variant not provided [RCV001717613] Chr7:84110446 [GRCh38]
Chr7:83739762 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1452+276_1452+277insTATG insertion not provided [RCV001681542] Chr7:84001678..84001679 [GRCh38]
Chr7:83630994..83630995 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1361-155A>G single nucleotide variant not provided [RCV001621385] Chr7:84002201 [GRCh38]
Chr7:83631517 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.-46C>T single nucleotide variant not provided [RCV001577390] Chr7:84194632 [GRCh38]
Chr7:83823948 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.113-234G>A single nucleotide variant not provided [RCV001589448] Chr7:84135185 [GRCh38]
Chr7:83764501 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1652+97T>C single nucleotide variant not provided [RCV001620356] Chr7:83981224 [GRCh38]
Chr7:83610540 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1494+162T>C single nucleotide variant not provided [RCV001558693] Chr7:83985274 [GRCh38]
Chr7:83614590 [GRCh37]
Chr7:7q21.11
likely benign
Single allele single nucleotide variant not provided [RCV001715257] Chr7:84195208 [GRCh38]
Chr7:83824524 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.271-190G>A single nucleotide variant not provided [RCV001618835] Chr7:84129375 [GRCh38]
Chr7:83758691 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.113-42G>C single nucleotide variant not provided [RCV001670400] Chr7:84134993 [GRCh38]
Chr7:83764309 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.668-311C>T single nucleotide variant not provided [RCV001657143] Chr7:84014662 [GRCh38]
Chr7:83643978 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.810+283T>C single nucleotide variant not provided [RCV001685781] Chr7:84013926 [GRCh38]
Chr7:83643242 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1596C>T (p.Asp532=) single nucleotide variant not provided [RCV000885204] Chr7:83981377 [GRCh38]
Chr7:83610693 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1371C>T (p.Thr457=) single nucleotide variant not provided [RCV000933566] Chr7:84002036 [GRCh38]
Chr7:83631352 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.645G>A (p.Gln215=) single nucleotide variant not provided [RCV000886593] Chr7:84046346 [GRCh38]
Chr7:83675662 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1644T>A (p.Thr548=) single nucleotide variant not provided [RCV000909128] Chr7:83981329 [GRCh38]
Chr7:83610645 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.2046T>C (p.Asp682=) single nucleotide variant not provided [RCV000915311] Chr7:83961641 [GRCh38]
Chr7:83590957 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.331C>T (p.Leu111=) single nucleotide variant not provided [RCV000932832] Chr7:84129125 [GRCh38]
Chr7:83758441 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1026G>A (p.Met342Ile) single nucleotide variant not provided [RCV000884656] Chr7:84007467 [GRCh38]
Chr7:83636783 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1923G>C (p.Gln641His) single nucleotide variant not provided [RCV000906583] Chr7:83961764 [GRCh38]
Chr7:83591080 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1776C>T (p.Ser592=) single nucleotide variant not provided [RCV000882729] Chr7:83963289 [GRCh38]
Chr7:83592605 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.668-20C>T single nucleotide variant not provided [RCV001713100]|not specified [RCV001529073] Chr7:84014371 [GRCh38]
Chr7:83643687 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.336A>G (p.Lys112=) single nucleotide variant not provided [RCV000956496] Chr7:84110587 [GRCh38]
Chr7:83739903 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.548-172_548-155dup duplication not provided [RCV001547785] Chr7:84046597..84046598 [GRCh38]
Chr7:83675913..83675914 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.995+288del deletion not provided [RCV001620104] Chr7:84010734 [GRCh38]
Chr7:83640050 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1860+30A>G single nucleotide variant not provided [RCV001718147] Chr7:83963175 [GRCh38]
Chr7:83592491 [GRCh37]
Chr7:7q21.11
benign
Single allele deletion not provided [RCV001595181] Chr7:84194797 [GRCh38]
Chr7:83824113 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1361-246A>G single nucleotide variant not provided [RCV001717158] Chr7:84002292 [GRCh38]
Chr7:83631608 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.453+204G>C single nucleotide variant not provided [RCV001638801] Chr7:84110266 [GRCh38]
Chr7:83739582 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.995+278_995+284del deletion not provided [RCV001716892] Chr7:84010738..84010744 [GRCh38]
Chr7:83640054..83640060 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.334-187A>C single nucleotide variant not provided [RCV001619200] Chr7:84110776 [GRCh38]
Chr7:83740092 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.113-166del deletion not provided [RCV001714202] Chr7:84135117 [GRCh38]
Chr7:83764433 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1494+32C>T single nucleotide variant not provided [RCV001597758] Chr7:83985404 [GRCh38]
Chr7:83614720 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.334-110A>G single nucleotide variant not provided [RCV001658558] Chr7:84110699 [GRCh38]
Chr7:83740015 [GRCh37]
Chr7:7q21.11
benign
Single allele single nucleotide variant not provided [RCV001698529] Chr7:84195126 [GRCh38]
Chr7:83824442 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1717+89TC[4] microsatellite not provided [RCV001676471] Chr7:83977037..83977038 [GRCh38]
Chr7:83606353..83606354 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.334-125G>A single nucleotide variant not provided [RCV001638260] Chr7:84110714 [GRCh38]
Chr7:83740030 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1563G>C (p.Gly521=) single nucleotide variant not provided [RCV001669904] Chr7:83981410 [GRCh38]
Chr7:83610726 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.112+63T>C single nucleotide variant not provided [RCV001599014] Chr7:84194412 [GRCh38]
Chr7:83823728 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1653-85A>T single nucleotide variant not provided [RCV001615022] Chr7:83977281 [GRCh38]
Chr7:83606597 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.995+178C>G single nucleotide variant not provided [RCV001714635] Chr7:84010844 [GRCh38]
Chr7:83640160 [GRCh37]
Chr7:7q21.11
benign
Single allele single nucleotide variant not provided [RCV001647935] Chr7:84195246 [GRCh38]
Chr7:83824562 [GRCh37]
Chr7:7q21.11
benign
Single allele single nucleotide variant not provided [RCV001616167] Chr7:84194892 [GRCh38]
Chr7:83824208 [GRCh37]
Chr7:7q21.11
benign
Single allele deletion not provided [RCV001714103] Chr7:84194797..84194799 [GRCh38]
Chr7:83824113..83824115 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1860+325del deletion not provided [RCV001583232] Chr7:83962880 [GRCh38]
Chr7:83592196 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1860+164C>T single nucleotide variant not provided [RCV001648285] Chr7:83963041 [GRCh38]
Chr7:83592357 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1361-52T>A single nucleotide variant not provided [RCV001612614] Chr7:84002098 [GRCh38]
Chr7:83631414 [GRCh37]
Chr7:7q21.11
benign
Single allele deletion not provided [RCV001546772] Chr7:84194861 [GRCh38]
Chr7:83824177 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1361-91_1361-88del deletion not provided [RCV001652179] Chr7:84002134..84002137 [GRCh38]
Chr7:83631450..83631453 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.547+167G>A single nucleotide variant not provided [RCV001539944] Chr7:84060298 [GRCh38]
Chr7:83689614 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1494+132A>C single nucleotide variant not provided [RCV001641754] Chr7:83985304 [GRCh38]
Chr7:83614620 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:83775974-84858778)x3 copy number gain not provided [RCV001258803] Chr7:83775974..84858778 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:83678951-83760987)x1 copy number loss not provided [RCV001258804] Chr7:83678951..83760987 [GRCh37]
Chr7:7q21.11
uncertain significance
Single allele microsatellite not provided [RCV001356752] Chr7:84195025..84195026 [GRCh38]
Chr7:83824341..83824342 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.2315G>A (p.Ter772=) single nucleotide variant Hypogonadotropic hypogonadism 16 with or without anosmia [RCV001332736] Chr7:83961372 [GRCh38]
Chr7:83590688 [GRCh37]
Chr7:7q21.11
pathogenic
Single allele microsatellite not provided [RCV001356958] Chr7:84195025..84195028 [GRCh38]
Chr7:83824341..83824344 [GRCh37]
Chr7:7q21.11
uncertain significance
Single allele deletion not provided [RCV001534283] Chr7:84194797..84194798 [GRCh38]
Chr7:83824113..83824114 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1361-28G>C single nucleotide variant not provided [RCV001541087] Chr7:84002074 [GRCh38]
Chr7:83631390 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1652+140G>T single nucleotide variant not provided [RCV001682297] Chr7:83981181 [GRCh38]
Chr7:83610497 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1140+46C>G single nucleotide variant not provided [RCV001716935] Chr7:84007307 [GRCh38]
Chr7:83636623 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.334-117dup duplication not provided [RCV001608872] Chr7:84110693..84110694 [GRCh38]
Chr7:83740009..83740010 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1718-230G>C single nucleotide variant not provided [RCV001716130] Chr7:83963577 [GRCh38]
Chr7:83592893 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.267A>G (p.Gln89=) single nucleotide variant not provided [RCV001717295] Chr7:84134797 [GRCh38]
Chr7:83764113 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1302T>C (p.Ile434=) single nucleotide variant not provided [RCV001713866] Chr7:84005397 [GRCh38]
Chr7:83634713 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.112+52C>G single nucleotide variant not provided [RCV001650528] Chr7:84194423 [GRCh38]
Chr7:83823739 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.454-248T>C single nucleotide variant not provided [RCV001592084] Chr7:84060806 [GRCh38]
Chr7:83690122 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1452+243T>C single nucleotide variant not provided [RCV001675198] Chr7:84001712 [GRCh38]
Chr7:83631028 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1457C>T (p.Pro486Leu) single nucleotide variant not provided [RCV001536966] Chr7:83985473 [GRCh38]
Chr7:83614789 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.1361-42G>T single nucleotide variant not provided [RCV001732306] Chr7:84002088 [GRCh38]
Chr7:83631404 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1141-10_1141-8dup duplication not provided [RCV001774675] Chr7:84005565..84005566 [GRCh38]
Chr7:83634881..83634882 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.1372G>A (p.Val458Ile) single nucleotide variant Hypogonadotropic hypogonadism 16 with or without anosmia [RCV001785417] Chr7:84002035 [GRCh38]
Chr7:83631351 [GRCh37]
Chr7:7q21.11
risk factor
NM_006080.3(SEMA3A):c.590G>A (p.Arg197Gln) single nucleotide variant Hypogonadotropic hypogonadism 16 with or without anosmia [RCV001785416] Chr7:84046401 [GRCh38]
Chr7:83675717 [GRCh37]
Chr7:7q21.11
risk factor
NM_006080.3(SEMA3A):c.1850G>A (p.Arg617Gln) single nucleotide variant Hypogonadotropic hypogonadism 16 with or without anosmia [RCV001785418] Chr7:83963215 [GRCh38]
Chr7:83592531 [GRCh37]
Chr7:7q21.11
risk factor
NM_006080.3(SEMA3A):c.1926G>T (p.Lys642Asn) single nucleotide variant not provided [RCV001773394] Chr7:83961761 [GRCh38]
Chr7:83591077 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.112+52_112+53dup duplication not provided [RCV001786309] Chr7:84194421..84194422 [GRCh38]
Chr7:83823737..83823738 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.1960C>T (p.His654Tyr) single nucleotide variant not provided [RCV001763636] Chr7:83961727 [GRCh38]
Chr7:83591043 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter) single nucleotide variant not provided [RCV001817901] Chr7:83977186 [GRCh38]
Chr7:83606502 [GRCh37]
Chr7:7q21.11
pathogenic
NM_006080.3(SEMA3A):c.1256G>A (p.Arg419His) single nucleotide variant not specified [RCV001822376] Chr7:84005443 [GRCh38]
Chr7:83634759 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:82958543-84062357)x3 copy number gain not provided [RCV001829125] Chr7:82958543..84062357 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089) copy number loss not specified [RCV002053699] Chr7:77310644..84461089 [GRCh37]
Chr7:7q11.23-21.11
pathogenic
GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137) copy number gain not specified [RCV002053701] Chr7:77821356..93340137 [GRCh37]
Chr7:7q21.11-21.3
pathogenic
NM_006080.3(SEMA3A):c.366_367delinsTA (p.Lys122_Ala123delinsAsnThr) indel not provided [RCV001982503] Chr7:84110556..84110557 [GRCh38]
Chr7:83739872..83739873 [GRCh37]
Chr7:7q21.11
uncertain significance
NC_000007.13:g.(?_80276057)_(83739925_?)del deletion not provided [RCV001960659] Chr7:80276057..83739925 [GRCh37]
Chr7:7q21.11
pathogenic
NM_006080.3(SEMA3A):c.1910G>A (p.Arg637His) single nucleotide variant not provided [RCV001902858] Chr7:83961777 [GRCh38]
Chr7:83591093 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_006080.3(SEMA3A):c.926-13dup duplication not provided [RCV002071301] Chr7:84011103..84011104 [GRCh38]
Chr7:83640419..83640420 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.547+20_547+23del deletion not provided [RCV002078494] Chr7:84060442..84060445 [GRCh38]
Chr7:83689758..83689761 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1361-14A>G single nucleotide variant not provided [RCV002136870] Chr7:84002060 [GRCh38]
Chr7:83631376 [GRCh37]
Chr7:7q21.11
benign
NM_006080.3(SEMA3A):c.1302_1303inv (p.Val435Ile) inversion not provided [RCV002118914] Chr7:84005396..84005397 [GRCh38]
Chr7:83634712..83634713 [GRCh37]
Chr7:7q21.11
likely benign
NM_006080.3(SEMA3A):c.668-14T>A single nucleotide variant not provided [RCV001541095]|not specified [RCV001528331] Chr7:84014365 [GRCh38]
Chr7:83643681 [GRCh37]
Chr7:7q21.11
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10723 AgrOrtholog
COSMIC SEMA3A COSMIC
Ensembl Genes ENSG00000075213 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265362 ENTREZGENE
  ENSP00000265362.3 UniProtKB/Swiss-Prot
  ENSP00000391900.1 UniProtKB/TrEMBL
  ENSP00000402093.1 UniProtKB/TrEMBL
  ENSP00000404800.1 UniProtKB/TrEMBL
  ENSP00000415260.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265362 ENTREZGENE
  ENST00000265362.9 UniProtKB/Swiss-Prot
  ENST00000420047.1 UniProtKB/TrEMBL
  ENST00000424555.5 UniProtKB/TrEMBL
  ENST00000436949.5 UniProtKB/Swiss-Prot
  ENST00000448879.5 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000075213 GTEx
HGNC ID HGNC:10723 ENTREZGENE
Human Proteome Map SEMA3A 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, UniProtKB/TrEMBL
  IL-1RAcP-like_ig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema3A_sema UniProtKB/Swiss-Prot
  Semap_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semap_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semaphorin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10371 UniProtKB/Swiss-Prot
NCBI Gene 10371 ENTREZGENE
OMIM 603961 OMIM
  614897 OMIM
PANTHER PTHR11036 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ig_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35645 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF101912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DG50_HUMAN UniProtKB/TrEMBL
  C9J9C4_HUMAN UniProtKB/TrEMBL
  C9JD25_HUMAN UniProtKB/TrEMBL
  Q14563 ENTREZGENE
  Q75MQ2_HUMAN UniProtKB/TrEMBL
  Q86UJ2_HUMAN UniProtKB/TrEMBL
  SEM3A_HUMAN UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 SEMA3A  semaphorin 3A    sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A  Symbol and/or name change 5135510 APPROVED
2011-08-16 SEMA3A  sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A  SEMA3A  sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A  Symbol and/or name change 5135510 APPROVED