SEMA5A (semaphorin 5A) - Rat Genome Database

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Gene: SEMA5A (semaphorin 5A) Homo sapiens
Analyze
Symbol: SEMA5A
Name: semaphorin 5A
RGD ID: 1318544
HGNC Page HGNC:10736
Description: Predicted to enable axon guidance receptor activity; proteoglycan binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including axon development; regulation of chemotaxis; and regulation of signal transduction. Predicted to act upstream of or within branching involved in blood vessel morphogenesis; detection of light stimulus involved in visual perception; and neuron projection morphogenesis. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ12815; sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A; sema F; SEMAF; semaphorin F; semaphorin-5A; semaphorin-F; semF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100422730  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3859,035,033 - 9,546,075 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl59,035,033 - 9,546,075 (-)EnsemblGRCh38hg38GRCh38
GRCh3759,035,145 - 9,546,187 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3659,088,138 - 9,599,233 (-)NCBINCBI36Build 36hg18NCBI36
Build 3459,091,858 - 9,599,158NCBI
Celera59,075,672 - 9,586,506 (-)NCBICelera
Cytogenetic Map5p15.31NCBI
HuRef59,020,618 - 9,529,962 (-)NCBIHuRef
CHM1_159,034,070 - 9,546,215 (-)NCBICHM1_1
T2T-CHM13v2.058,974,898 - 9,485,916 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetohydrazide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
cadmium atom  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
DDT  (ISO)
dibutyl phthalate  (ISO)
diethyl malate  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
glycidol  (ISO)
glyphosate  (EXP)
hypochlorous acid  (ISO)
inulin  (ISO)
isoprenaline  (ISO)
L-methionine  (ISO)
Licochalcone B  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
maneb  (ISO)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
N,N-diethyl-m-toluamide  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
ozone  (EXP)
panobinostat  (EXP)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
pirinixic acid  (EXP)
potassium dichromate  (ISO)
SB 431542  (EXP)
selenomethionine  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
toluene  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval. Simmons AD, etal., Biochem Biophys Res Commun. 1998 Jan 26;242(3):685-91.
Additional References at PubMed
PMID:8817451   PMID:8889548   PMID:9049630   PMID:12477932   PMID:14702039   PMID:15218527   PMID:15302935   PMID:15372022   PMID:15489334   PMID:16252231   PMID:16344560   PMID:16481103  
PMID:17028446   PMID:18029348   PMID:18519826   PMID:18628988   PMID:18950607   PMID:19329067   PMID:19812673   PMID:19913121   PMID:19957501   PMID:20073063   PMID:20379614   PMID:20628086  
PMID:20696765   PMID:20802022   PMID:21706053   PMID:21873635   PMID:22229870   PMID:22782341   PMID:22821546   PMID:23251661   PMID:23376485   PMID:23533145   PMID:24291503   PMID:24706317  
PMID:24722188   PMID:26395558   PMID:26601658   PMID:28063160   PMID:30454024   PMID:30577767   PMID:30592759   PMID:31116162   PMID:31544715   PMID:31597158   PMID:31789397   PMID:33176280  
PMID:33616619   PMID:33771090   PMID:33801296   PMID:35835748   PMID:36741230   PMID:37164546  


Genomics

Comparative Map Data
SEMA5A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3859,035,033 - 9,546,075 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl59,035,033 - 9,546,075 (-)EnsemblGRCh38hg38GRCh38
GRCh3759,035,145 - 9,546,187 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3659,088,138 - 9,599,233 (-)NCBINCBI36Build 36hg18NCBI36
Build 3459,091,858 - 9,599,158NCBI
Celera59,075,672 - 9,586,506 (-)NCBICelera
Cytogenetic Map5p15.31NCBI
HuRef59,020,618 - 9,529,962 (-)NCBIHuRef
CHM1_159,034,070 - 9,546,215 (-)NCBICHM1_1
T2T-CHM13v2.058,974,898 - 9,485,916 (-)NCBIT2T-CHM13v2.0
Sema5a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391532,244,959 - 32,696,487 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1532,244,956 - 32,696,487 (+)EnsemblGRCm39 Ensembl
GRCm381532,244,813 - 32,696,341 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1532,244,810 - 32,696,341 (+)EnsemblGRCm38mm10GRCm38
MGSCv371532,174,568 - 32,626,096 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361532,361,948 - 32,640,922 (+)NCBIMGSCv36mm8
Celera1532,949,262 - 33,396,657 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1513.02NCBI
Sema5a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8285,020,724 - 85,451,938 (+)NCBIGRCr8
mRatBN7.2283,309,843 - 83,741,084 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl283,309,843 - 83,741,084 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx290,354,073 - 90,791,652 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0288,475,679 - 88,913,259 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0283,531,943 - 83,969,519 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0285,377,318 - 85,808,970 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl285,377,318 - 85,808,970 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02105,049,343 - 105,480,370 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4284,725,092 - 85,158,599 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1284,835,136 - 85,097,066 (+)NCBI
Celera278,800,990 - 79,231,054 (+)NCBICelera
Cytogenetic Map2q23NCBI
Sema5a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555046,350,866 - 6,762,104 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555046,343,747 - 6,691,945 (-)NCBIChiLan1.0ChiLan1.0
SEMA5A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v249,272,092 - 9,780,658 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan157,425,701 - 7,935,102 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v059,349,473 - 9,852,183 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.159,168,549 - 9,672,779 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl59,168,549 - 9,564,356 (-)Ensemblpanpan1.1panPan2
SEMA5A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1344,612,202 - 5,089,071 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl344,612,142 - 5,082,280 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha349,122,860 - 9,593,613 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0344,522,038 - 4,992,481 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl344,521,503 - 4,998,657 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1344,573,215 - 5,048,444 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0344,553,933 - 5,029,831 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0344,776,835 - 5,250,400 (+)NCBIUU_Cfam_GSD_1.0
Sema5a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213237,599,219 - 238,050,371 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366431,355,070 - 1,637,151 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366431,352,401 - 1,803,553 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEMA5A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1672,756,383 - 73,328,981 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11672,796,453 - 73,335,974 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21678,742,131 - 79,220,468 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SEMA5A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.148,598,680 - 9,095,346 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl48,600,959 - 9,095,423 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606419,470,071 - 19,975,962 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sema5a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247516,436,854 - 6,738,216 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247516,429,814 - 6,913,673 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SEMA5A
155 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003966.2(SEMA5A):c.2894-2780G>C single nucleotide variant Lung cancer [RCV000096303] Chr5:9047364 [GRCh38]
Chr5:9047476 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+2672G>C single nucleotide variant Lung cancer [RCV000096304] Chr5:9047738 [GRCh38]
Chr5:9047850 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+2601G>C single nucleotide variant Lung cancer [RCV000096305] Chr5:9047809 [GRCh38]
Chr5:9047921 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+2318G>A single nucleotide variant Lung cancer [RCV000096306] Chr5:9048092 [GRCh38]
Chr5:9048204 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+2286G>T single nucleotide variant Lung cancer [RCV000096307] Chr5:9048124 [GRCh38]
Chr5:9048236 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+1981G>T single nucleotide variant Lung cancer [RCV000096308] Chr5:9048429 [GRCh38]
Chr5:9048541 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+1971G>C single nucleotide variant Lung cancer [RCV000096309] Chr5:9048439 [GRCh38]
Chr5:9048551 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+1694G>A single nucleotide variant Lung cancer [RCV000096310] Chr5:9048716 [GRCh38]
Chr5:9048828 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+1653G>A single nucleotide variant Lung cancer [RCV000096311] Chr5:9048757 [GRCh38]
Chr5:9048869 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+1648G>A single nucleotide variant Lung cancer [RCV000096312] Chr5:9048762 [GRCh38]
Chr5:9048874 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+1182G>A single nucleotide variant Lung cancer [RCV000096313] Chr5:9049228 [GRCh38]
Chr5:9049340 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.2893+692G>A single nucleotide variant Lung cancer [RCV000096314] Chr5:9049718 [GRCh38]
Chr5:9049830 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.1600-1028C>T single nucleotide variant Lung cancer [RCV000096316] Chr5:9123865 [GRCh38]
Chr5:9123977 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.1068+2820A>T single nucleotide variant Lung cancer [RCV000096321] Chr5:9194348 [GRCh38]
Chr5:9194460 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.271-9252A>T single nucleotide variant Lung cancer [RCV000096324] Chr5:9247142 [GRCh38]
Chr5:9247254 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.-77-2436C>T single nucleotide variant Lung cancer [RCV000096327] Chr5:9382459 [GRCh38]
Chr5:9382571 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.-175+25020C>T single nucleotide variant Lung cancer [RCV000096333] Chr5:9520564 [GRCh38]
Chr5:9520676 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.2(SEMA5A):c.-175+23659G>C single nucleotide variant Lung cancer [RCV000096334] Chr5:9521925 [GRCh38]
Chr5:9522037 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000050295] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p15.31(chr5:9146394-9413261)x3 copy number gain See cases [RCV000051662] Chr5:9146394..9413261 [GRCh38]
Chr5:9146506..9413373 [GRCh37]
Chr5:9199506..9466373 [NCBI36]
Chr5:5p15.31		 uncertain significance
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 copy number loss See cases [RCV000053399] Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 copy number loss See cases [RCV000053416] Chr5:22149..10044087 [GRCh38]
Chr5:22149..10044199 [GRCh37]
Chr5:75149..10097199 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1 copy number loss See cases [RCV000053446] Chr5:2180761..17602433 [GRCh38]
Chr5:2180875..17602542 [GRCh37]
Chr5:2233875..17645646 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
NM_003966.3(SEMA5A):c.2928G>C (p.Leu976=) single nucleotide variant not provided [RCV000122513] Chr5:9044550 [GRCh38]
Chr5:9044662 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.31(chr5:7952706-9108420)x1 copy number loss Anophthalmia [RCV001004818] Chr5:7952706..9108420 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 copy number loss See cases [RCV000133796] Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.31(chr5:9143642-9402758)x3 copy number gain See cases [RCV000134911] Chr5:9143642..9402758 [GRCh38]
Chr5:9143754..9402870 [GRCh37]
Chr5:9196754..9455870 [NCBI36]
Chr5:5p15.31		 uncertain significance
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 copy number gain See cases [RCV000136943] Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic|uncertain significance
GRCh38/hg38 5p15.31-15.2(chr5:8824306-14246099)x1 copy number loss See cases [RCV000137141] Chr5:8824306..14246099 [GRCh38]
Chr5:8824418..14246208 [GRCh37]
Chr5:8877418..14299208 [NCBI36]
Chr5:5p15.31-15.2		 pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.31-15.2(chr5:9491619-10149143)x3 copy number gain See cases [RCV000137934] Chr5:9491619..10149143 [GRCh38]
Chr5:9491731..10149255 [GRCh37]
Chr5:9544731..10202255 [NCBI36]
Chr5:5p15.31-15.2		 likely benign
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 copy number loss See cases [RCV000137884] Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 copy number loss See cases [RCV000137915] Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1		 likely benign
GRCh38/hg38 5p15.31-15.2(chr5:7670933-13623997)x1 copy number loss See cases [RCV000139904] Chr5:7670933..13623997 [GRCh38]
Chr5:7671046..13624106 [GRCh37]
Chr5:7724046..13677106 [NCBI36]
Chr5:5p15.31-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1 copy number loss See cases [RCV000141795] Chr5:4932707..18465361 [GRCh38]
Chr5:4932820..18465470 [GRCh37]
Chr5:4985820..18501227 [NCBI36]
Chr5:5p15.32-14.3		 pathogenic
GRCh38/hg38 5p15.31(chr5:9224116-9752796)x3 copy number gain See cases [RCV000142283] Chr5:9224116..9752796 [GRCh38]
Chr5:9224228..9752908 [GRCh37]
Chr5:9277228..9805908 [NCBI36]
Chr5:5p15.31		 likely benign|uncertain significance
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 copy number loss See cases [RCV000142183] Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000148250] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
Single allele deletion Charcot-Marie-Tooth disease [RCV000170336] Chr5:9129755..9257708 [GRCh37]
Chr5:5p15.31		 pathogenic|uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 copy number loss See cases [RCV000240157] Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.31-15.2(chr5:9529809-9990381)x3 copy number gain Premature ovarian failure [RCV000225228] Chr5:9529809..9990381 [GRCh37]
Chr5:5p15.31-15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 copy number loss See cases [RCV000240389] Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) copy number loss 5p partial monosomy syndrome [RCV002280774] Chr5:113576..12601027 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3 copy number gain See cases [RCV000449100] Chr5:3159498..30585683 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.31(chr5:9143754-9432570)x3 copy number gain See cases [RCV000446589] Chr5:9143754..9432570 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 copy number loss See cases [RCV000447483] Chr5:22149..9958240 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 copy number gain See cases [RCV000447632] Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.31-13.3(chr5:7806183-31019599)x1 copy number loss See cases [RCV000445859] Chr5:7806183..31019599 [GRCh37]
Chr5:5p15.31-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1 copy number loss See cases [RCV000448421] Chr5:9120813..24274030 [GRCh37]
Chr5:5p15.31-14.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.31(chr5:8650478-9218837)x3 copy number gain See cases [RCV000512093] Chr5:8650478..9218837 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 copy number loss See cases [RCV000511494] Chr5:113576..10163809 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 copy number loss See cases [RCV000511513] Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_003966.3(SEMA5A):c.2240G>A (p.Arg747Lys) single nucleotide variant not provided [RCV000493005] Chr5:9066480 [GRCh38]
Chr5:9066592 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 copy number loss See cases [RCV000510912] Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_003966.3(SEMA5A):c.1222G>A (p.Asp408Asn) single nucleotide variant Inborn genetic diseases [RCV003275477] Chr5:9190318 [GRCh38]
Chr5:9190430 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.410C>T (p.Thr137Met) single nucleotide variant Inborn genetic diseases [RCV003248480] Chr5:9226891 [GRCh38]
Chr5:9227003 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 copy number loss not provided [RCV000682514] Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1 copy number loss not provided [RCV000682520] Chr5:5830053..19490899 [GRCh37]
Chr5:5p15.32-14.3		 pathogenic
GRCh37/hg19 5p15.32-15.2(chr5:5884444-14122539)x3 copy number gain not provided [RCV000682521] Chr5:5884444..14122539 [GRCh37]
Chr5:5p15.32-15.2		 pathogenic
GRCh37/hg19 5p15.31(chr5:7831677-9214028)x3 copy number gain not provided [RCV000682523] Chr5:7831677..9214028 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.31(chr5:8174188-9078628)x3 copy number gain not provided [RCV000744403] Chr5:8174188..9078628 [GRCh37]
Chr5:5p15.31		 benign
GRCh37/hg19 5p15.31(chr5:9522303-9629813)x3 copy number gain not provided [RCV000744406] Chr5:9522303..9629813 [GRCh37]
Chr5:5p15.31		 benign
GRCh37/hg19 5p15.31(chr5:9545752-9546201)x1 copy number loss not provided [RCV000744407] Chr5:9545752..9546201 [GRCh37]
Chr5:5p15.31		 benign
GRCh37/hg19 5p15.31(chr5:9545752-9546451)x1 copy number loss not provided [RCV000744408] Chr5:9545752..9546451 [GRCh37]
Chr5:5p15.31		 benign
GRCh37/hg19 5p15.31(chr5:9545752-9546451)x3 copy number gain not provided [RCV000744409] Chr5:9545752..9546451 [GRCh37]
Chr5:5p15.31		 benign
GRCh37/hg19 5p15.31(chr5:9545752-9547021)x1 copy number loss not provided [RCV000744410] Chr5:9545752..9547021 [GRCh37]
Chr5:5p15.31		 benign
GRCh37/hg19 5p15.31(chr5:9545752-9547129)x1 copy number loss not provided [RCV000744411] Chr5:9545752..9547129 [GRCh37]
Chr5:5p15.31		 benign
GRCh37/hg19 5p15.31(chr5:9545901-9546237)x1 copy number loss not provided [RCV000744412] Chr5:9545901..9546237 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.711A>T (p.Ala237=) single nucleotide variant not provided [RCV000979195] Chr5:9202176 [GRCh38]
Chr5:9202288 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.768C>T (p.Asn256=) single nucleotide variant not provided [RCV000918747] Chr5:9202119 [GRCh38]
Chr5:9202231 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2376G>A (p.Ser792=) single nucleotide variant not provided [RCV000963439] Chr5:9063029 [GRCh38]
Chr5:9063141 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.1029G>A (p.Ser343=) single nucleotide variant not provided [RCV000891866] Chr5:9197207 [GRCh38]
Chr5:9197319 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.741C>A (p.Phe247Leu) single nucleotide variant Intellectual disability [RCV000760211] Chr5:9202146 [GRCh38]
Chr5:9202258 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.924C>T (p.Thr308=) single nucleotide variant not provided [RCV000883176] Chr5:9201963 [GRCh38]
Chr5:9202075 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.177G>T (p.Ser59=) single nucleotide variant not provided [RCV000904974] Chr5:9337760 [GRCh38]
Chr5:9337872 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.411G>A (p.Thr137=) single nucleotide variant not provided [RCV000885151] Chr5:9226890 [GRCh38]
Chr5:9227002 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.2845+8C>G single nucleotide variant not provided [RCV000946834] Chr5:9051865 [GRCh38]
Chr5:9051977 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.961G>A (p.Val321Ile) single nucleotide variant SEMA5A-related condition [RCV003933119]|not provided [RCV000923184] Chr5:9197275 [GRCh38]
Chr5:9197387 [GRCh37]
Chr5:5p15.31		 benign|likely benign
NM_003966.3(SEMA5A):c.1887C>T (p.His629=) single nucleotide variant not provided [RCV000904308] Chr5:9119036 [GRCh38]
Chr5:9119148 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2689+6C>T single nucleotide variant not provided [RCV000903516] Chr5:9054081 [GRCh38]
Chr5:9054193 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.621G>A (p.Ala207=) single nucleotide variant not provided [RCV000882611] Chr5:9224699 [GRCh38]
Chr5:9224811 [GRCh37]
Chr5:5p15.31		 benign|likely benign
NM_003966.3(SEMA5A):c.177G>A (p.Ser59=) single nucleotide variant not provided [RCV000901888] Chr5:9337760 [GRCh38]
Chr5:9337872 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.1593G>A (p.Ala531=) single nucleotide variant not provided [RCV000892387] Chr5:9136510 [GRCh38]
Chr5:9136622 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.537C>A (p.Leu179=) single nucleotide variant not provided [RCV000921477] Chr5:9224783 [GRCh38]
Chr5:9224895 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.80C>G (p.Thr27Arg) single nucleotide variant not provided [RCV000924313] Chr5:9379867 [GRCh38]
Chr5:9379979 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.878G>A (p.Ser293Asn) single nucleotide variant not provided [RCV000902328] Chr5:9202009 [GRCh38]
Chr5:9202121 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.1568C>T (p.Thr523Met) single nucleotide variant Inborn genetic diseases [RCV003246401] Chr5:9136535 [GRCh38]
Chr5:9136647 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_003966.3(SEMA5A):c.2619G>A (p.Pro873=) single nucleotide variant not provided [RCV000897264] Chr5:9054157 [GRCh38]
Chr5:9054269 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.462G>A (p.Gln154=) single nucleotide variant not provided [RCV000937945] Chr5:9224858 [GRCh38]
Chr5:9224970 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2466T>C (p.Pro822=) single nucleotide variant not provided [RCV000914720] Chr5:9062939 [GRCh38]
Chr5:9063051 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.3106-8T>C single nucleotide variant not provided [RCV000920452] Chr5:9043024 [GRCh38]
Chr5:9043136 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.606T>A (p.Pro202=) single nucleotide variant not provided [RCV000963321] Chr5:9224714 [GRCh38]
Chr5:9224826 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.1431G>A (p.Glu477=) single nucleotide variant not provided [RCV000922909] Chr5:9154538 [GRCh38]
Chr5:9154650 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.2272G>T (p.Asp758Tyr) single nucleotide variant not provided [RCV000974196] Chr5:9066448 [GRCh38]
Chr5:9066560 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2575G>A (p.Gly859Ser) single nucleotide variant SEMA5A-related condition [RCV003968040]|not provided [RCV000885599] Chr5:9054201 [GRCh38]
Chr5:9054313 [GRCh37]
Chr5:5p15.31		 benign|likely benign
NM_003966.3(SEMA5A):c.2845+10G>A single nucleotide variant not provided [RCV000932438] Chr5:9051863 [GRCh38]
Chr5:9051975 [GRCh37]
Chr5:5p15.31		 likely benign
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) copy number loss 5p partial monosomy syndrome [RCV000767710] Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1 copy number loss not provided [RCV001005649] Chr5:1322680..10762544 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
NM_003966.3(SEMA5A):c.933-9C>T single nucleotide variant SEMA5A-related condition [RCV003950796]|not provided [RCV000914070] Chr5:9197312 [GRCh38]
Chr5:9197424 [GRCh37]
Chr5:5p15.31		 likely benign
GRCh37/hg19 5p15.31-15.2(chr5:9182813-9843934)x3 copy number gain not provided [RCV000845879] Chr5:9182813..9843934 [GRCh37]
Chr5:5p15.31-15.2		 uncertain significance
GRCh37/hg19 5p15.31-15.2(chr5:9182814-9843934)x3 copy number gain not provided [RCV000848331] Chr5:9182814..9843934 [GRCh37]
Chr5:5p15.31-15.2		 uncertain significance
GRCh37/hg19 5p15.31-15.2(chr5:9182716-9843934)x3 copy number gain not provided [RCV000847871] Chr5:9182716..9843934 [GRCh37]
Chr5:5p15.31-15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
NM_003966.3(SEMA5A):c.1767C>T (p.Ile589=) single nucleotide variant SEMA5A-related condition [RCV003978027]|not provided [RCV000919852] Chr5:9122670 [GRCh38]
Chr5:9122782 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.2373G>A (p.Thr791=) single nucleotide variant not provided [RCV000962119] Chr5:9063032 [GRCh38]
Chr5:9063144 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.531G>A (p.Gly177=) single nucleotide variant not provided [RCV000916274] Chr5:9224789 [GRCh38]
Chr5:9224901 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2676G>A (p.Thr892=) single nucleotide variant not provided [RCV000918304] Chr5:9054100 [GRCh38]
Chr5:9054212 [GRCh37]
Chr5:5p15.31		 likely benign
GRCh37/hg19 5p15.31(chr5:7607935-9584194)x3 copy number gain not provided [RCV000846801] Chr5:7607935..9584194 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 copy number loss not provided [RCV001005644] Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
NM_003966.3(SEMA5A):c.2167G>A (p.Gly723Ser) single nucleotide variant Inborn genetic diseases [RCV003274596] Chr5:9066553 [GRCh38]
Chr5:9066665 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1859G>A (p.Arg620His) single nucleotide variant Inborn genetic diseases [RCV003249580] Chr5:9119064 [GRCh38]
Chr5:9119176 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1422C>G (p.Gly474=) single nucleotide variant not provided [RCV001714230] Chr5:9154547 [GRCh38]
Chr5:9154659 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.1671C>A (p.Gly557=) single nucleotide variant SEMA5A-related condition [RCV003910858]|not provided [RCV000907665] Chr5:9122766 [GRCh38]
Chr5:9122878 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.2004A>G (p.Gln668=) single nucleotide variant not provided [RCV000885863] Chr5:9108209 [GRCh38]
Chr5:9108321 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.1971A>T (p.Thr657=) single nucleotide variant SEMA5A-related condition [RCV003902965]|not provided [RCV000917246] Chr5:9108242 [GRCh38]
Chr5:9108354 [GRCh37]
Chr5:5p15.31		 benign|likely benign
NM_003966.3(SEMA5A):c.717G>A (p.Glu239=) single nucleotide variant not provided [RCV000953529] Chr5:9202170 [GRCh38]
Chr5:9202282 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.1710C>T (p.Cys570=) single nucleotide variant not provided [RCV000910584] Chr5:9122727 [GRCh38]
Chr5:9122839 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.933-8G>A single nucleotide variant not provided [RCV000895052] Chr5:9197311 [GRCh38]
Chr5:9197423 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.1213G>A (p.Val405Met) single nucleotide variant not provided [RCV000978474] Chr5:9190327 [GRCh38]
Chr5:9190439 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.3090G>A (p.Ser1030=) single nucleotide variant SEMA5A-related condition [RCV003902869]|not provided [RCV000909870] Chr5:9044388 [GRCh38]
Chr5:9044500 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.369G>C (p.Val123=) single nucleotide variant not provided [RCV000923148] Chr5:9226932 [GRCh38]
Chr5:9227044 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.996T>C (p.Ser332=) single nucleotide variant not provided [RCV000908588] Chr5:9197240 [GRCh38]
Chr5:9197352 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2979C>T (p.Cys993=) single nucleotide variant not provided [RCV000925714] Chr5:9044499 [GRCh38]
Chr5:9044611 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2817G>A (p.Pro939=) single nucleotide variant SEMA5A-related condition [RCV003958278]|not provided [RCV000908617] Chr5:9051901 [GRCh38]
Chr5:9052013 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.1068+9C>T single nucleotide variant not provided [RCV000931182] Chr5:9197159 [GRCh38]
Chr5:9197271 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.1278C>T (p.Tyr426=) single nucleotide variant not provided [RCV000907343] Chr5:9154691 [GRCh38]
Chr5:9154803 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.3003C>T (p.His1001=) single nucleotide variant not provided [RCV000964467] Chr5:9044475 [GRCh38]
Chr5:9044587 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.2519-8C>T single nucleotide variant not provided [RCV000928782] Chr5:9054265 [GRCh38]
Chr5:9054377 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2340C>T (p.Ala780=) single nucleotide variant not provided [RCV000929924] Chr5:9063065 [GRCh38]
Chr5:9063177 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2703G>A (p.Glu901=) single nucleotide variant not provided [RCV000962102] Chr5:9052015 [GRCh38]
Chr5:9052127 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.3024C>T (p.Pro1008=) single nucleotide variant not provided [RCV000921889] Chr5:9044454 [GRCh38]
Chr5:9044566 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.855C>G (p.Pro285=) single nucleotide variant SEMA5A-related condition [RCV003953349]|not provided [RCV000975063] Chr5:9202032 [GRCh38]
Chr5:9202144 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.3129C>T (p.Ile1043=) single nucleotide variant not provided [RCV000888543] Chr5:9042993 [GRCh38]
Chr5:9043105 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.909C>T (p.Ile303=) single nucleotide variant not provided [RCV000888587] Chr5:9201978 [GRCh38]
Chr5:9202090 [GRCh37]
Chr5:5p15.31		 benign
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2		 pathogenic
NM_003966.3(SEMA5A):c.2214T>C (p.Ala738=) single nucleotide variant not provided [RCV000891199] Chr5:9066506 [GRCh38]
Chr5:9066618 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.1095C>T (p.Tyr365=) single nucleotide variant SEMA5A-related condition [RCV003960503]|not provided [RCV000933793] Chr5:9190445 [GRCh38]
Chr5:9190557 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2846-8T>C single nucleotide variant not provided [RCV000958087] Chr5:9050465 [GRCh38]
Chr5:9050577 [GRCh37]
Chr5:5p15.31		 benign|likely benign
NM_003966.3(SEMA5A):c.1107C>T (p.Thr369=) single nucleotide variant not provided [RCV000935077] Chr5:9190433 [GRCh38]
Chr5:9190545 [GRCh37]
Chr5:5p15.31		 benign
GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1 copy number loss not provided [RCV002472646] Chr5:8081005..22210970 [GRCh37]
Chr5:5p15.31-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 copy number loss not provided [RCV002472712] Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.31-15.2(chr5:7882916-9827532)x3 copy number gain See cases [RCV001007431] Chr5:7882916..9827532 [GRCh37]
Chr5:5p15.31-15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 copy number loss See cases [RCV002285039] Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.31-15.2(chr5:9074626-10073956)x3 copy number gain not provided [RCV001834539] Chr5:9074626..10073956 [GRCh37]
Chr5:5p15.31-15.2		 likely benign
GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 copy number loss not provided [RCV001827855] Chr5:113577..16952167 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
NM_003966.3(SEMA5A):c.-78+14596C>T single nucleotide variant SEMA5A-associated Neurodevelopmental syndrome [RCV002266636] Chr5:9423160 [GRCh38]
Chr5:9423272 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) copy number gain 5p partial monosomy syndrome [RCV002280773] Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_003966.3(SEMA5A):c.2819G>A (p.Cys940Tyr) single nucleotide variant Inborn genetic diseases [RCV003262731] Chr5:9051899 [GRCh38]
Chr5:9052011 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 copy number loss not provided [RCV002473919] Chr5:113577..17654787 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.31(chr5:8718856-9195571)x3 copy number gain not provided [RCV002473737] Chr5:8718856..9195571 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2869A>G (p.Ser957Gly) single nucleotide variant Inborn genetic diseases [RCV002992395] Chr5:9050434 [GRCh38]
Chr5:9050546 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2393G>A (p.Arg798His) single nucleotide variant Inborn genetic diseases [RCV002733517] Chr5:9063012 [GRCh38]
Chr5:9063124 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1592C>T (p.Ala531Val) single nucleotide variant Inborn genetic diseases [RCV002883828] Chr5:9136511 [GRCh38]
Chr5:9136623 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.821C>T (p.Ala274Val) single nucleotide variant Inborn genetic diseases [RCV002686927] Chr5:9202066 [GRCh38]
Chr5:9202178 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.379C>T (p.Arg127Trp) single nucleotide variant Inborn genetic diseases [RCV002688682]|not provided [RCV003435959] Chr5:9226922 [GRCh38]
Chr5:9227034 [GRCh37]
Chr5:5p15.31		 likely benign|uncertain significance
NM_003966.3(SEMA5A):c.2690A>G (p.Glu897Gly) single nucleotide variant Inborn genetic diseases [RCV002839969] Chr5:9052028 [GRCh38]
Chr5:9052140 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 copy number loss not provided [RCV002475666] Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 copy number loss not provided [RCV002475573] Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_003966.3(SEMA5A):c.1963T>G (p.Phe655Val) single nucleotide variant Inborn genetic diseases [RCV002782450] Chr5:9108250 [GRCh38]
Chr5:9108362 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2443G>A (p.Glu815Lys) single nucleotide variant Inborn genetic diseases [RCV002785134] Chr5:9062962 [GRCh38]
Chr5:9063074 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1108G>A (p.Glu370Lys) single nucleotide variant Inborn genetic diseases [RCV002739205] Chr5:9190432 [GRCh38]
Chr5:9190544 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1962G>A (p.Met654Ile) single nucleotide variant Inborn genetic diseases [RCV002758118] Chr5:9108251 [GRCh38]
Chr5:9108363 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.3157C>G (p.Pro1053Ala) single nucleotide variant Inborn genetic diseases [RCV002758379] Chr5:9042965 [GRCh38]
Chr5:9043077 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.512C>T (p.Ala171Val) single nucleotide variant Inborn genetic diseases [RCV002662005] Chr5:9224808 [GRCh38]
Chr5:9224920 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2575G>C (p.Gly859Arg) single nucleotide variant Inborn genetic diseases [RCV002891374] Chr5:9054201 [GRCh38]
Chr5:9054313 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1022C>T (p.Ser341Leu) single nucleotide variant Inborn genetic diseases [RCV002987249] Chr5:9197214 [GRCh38]
Chr5:9197326 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.58G>A (p.Ala20Thr) single nucleotide variant Inborn genetic diseases [RCV002709453] Chr5:9379889 [GRCh38]
Chr5:9380001 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.824G>T (p.Arg275Leu) single nucleotide variant Inborn genetic diseases [RCV002665126] Chr5:9202063 [GRCh38]
Chr5:9202175 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.356G>A (p.Arg119Gln) single nucleotide variant Inborn genetic diseases [RCV002984989] Chr5:9226945 [GRCh38]
Chr5:9227057 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2965G>A (p.Val989Ile) single nucleotide variant Inborn genetic diseases [RCV002987095] Chr5:9044513 [GRCh38]
Chr5:9044625 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2749G>A (p.Ala917Thr) single nucleotide variant Inborn genetic diseases [RCV002956889] Chr5:9051969 [GRCh38]
Chr5:9052081 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1964T>C (p.Phe655Ser) single nucleotide variant Inborn genetic diseases [RCV002802479] Chr5:9108249 [GRCh38]
Chr5:9108361 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1297C>T (p.Arg433Trp) single nucleotide variant Inborn genetic diseases [RCV002803443] Chr5:9154672 [GRCh38]
Chr5:9154784 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1346A>T (p.Glu449Val) single nucleotide variant Inborn genetic diseases [RCV002896130] Chr5:9154623 [GRCh38]
Chr5:9154735 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.598A>G (p.Ile200Val) single nucleotide variant Inborn genetic diseases [RCV002668489] Chr5:9224722 [GRCh38]
Chr5:9224834 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.80C>T (p.Thr27Met) single nucleotide variant Inborn genetic diseases [RCV002668490] Chr5:9379867 [GRCh38]
Chr5:9379979 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1702C>T (p.Arg568Cys) single nucleotide variant Inborn genetic diseases [RCV002674208] Chr5:9122735 [GRCh38]
Chr5:9122847 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1307T>A (p.Leu436Gln) single nucleotide variant Inborn genetic diseases [RCV002674558] Chr5:9154662 [GRCh38]
Chr5:9154774 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2944G>A (p.Gly982Ser) single nucleotide variant Inborn genetic diseases [RCV002814084] Chr5:9044534 [GRCh38]
Chr5:9044646 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.800C>A (p.Thr267Asn) single nucleotide variant Inborn genetic diseases [RCV003178384] Chr5:9202087 [GRCh38]
Chr5:9202199 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2758T>C (p.Cys920Arg) single nucleotide variant Inborn genetic diseases [RCV003217048] Chr5:9051960 [GRCh38]
Chr5:9052072 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2029C>T (p.Arg677Cys) single nucleotide variant Inborn genetic diseases [RCV003173966] Chr5:9108184 [GRCh38]
Chr5:9108296 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1630G>A (p.Gly544Ser) single nucleotide variant Inborn genetic diseases [RCV003220794] Chr5:9122807 [GRCh38]
Chr5:9122919 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1298G>A (p.Arg433Gln) single nucleotide variant Inborn genetic diseases [RCV003179398] Chr5:9154671 [GRCh38]
Chr5:9154783 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1675G>A (p.Ala559Thr) single nucleotide variant Inborn genetic diseases [RCV003283160] Chr5:9122762 [GRCh38]
Chr5:9122874 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1711G>A (p.Asp571Asn) single nucleotide variant Inborn genetic diseases [RCV003175816] Chr5:9122726 [GRCh38]
Chr5:9122838 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2920G>C (p.Val974Leu) single nucleotide variant Inborn genetic diseases [RCV003200138] Chr5:9044558 [GRCh38]
Chr5:9044670 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.93G>C (p.Gln31His) single nucleotide variant Inborn genetic diseases [RCV003285945] Chr5:9379854 [GRCh38]
Chr5:9379966 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 copy number loss Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718] Chr5:9999..14320000 [GRCh38]
Chr5:5p15.33-15.2		 pathogenic
NM_003966.3(SEMA5A):c.1249G>A (p.Val417Ile) single nucleotide variant Inborn genetic diseases [RCV003359365] Chr5:9190291 [GRCh38]
Chr5:9190403 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2599T>A (p.Ser867Thr) single nucleotide variant Inborn genetic diseases [RCV003361582] Chr5:9054177 [GRCh38]
Chr5:9054289 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2048G>A (p.Gly683Glu) single nucleotide variant Inborn genetic diseases [RCV003379725] Chr5:9108165 [GRCh38]
Chr5:9108277 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2794G>A (p.Gly932Arg) single nucleotide variant Inborn genetic diseases [RCV003366002] Chr5:9051924 [GRCh38]
Chr5:9052036 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1225G>A (p.Val409Met) single nucleotide variant Inborn genetic diseases [RCV003353423] Chr5:9190315 [GRCh38]
Chr5:9190427 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1934A>G (p.Asn645Ser) single nucleotide variant Inborn genetic diseases [RCV003351554] Chr5:9108279 [GRCh38]
Chr5:9108391 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.143G>A (p.Arg48Gln) single nucleotide variant Inborn genetic diseases [RCV003346792] Chr5:9337794 [GRCh38]
Chr5:9337906 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2571C>T (p.Cys857=) single nucleotide variant not provided [RCV003457427] Chr5:9054205 [GRCh38]
Chr5:9054317 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.454C>T (p.His152Tyr) single nucleotide variant Inborn genetic diseases [RCV003350872] Chr5:9224866 [GRCh38]
Chr5:9224978 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.85C>T (p.Gln29Ter) single nucleotide variant Infantile epilepsy syndrome [RCV003447796] Chr5:9379862 [GRCh38]
Chr5:9379974 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1 copy number loss not provided [RCV003485448] Chr5:113577..11095056 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 copy number loss not provided [RCV003485450] Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.31-15.1(chr5:9002950-15174932)x1 copy number loss not provided [RCV003485455] Chr5:9002950..15174932 [GRCh37]
Chr5:5p15.31-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1 copy number loss not provided [RCV003485453] Chr5:862398..18927500 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 copy number loss not provided [RCV003485449] Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 copy number gain not provided [RCV003484599] Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_003966.3(SEMA5A):c.1541C>T (p.Thr514Ile) single nucleotide variant SEMA5A-related condition [RCV003421167] Chr5:9136562 [GRCh38]
Chr5:9136674 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.2866A>G (p.Ser956Gly) single nucleotide variant not provided [RCV003436384] Chr5:9050437 [GRCh38]
Chr5:9050549 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.3039C>T (p.Pro1013=) single nucleotide variant SEMA5A-related condition [RCV003929137]|not provided [RCV003436383] Chr5:9044439 [GRCh38]
Chr5:9044551 [GRCh37]
Chr5:5p15.31		 benign|likely benign
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 copy number loss not specified [RCV003986560] Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 copy number loss not specified [RCV003986593] Chr5:113576..19388145 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1 copy number loss not specified [RCV003986598] Chr5:3272715..17317051 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1 copy number loss not specified [RCV003986599] Chr5:113576..10835556 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1 copy number loss not specified [RCV003986556] Chr5:5259461..29748394 [GRCh37]
Chr5:5p15.32-13.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 copy number loss not specified [RCV003986589] Chr5:113576..17511896 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 copy number loss not specified [RCV003986544] Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_003966.3(SEMA5A):c.2943C>T (p.Leu981=) single nucleotide variant SEMA5A-related condition [RCV003974401] Chr5:9044535 [GRCh38]
Chr5:9044647 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.1659G>T (p.Thr553=) single nucleotide variant SEMA5A-related condition [RCV003982486] Chr5:9122778 [GRCh38]
Chr5:9122890 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.2328G>T (p.Gly776=) single nucleotide variant SEMA5A-related condition [RCV003944179] Chr5:9063077 [GRCh38]
Chr5:9063189 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2595C>T (p.Thr865=) single nucleotide variant SEMA5A-related condition [RCV003909790] Chr5:9054181 [GRCh38]
Chr5:9054293 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.1781+5G>T single nucleotide variant SEMA5A-related condition [RCV003911689] Chr5:9122651 [GRCh38]
Chr5:9122763 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.1858C>T (p.Arg620Cys) single nucleotide variant SEMA5A-related condition [RCV003964111] Chr5:9119065 [GRCh38]
Chr5:9119177 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_003966.3(SEMA5A):c.456T>C (p.His152=) single nucleotide variant SEMA5A-related condition [RCV003931648] Chr5:9224864 [GRCh38]
Chr5:9224976 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.3008C>T (p.Ala1003Val) single nucleotide variant SEMA5A-related condition [RCV003907316] Chr5:9044470 [GRCh38]
Chr5:9044582 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.1041G>A (p.Pro347=) single nucleotide variant SEMA5A-related condition [RCV003961464] Chr5:9197195 [GRCh38]
Chr5:9197307 [GRCh37]
Chr5:5p15.31		 likely benign
NM_003966.3(SEMA5A):c.2984G>A (p.Arg995Gln) single nucleotide variant SEMA5A-related condition [RCV003932079] Chr5:9044494 [GRCh38]
Chr5:9044606 [GRCh37]
Chr5:5p15.31		 benign
NM_003966.3(SEMA5A):c.1569G>C (p.Thr523=) single nucleotide variant SEMA5A-related condition [RCV003979625] Chr5:9136534 [GRCh38]
Chr5:9136646 [GRCh37]
Chr5:5p15.31		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3883
Count of miRNA genes:1323
Interacting mature miRNAs:1728
Transcripts:ENST00000382496, ENST00000509486, ENST00000513968, ENST00000514923
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
D5S807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,207,937 - 9,208,133UniSTSGRCh37
Build 3659,260,937 - 9,261,133RGDNCBI36
Celera59,248,249 - 9,248,413RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,193,015 - 9,193,179UniSTS
Marshfield Genetic Map519.02UniSTS
Marshfield Genetic Map519.02RGD
deCODE Assembly Map523.01UniSTS
Stanford-G3 RH Map5323.0UniSTS
Whitehead-RH Map541.4UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map553.1UniSTS
D5S2095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,381,979 - 9,382,145UniSTSGRCh37
Build 3659,434,979 - 9,435,145RGDNCBI36
Celera59,422,205 - 9,422,359RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,367,275 - 9,367,434UniSTS
Marshfield Genetic Map519.67UniSTS
Marshfield Genetic Map519.67RGD
Genethon Genetic Map518.6UniSTS
deCODE Assembly Map523.44UniSTS
G20633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,035,236 - 9,035,375UniSTSGRCh37
Build 3659,088,236 - 9,088,375RGDNCBI36
Celera59,075,770 - 9,075,909RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,020,716 - 9,020,855UniSTS
A005Z39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,035,236 - 9,035,375UniSTSGRCh37
Build 3659,088,236 - 9,088,375RGDNCBI36
Celera59,075,770 - 9,075,909RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,020,716 - 9,020,855UniSTS
GeneMap99-GB4 RH Map531.77UniSTS
STS-U10508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,389,702 - 9,389,891UniSTSGRCh37
Build 3659,442,702 - 9,442,891RGDNCBI36
Celera59,429,905 - 9,430,094RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,374,985 - 9,375,174UniSTS
GeneMap99-GB4 RH Map538.13UniSTS
NCBI RH Map553.1UniSTS
RH92606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,037,874 - 9,038,011UniSTSGRCh37
Build 3659,090,874 - 9,091,011RGDNCBI36
Celera59,078,403 - 9,078,540RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,023,349 - 9,023,486UniSTS
GeneMap99-GB4 RH Map531.77UniSTS
RH122478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,378,523 - 9,378,842UniSTSGRCh37
Build 3659,431,523 - 9,431,842RGDNCBI36
Celera59,418,749 - 9,419,068RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,363,819 - 9,364,138UniSTS
TNG Radiation Hybrid Map54013.0UniSTS
D5S1512E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,361,880 - 9,362,072UniSTSGRCh37
Build 3659,414,880 - 9,415,072RGDNCBI36
Celera59,402,106 - 9,402,298RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,347,177 - 9,347,369UniSTS
D5S1514E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,465,957 - 9,466,082UniSTSGRCh37
Build 3659,518,957 - 9,519,082RGDNCBI36
Celera59,506,220 - 9,506,345RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,449,690 - 9,449,815UniSTS
D5S1515E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,389,614 - 9,389,898UniSTSGRCh37
Build 3659,442,614 - 9,442,898RGDNCBI36
Celera59,429,817 - 9,430,101RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,374,897 - 9,375,181UniSTS
D5S1516E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,376,456 - 9,376,634UniSTSGRCh37
Build 3659,429,456 - 9,429,634RGDNCBI36
Celera59,416,682 - 9,416,860RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,361,752 - 9,361,930UniSTS
D5S1518E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,461,391 - 9,461,523UniSTSGRCh37
Build 3659,514,391 - 9,514,523RGDNCBI36
Celera59,501,654 - 9,501,786RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,445,130 - 9,445,262UniSTS
SHGC-149224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,451,892 - 9,452,212UniSTSGRCh37
Build 3659,504,892 - 9,505,212RGDNCBI36
Celera59,492,157 - 9,492,477RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,435,630 - 9,435,950UniSTS
TNG Radiation Hybrid Map54021.0UniSTS
SHGC-149507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,124,560 - 9,124,909UniSTSGRCh37
Build 3659,177,560 - 9,177,909RGDNCBI36
Celera59,165,079 - 9,165,428RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,110,017 - 9,110,366UniSTS
TNG Radiation Hybrid Map53925.0UniSTS
SEMA5A_1487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,038,758 - 9,039,594UniSTSGRCh37
Build 3659,091,758 - 9,092,594RGDNCBI36
Celera59,079,287 - 9,080,125RGD
HuRef59,024,233 - 9,025,071UniSTS
D5S1880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,251,626 - 9,251,779UniSTSGRCh37
Build 3659,304,626 - 9,304,779RGDNCBI36
Celera59,291,904 - 9,292,057RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,236,671 - 9,236,824UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH12734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,035,259 - 9,035,420UniSTSGRCh37
Build 3659,088,259 - 9,088,420RGDNCBI36
Celera59,075,793 - 9,075,954RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,020,739 - 9,020,900UniSTS
GeneMap99-GB4 RH Map50.0UniSTS
RH46269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,035,894 - 9,036,054UniSTSGRCh37
Build 3659,088,894 - 9,089,054RGDNCBI36
Celera59,076,428 - 9,076,588RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,021,374 - 9,021,534UniSTS
GeneMap99-GB4 RH Map531.81UniSTS
NCBI RH Map553.1UniSTS
D5S1842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,229,729 - 9,229,828UniSTSGRCh37
Build 3659,282,729 - 9,282,828RGDNCBI36
Celera59,270,010 - 9,270,109RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,214,776 - 9,214,875UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH65788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,042,590 - 9,042,712UniSTSGRCh37
Build 3659,095,590 - 9,095,712RGDNCBI36
Celera59,083,121 - 9,083,243RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,028,067 - 9,028,189UniSTS
GeneMap99-GB4 RH Map536.45UniSTS
RH45272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3759,476,569 - 9,476,766UniSTSGRCh37
Build 3659,529,569 - 9,529,766RGDNCBI36
Celera59,516,862 - 9,517,059RGD
Cytogenetic Map5p15.2UniSTS
HuRef59,460,333 - 9,460,530UniSTS
GeneMap99-GB4 RH Map535.62UniSTS
NCBI RH Map553.1UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 128 151 22 8 50 10 851 42 893 176 191 361 4 1 210 632 2
Low 2247 2047 1550 563 646 402 3116 1707 2818 235 1220 1152 168 993 1771 3 2
Below cutoff 43 742 143 47 878 47 389 426 17 7 33 55 2 1 385 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC034214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF009314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF056434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM669539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX788776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA336109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000382496   ⟹   ENSP00000371936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl59,035,033 - 9,546,075 (-)Ensembl
RefSeq Acc Id: ENST00000509486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl59,237,719 - 9,380,023 (-)Ensembl
RefSeq Acc Id: ENST00000513968   ⟹   ENSP00000421961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl59,202,124 - 9,380,201 (-)Ensembl
RefSeq Acc Id: ENST00000514923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl59,202,124 - 9,265,545 (-)Ensembl
RefSeq Acc Id: ENST00000652226   ⟹   ENSP00000499013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl59,040,644 - 9,546,075 (-)Ensembl
RefSeq Acc Id: NM_003966   ⟹   NP_003957
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,546,075 (-)NCBI
GRCh3759,035,138 - 9,546,233 (-)ENTREZGENE
Build 3659,088,138 - 9,599,233 (-)NCBI Archive
HuRef59,020,618 - 9,529,962 (-)ENTREZGENE
CHM1_159,034,070 - 9,546,215 (-)NCBI
T2T-CHM13v2.058,974,898 - 9,485,840 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714506   ⟹   XP_006714569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,546,075 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714507   ⟹   XP_006714570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,409,838 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514155   ⟹   XP_011512457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,546,075 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514156   ⟹   XP_011512458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,546,075 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514157   ⟹   XP_011512459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,546,075 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514158   ⟹   XP_011512460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,546,075 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514159   ⟹   XP_011512461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,269,059 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417865   ⟹   XP_047273821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,546,075 (-)NCBI
RefSeq Acc Id: XM_047417866   ⟹   XP_047273822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,546,075 (-)NCBI
RefSeq Acc Id: XM_047417867   ⟹   XP_047273823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,035,033 - 9,379,885 (-)NCBI
RefSeq Acc Id: XM_054353755   ⟹   XP_054209730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.058,974,898 - 9,485,840 (-)NCBI
RefSeq Acc Id: XM_054353756   ⟹   XP_054209731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.058,974,898 - 9,485,840 (-)NCBI
RefSeq Acc Id: XM_054353757   ⟹   XP_054209732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.058,974,898 - 9,485,840 (-)NCBI
RefSeq Acc Id: XM_054353758   ⟹   XP_054209733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.058,974,898 - 9,485,841 (-)NCBI
RefSeq Acc Id: XM_054353759   ⟹   XP_054209734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.058,974,898 - 9,485,840 (-)NCBI
RefSeq Acc Id: XM_054353760   ⟹   XP_054209735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.058,974,898 - 9,349,904 (-)NCBI
RefSeq Acc Id: XM_054353761   ⟹   XP_054209736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.058,974,898 - 9,485,916 (-)NCBI
RefSeq Acc Id: XM_054353762   ⟹   XP_054209737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.058,974,898 - 9,485,856 (-)NCBI
RefSeq Acc Id: XM_054353763   ⟹   XP_054209738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.058,974,898 - 9,208,841 (-)NCBI
RefSeq Acc Id: XM_054353764   ⟹   XP_054209739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.058,974,898 - 9,319,906 (-)NCBI
Protein Sequences
Protein RefSeqs NP_003957 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714569 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714570 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512457 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512458 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512459 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512460 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512461 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273821 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273822 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273823 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209730 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209731 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209732 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209733 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209734 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209735 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209736 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209737 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209738 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209739 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC09473 (Get FASTA)   NCBI Sequence Viewer  
  AAC14668 (Get FASTA)   NCBI Sequence Viewer  
  AAI15697 (Get FASTA)   NCBI Sequence Viewer  
  AHW56577 (Get FASTA)   NCBI Sequence Viewer  
  AHW56716 (Get FASTA)   NCBI Sequence Viewer  
  BAG56944 (Get FASTA)   NCBI Sequence Viewer  
  EAX08078 (Get FASTA)   NCBI Sequence Viewer  
  EAX08079 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000371936
  ENSP00000371936.5
  ENSP00000421961.1
  ENSP00000499013
  ENSP00000499013.1
GenBank Protein Q13591 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003957   ⟸   NM_003966
- Peptide Label: precursor
- UniProtKB: O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   Q13591 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714569   ⟸   XM_006714506
- Peptide Label: isoform X1
- UniProtKB: O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   Q13591 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714570   ⟸   XM_006714507
- Peptide Label: isoform X1
- UniProtKB: O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   Q13591 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512460   ⟸   XM_011514158
- Peptide Label: isoform X1
- UniProtKB: O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   Q13591 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512459   ⟸   XM_011514157
- Peptide Label: isoform X1
- UniProtKB: O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   Q13591 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512458   ⟸   XM_011514156
- Peptide Label: isoform X1
- UniProtKB: O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   Q13591 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512457   ⟸   XM_011514155
- Peptide Label: isoform X1
- UniProtKB: O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   Q13591 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512461   ⟸   XM_011514159
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000499013   ⟸   ENST00000652226
RefSeq Acc Id: ENSP00000421961   ⟸   ENST00000513968
RefSeq Acc Id: ENSP00000371936   ⟸   ENST00000382496
RefSeq Acc Id: XP_047273821   ⟸   XM_047417865
- Peptide Label: isoform X1
- UniProtKB: Q13591 (UniProtKB/Swiss-Prot),   O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047273822   ⟸   XM_047417866
- Peptide Label: isoform X1
- UniProtKB: Q13591 (UniProtKB/Swiss-Prot),   O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047273823   ⟸   XM_047417867
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054209736   ⟸   XM_054353761
- Peptide Label: isoform X1
- UniProtKB: Q13591 (UniProtKB/Swiss-Prot),   O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209737   ⟸   XM_054353762
- Peptide Label: isoform X1
- UniProtKB: Q13591 (UniProtKB/Swiss-Prot),   O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209733   ⟸   XM_054353758
- Peptide Label: isoform X1
- UniProtKB: Q13591 (UniProtKB/Swiss-Prot),   O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209734   ⟸   XM_054353759
- Peptide Label: isoform X1
- UniProtKB: Q13591 (UniProtKB/Swiss-Prot),   O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209732   ⟸   XM_054353757
- Peptide Label: isoform X1
- UniProtKB: Q13591 (UniProtKB/Swiss-Prot),   O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209730   ⟸   XM_054353755
- Peptide Label: isoform X1
- UniProtKB: Q13591 (UniProtKB/Swiss-Prot),   O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209731   ⟸   XM_054353756
- Peptide Label: isoform X1
- UniProtKB: Q13591 (UniProtKB/Swiss-Prot),   O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209735   ⟸   XM_054353760
- Peptide Label: isoform X1
- UniProtKB: Q13591 (UniProtKB/Swiss-Prot),   O60408 (UniProtKB/Swiss-Prot),   D3DTC6 (UniProtKB/Swiss-Prot),   Q1RLL9 (UniProtKB/Swiss-Prot),   X5DR95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209739   ⟸   XM_054353764
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054209738   ⟸   XM_054353763
- Peptide Label: isoform X2
Protein Domains
Sema   TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13591-F1-model_v2 AlphaFold Q13591 1-1074 view protein structure

Promoters
RGD ID:6869234
Promoter ID:EPDNEW_H7782
Type:initiation region
Name:SEMA5A_1
Description:semaphorin 5A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3859,546,075 - 9,546,135EPDNEW
RGD ID:6803528
Promoter ID:HG_KWN:49776
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_003966
Position:
Human AssemblyChrPosition (strand)Source
Build 3659,598,876 - 9,599,376 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10736 AgrOrtholog
COSMIC SEMA5A COSMIC
Ensembl Genes ENSG00000112902 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000382496 ENTREZGENE
  ENST00000382496.10 UniProtKB/Swiss-Prot
  ENST00000513968.4 UniProtKB/TrEMBL
  ENST00000652226 ENTREZGENE
  ENST00000652226.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.20.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ligand-binding face of the semaphorins, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112902 GTEx
HGNC ID HGNC:10736 ENTREZGENE
Human Proteome Map SEMA5A Human Proteome Map
InterPro Plexin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema5A_sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semap_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semap_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semaphorin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9037 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9037 ENTREZGENE
OMIM 609297 OMIM
PANTHER PTHR11036 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEMAPHORIN-5A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35658 PharmGKB
PRINTS TSP1REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SEMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Plexin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF101912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DTC6 ENTREZGENE
  D6RAF4_HUMAN UniProtKB/TrEMBL
  O60408 ENTREZGENE
  Q13591 ENTREZGENE
  Q1RLL9 ENTREZGENE
  SEM5A_HUMAN UniProtKB/Swiss-Prot
  X5DPA6_HUMAN UniProtKB/TrEMBL
  X5DR95 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D3DTC6 UniProtKB/Swiss-Prot
  O60408 UniProtKB/Swiss-Prot
  Q1RLL9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 SEMA5A  semaphorin 5A    sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A  Symbol and/or name change 5135510 APPROVED