SEMA7A (semaphorin 7A (John Milton Hagen blood group)) - Rat Genome Database
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Gene: SEMA7A (semaphorin 7A (John Milton Hagen blood group)) Homo sapiens
Analyze
Symbol: SEMA7A
Name: semaphorin 7A (John Milton Hagen blood group)
RGD ID: 1313074
HGNC Page HGNC
Description: Predicted to have chemorepellent activity; integrin binding activity; and semaphorin receptor binding activity. Involved in integrin-mediated signaling pathway; positive regulation of ERK1 and ERK2 cascade; and positive regulation of axon extension. Localizes to membrane. Colocalizes with collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD108; CDw108; H-SEMA-K1; H-Sema-L; JMH; JMH blood group antigen; John Milton Hagen blood group H-Sema K1; john-Milton-Hargen human blood group Ag; MGC126692; MGC126696; sema domain, immunoglobulin domain (ig), and gpi membrane anchor, (semaphorin) 7a; sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group); sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, 7A; sema K1; sema L; SEMAK1; SEMAL; semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group); semaphorin K1; semaphorin L; semaphorin-7A; semaphorin-K1; semaphorin-L
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1574,409,289 - 74,433,958 (-)EnsemblGRCh38hg38GRCh38
GRCh381574,409,289 - 74,433,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371574,701,630 - 74,726,299 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,489,376 - 72,513,329 (-)NCBINCBI36hg18NCBI36
Build 341572,489,375 - 72,513,329NCBI
Celera1551,648,857 - 51,673,527 (-)NCBI
Cytogenetic Map15q24.1NCBI
HuRef1551,497,440 - 51,522,110 (-)NCBIHuRef
CHM1_11574,819,747 - 74,844,422 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:9712866   PMID:9721204   PMID:10201933   PMID:10416131   PMID:10520995   PMID:10885563   PMID:12193228   PMID:12477932   PMID:12879062   PMID:14702039   PMID:15489334   PMID:15907379  
PMID:16199891   PMID:16210410   PMID:16344560   PMID:16372136   PMID:17207242   PMID:17377534   PMID:17474147   PMID:17485510   PMID:17671519   PMID:18422858   PMID:18987670   PMID:19318806  
PMID:20727575   PMID:20854351   PMID:21524887   PMID:21873635   PMID:22448926   PMID:22837378   PMID:22845496   PMID:22891341   PMID:23166499   PMID:23850082   PMID:24333536   PMID:24522099  
PMID:25275127   PMID:25406498   PMID:26432853   PMID:26597008   PMID:26752048   PMID:27065336   PMID:28109308   PMID:28327460   PMID:28336906   PMID:28514442   PMID:29269512   PMID:29478914  
PMID:29509252   PMID:30254150   PMID:30729666   PMID:31016720   PMID:31394943   PMID:31732974   PMID:32161256   PMID:32313230  


Genomics

Comparative Map Data
SEMA7A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1574,409,289 - 74,433,958 (-)EnsemblGRCh38hg38GRCh38
GRCh381574,409,289 - 74,433,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371574,701,630 - 74,726,299 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,489,376 - 72,513,329 (-)NCBINCBI36hg18NCBI36
Build 341572,489,375 - 72,513,329NCBI
Celera1551,648,857 - 51,673,527 (-)NCBI
Cytogenetic Map15q24.1NCBI
HuRef1551,497,440 - 51,522,110 (-)NCBIHuRef
CHM1_11574,819,747 - 74,844,422 (-)NCBICHM1_1
Sema7a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39957,846,879 - 57,870,148 (+)NCBIGRCm39mm39
GRCm39 Ensembl957,847,395 - 57,870,148 (+)Ensembl
GRCm38957,939,596 - 57,962,865 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl957,940,112 - 57,962,865 (+)EnsemblGRCm38mm10GRCm38
MGSCv37957,787,942 - 57,810,672 (+)NCBIGRCm37mm9NCBIm37
MGSCv36957,738,272 - 57,761,002 (+)NCBImm8
Celera955,172,627 - 55,195,358 (+)NCBICelera
Cytogenetic Map9BNCBI
Sema7a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2858,348,448 - 58,370,536 (+)NCBI
Rnor_6.0 Ensembl862,723,788 - 62,745,868 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0862,723,788 - 62,746,530 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0862,499,077 - 62,521,157 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4861,717,449 - 61,739,529 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1861,736,491 - 61,759,245 (+)NCBI
Celera857,812,746 - 57,834,816 (+)NCBICelera
Cytogenetic Map8q24NCBI
Sema7a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554503,401,777 - 3,423,363 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554503,401,732 - 3,424,547 (+)NCBIChiLan1.0ChiLan1.0
SEMA7A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11572,972,475 - 72,996,987 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1572,972,475 - 72,996,953 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01553,351,662 - 53,376,327 (-)NCBIMhudiblu_PPA_v0panPan3
SEMA7A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13037,531,986 - 37,547,650 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3037,531,971 - 37,566,645 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3037,466,091 - 37,488,072 (-)NCBI
ROS_Cfam_1.03037,737,728 - 37,759,702 (-)NCBI
UMICH_Zoey_3.13037,690,238 - 37,712,193 (-)NCBI
UNSW_CanFamBas_1.03037,715,461 - 37,737,421 (-)NCBI
UU_Cfam_GSD_1.03037,971,301 - 37,993,275 (-)NCBI
Sema7a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_024408640115,582,526 - 115,606,288 (-)NCBI
SpeTri2.0NW_00493647133,430,589 - 33,454,353 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEMA7A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl759,094,932 - 59,119,534 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1759,094,919 - 59,119,534 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SEMA7A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1269,039,774 - 9,063,700 (+)NCBI
Sema7a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624781221,821 - 244,854 (+)NCBI

Position Markers
SEMA7A_817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,702,303 - 74,703,172UniSTSGRCh37
Build 361572,489,356 - 72,490,225RGDNCBI36
Celera1551,649,531 - 51,650,400RGD
HuRef1551,498,114 - 51,498,983UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2526
Count of miRNA genes:786
Interacting mature miRNAs:922
Transcripts:ENST00000261918, ENST00000542748, ENST00000543145, ENST00000567345, ENST00000569617
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.


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 174 125 92 44 1007 44 1624 38 2187 75 670 363 12 1 13 1039 5
Low 2243 2661 1557 517 912 358 2649 1988 1528 327 790 1225 162 1185 1668 1 2
Below cutoff 21 205 77 63 29 63 84 171 19 17 25 6 81

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF030697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF030698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF071542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI972833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM180445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM180446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM180447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM180448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM180449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM180450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM180451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY885237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF792612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU191525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA136330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA232032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA815098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC408557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT017654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261918   ⟹   ENSP00000261918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,409,289 - 74,433,958 (-)Ensembl
RefSeq Acc Id: ENST00000542748   ⟹   ENSP00000441493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,410,026 - 74,433,704 (-)Ensembl
RefSeq Acc Id: ENST00000543145   ⟹   ENSP00000438966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,410,316 - 74,433,955 (-)Ensembl
RefSeq Acc Id: ENST00000569617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1574,410,968 - 74,411,639 (-)Ensembl
RefSeq Acc Id: NM_001146029   ⟹   NP_001139501
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,409,289 - 74,433,958 (-)NCBI
GRCh371574,701,630 - 74,726,299 (-)ENTREZGENE
HuRef1551,497,440 - 51,522,110 (-)ENTREZGENE
CHM1_11574,819,747 - 74,844,422 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001146030   ⟹   NP_001139502
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,409,289 - 74,433,704 (-)NCBI
GRCh371574,701,630 - 74,726,299 (-)ENTREZGENE
HuRef1551,497,440 - 51,522,110 (-)ENTREZGENE
CHM1_11574,819,747 - 74,844,167 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003612   ⟹   NP_003603
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,409,289 - 74,433,958 (-)NCBI
GRCh371574,701,630 - 74,726,299 (-)ENTREZGENE
Build 361572,489,376 - 72,513,329 (-)NCBI Archive
HuRef1551,497,440 - 51,522,110 (-)ENTREZGENE
CHM1_11574,819,747 - 74,844,422 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001139501   ⟸   NM_001146029
- Peptide Label: isoform 2 precursor
- UniProtKB: O75326 (UniProtKB/Swiss-Prot),   B3KMH6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003603   ⟸   NM_003612
- Peptide Label: isoform 1 preproprotein
- UniProtKB: O75326 (UniProtKB/Swiss-Prot),   B3KMH6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139502   ⟸   NM_001146030
- Peptide Label: isoform 3
- UniProtKB: O75326 (UniProtKB/Swiss-Prot),   B3KMH6 (UniProtKB/TrEMBL),   F5GYX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000441493   ⟸   ENST00000542748
RefSeq Acc Id: ENSP00000438966   ⟸   ENST00000543145
RefSeq Acc Id: ENSP00000261918   ⟸   ENST00000261918
Protein Domains
Ig-like   Ig-like C2-type   Sema

Promoters
RGD ID:6815093
Promoter ID:HG_MRA:5474
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK001895
Position:
Human AssemblyChrPosition (strand)Source
Build 361572,495,756 - 72,496,256 (-)MPROMDB
RGD ID:6792578
Promoter ID:HG_KWN:21901
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001146029,   NM_001146030,   OTTHUMT00000272904
Position:
Human AssemblyChrPosition (strand)Source
Build 361572,513,096 - 72,513,597 (-)MPROMDB
RGD ID:7230087
Promoter ID:EPDNEW_H20789
Type:initiation region
Name:SEMA7A_1
Description:semaphorin 7A
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
GRCh381574,433,958 - 74,434,018EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003612.5(SEMA7A):c.620G>A (p.Arg207Gln) single nucleotide variant John Milton Hagen blood group system [RCV000029232] Chr15:74417376 [GRCh38]
Chr15:74709717 [GRCh37]
Chr15:15q24.1
pathogenic|affects
NM_003612.5(SEMA7A):c.619C>T (p.Arg207Trp) single nucleotide variant John Milton Hagen blood group system [RCV000029233] Chr15:74417377 [GRCh38]
Chr15:74709718 [GRCh37]
Chr15:15q24.1
pathogenic|affects
NM_003612.5(SEMA7A):c.1379G>A (p.Arg460His) single nucleotide variant John Milton Hagen blood group system [RCV000029234] Chr15:74411928 [GRCh38]
Chr15:74704269 [GRCh37]
Chr15:15q24.1
pathogenic|affects
NM_003612.5(SEMA7A):c.1381C>T (p.Arg461Cys) single nucleotide variant John Milton Hagen blood group system [RCV000029235] Chr15:74411926 [GRCh38]
Chr15:74704267 [GRCh37]
Chr15:15q24.1
pathogenic|affects
NM_003612.5(SEMA7A):c.1040G>T (p.Arg347Leu) single nucleotide variant John Milton Hagen blood group system [RCV000029236] Chr15:74414893 [GRCh38]
Chr15:74707234 [GRCh37]
Chr15:15q24.1
pathogenic|affects
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 copy number loss See cases [RCV000051128] Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 copy number gain See cases [RCV000051821] Chr15:72629028..75242989 [GRCh38]
Chr15:72921369..75535330 [GRCh37]
Chr15:70708423..73322383 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|See cases [RCV000053220] Chr15:74106871..75727625 [GRCh38]
Chr15:74399212..76019966 [GRCh37]
Chr15:72186265..73807021 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 copy number loss See cases [RCV000137347] Chr15:72671629..75199803 [GRCh38]
Chr15:72963970..75492144 [GRCh37]
Chr15:70751023..73279197 [NCBI36]
Chr15:15q24.1-24.2
likely pathogenic|likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 copy number loss See cases [RCV000142748] Chr15:72671629..75242989 [GRCh38]
Chr15:72963970..75535330 [GRCh37]
Chr15:70751023..73322383 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 copy number loss See cases [RCV000240271] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 copy number gain See cases [RCV000240526] Chr15:74368270..78122737 [GRCh37]
Chr15:15q24.1-24.3
uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2
not provided
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss See cases [RCV000510609] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
Single allele deletion not provided [RCV000677994] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
Single allele duplication Schizophrenia [RCV000754166] Chr15:72640623..75277317 [GRCh38]
Chr15:15q24.1-24.2
likely pathogenic
Single allele duplication Schizophrenia [RCV000754167] Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3
likely pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1 copy number loss not provided [RCV000751338] Chr15:72965159..75513545 [GRCh37]
Chr15:15q24.1-24.2
uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_003612.5(SEMA7A):c.618_619del (p.Ile206fs) deletion John Milton Hagen blood group system [RCV000859987] Chr15:74417377..74417378 [GRCh38]
Chr15:74709718..74709719 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1 copy number loss not provided [RCV000848080] Chr15:72926922..75544524 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1 copy number loss not provided [RCV000849229] Chr15:72943184..75544524 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
NM_003612.5(SEMA7A):c.343T>A (p.Ser115Thr) single nucleotide variant not provided [RCV000962378] Chr15:74418297 [GRCh38]
Chr15:74710638 [GRCh37]
Chr15:15q24.1
benign
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss not provided [RCV001006709] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
NM_003612.5(SEMA7A):c.916G>A (p.Val306Ile) single nucleotide variant John Milton Hagen blood group system [RCV000859988] Chr15:74415871 [GRCh38]
Chr15:74708212 [GRCh37]
Chr15:15q24.1
likely benign
GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1 copy number loss not provided [RCV001259708] Chr15:74398162..76054094 [GRCh37]
Chr15:15q24.1-24.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10741 AgrOrtholog
COSMIC SEMA7A COSMIC
Ensembl Genes ENSG00000138623 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000288455 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000261918 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000438966 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000441493 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500204 UniProtKB/Swiss-Prot
  ENSP00000500448 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000261918 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000542748 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000543145 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000671713 UniProtKB/Swiss-Prot
  ENST00000672978 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138623 GTEx
  ENSG00000288455 GTEx
HGNC ID HGNC:10741 ENTREZGENE
Human Proteome Map SEMA7A 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
  Plexin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema7A_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:8482 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8482 ENTREZGENE
OMIM 607961 OMIM
  614745 OMIM
PANTHER PTHR11036 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ig_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35663 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
Superfamily-SCOP SSF101912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KMH6 ENTREZGENE, UniProtKB/TrEMBL
  F5GYX3 ENTREZGENE, UniProtKB/TrEMBL
  O75326 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DDP7 UniProtKB/Swiss-Prot
  F5H1S0 UniProtKB/Swiss-Prot
  Q1XE81 UniProtKB/Swiss-Prot
  Q1XE82 UniProtKB/Swiss-Prot
  Q1XE83 UniProtKB/Swiss-Prot
  Q1XE84 UniProtKB/Swiss-Prot
  Q3MIY5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 SEMA7A  semaphorin 7A (John Milton Hagen blood group)    semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)  Symbol and/or name change 5135510 APPROVED
2011-08-17 SEMA7A  semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)  SEMA7A  semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)  Symbol and/or name change 5135510 APPROVED