SEMA6C (semaphorin 6C) - Rat Genome Database
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Gene: SEMA6C (semaphorin 6C) Homo sapiens
Analyze
Symbol: SEMA6C
Name: semaphorin 6C
RGD ID: 732717
HGNC Page HGNC
Description: Predicted to have chemorepellent activity and semaphorin receptor binding activity. Involved in negative regulation of axon extension. Localizes to cell surface and cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: m-SemaY; m-SemaY2; sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C; sema Y; semaphorin-6C; semaphorin-Y; SEMAY
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 Ensembl1151,131,685 - 151,146,664 (-)EnsemblGRCh38hg38GRCh38
GRCh381151,131,707 - 151,148,408 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371151,104,183 - 151,119,107 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361149,370,785 - 149,385,728 (-)NCBINCBI36hg18NCBI36
Build 341147,917,234 - 147,932,177NCBI
Celera1124,219,448 - 124,234,432 (-)NCBI
Cytogenetic Map1q21.3NCBI
HuRef1122,481,473 - 122,496,449 (-)NCBIHuRef
CHM1_11152,499,488 - 152,514,467 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:11245885   PMID:11347906   PMID:12477932   PMID:12878157   PMID:16344560   PMID:16710414   PMID:19054571   PMID:21873635   PMID:32296183  


Genomics

Comparative Map Data
SEMA6C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1151,131,685 - 151,146,664 (-)EnsemblGRCh38hg38GRCh38
GRCh381151,131,707 - 151,148,408 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371151,104,183 - 151,119,107 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361149,370,785 - 149,385,728 (-)NCBINCBI36hg18NCBI36
Build 341147,917,234 - 147,932,177NCBI
Celera1124,219,448 - 124,234,432 (-)NCBI
Cytogenetic Map1q21.3NCBI
HuRef1122,481,473 - 122,496,449 (-)NCBIHuRef
CHM1_11152,499,488 - 152,514,467 (-)NCBICHM1_1
Sema6c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39395,067,731 - 95,081,361 (+)NCBIGRCm39mm39
GRCm39 Ensembl395,067,768 - 95,081,335 (+)Ensembl
GRCm38395,160,420 - 95,174,050 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl395,160,457 - 95,174,024 (+)EnsemblGRCm38mm10GRCm38
MGSCv37394,968,296 - 94,977,238 (+)NCBIGRCm37mm9NCBIm37
MGSCv36395,249,778 - 95,258,720 (+)NCBImm8
Celera396,595,452 - 96,604,393 (+)NCBICelera
Cytogenetic Map3F2.1NCBI
Sema6c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22182,733,635 - 182,750,066 (+)NCBI
Rnor_6.0 Ensembl2196,334,626 - 196,344,008 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02196,330,777 - 196,347,218 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02215,827,260 - 215,843,686 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42190,069,489 - 190,078,845 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12190,032,242 - 190,041,599 (+)NCBI
Celera2175,271,228 - 175,280,584 (+)NCBICelera
Cytogenetic Map2q34NCBI
Sema6c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955588490,615 - 500,189 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955588490,581 - 504,436 (-)NCBIChiLan1.0ChiLan1.0
SEMA6C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11130,127,696 - 130,142,611 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1130,128,185 - 130,138,458 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01126,480,899 - 126,496,032 (-)NCBIMhudiblu_PPA_v0panPan3
SEMA6C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11760,195,798 - 60,208,630 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1760,195,785 - 60,208,630 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1759,638,597 - 59,652,183 (-)NCBI
ROS_Cfam_1.01761,211,121 - 61,224,719 (-)NCBI
UMICH_Zoey_3.11760,039,846 - 60,053,446 (-)NCBI
UNSW_CanFamBas_1.01760,125,203 - 60,138,789 (-)NCBI
UU_Cfam_GSD_1.01760,853,137 - 60,866,736 (-)NCBI
Sema6c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440505822,303,469 - 22,316,961 (-)NCBI
SpeTri2.0NW_0049365801,331,950 - 1,347,327 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEMA6C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl498,107,391 - 98,122,348 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1498,107,316 - 98,121,464 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24107,360,109 - 107,374,242 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SEMA6C
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12012,542,234 - 12,557,041 (+)NCBI
ChlSab1.1 Ensembl2012,546,281 - 12,560,674 (+)Ensembl
Sema6c
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477218,707,723 - 18,720,661 (+)NCBI

Position Markers
D1S1757E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,104,683 - 151,104,773UniSTSGRCh37
Build 361149,371,307 - 149,371,397RGDNCBI36
Celera1124,219,970 - 124,220,060RGD
Cytogenetic Map1q21.2UniSTS
HuRef1122,481,995 - 122,482,085UniSTS
RH47819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,104,349 - 151,104,469UniSTSGRCh37
Build 361149,370,973 - 149,371,093RGDNCBI36
Celera1124,219,636 - 124,219,756RGD
Cytogenetic Map1q21.2UniSTS
HuRef1122,481,661 - 122,481,781UniSTS
GeneMap99-GB4 RH Map1552.04UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3222
Count of miRNA genes:805
Interacting mature miRNAs:969
Transcripts:ENST00000341697, ENST00000368912, ENST00000368913, ENST00000368914, ENST00000464018, ENST00000479820, ENST00000485745, ENST00000489944
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1078 1021 563 145 113 99 2913 1804 1888 97 1092 427 50 1 682 1982 1
Low 1343 1766 1162 478 1292 365 1442 391 1846 319 363 1176 125 522 806 5 1
Below cutoff 17 202 1 1 528 1 2 2 3 5 10 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005244835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB022434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB058772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF339152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF339153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF339154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU279414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE253393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA787858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000341697   ⟹   ENSP00000344148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1151,131,707 - 151,146,611 (-)Ensembl
RefSeq Acc Id: ENST00000368912   ⟹   ENSP00000357908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1151,131,685 - 151,146,457 (-)Ensembl
RefSeq Acc Id: ENST00000368913   ⟹   ENSP00000357909
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1151,131,685 - 151,146,457 (-)Ensembl
RefSeq Acc Id: ENST00000368914   ⟹   ENSP00000357910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1151,131,685 - 151,146,628 (-)Ensembl
RefSeq Acc Id: ENST00000464018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1151,134,199 - 151,135,266 (-)Ensembl
RefSeq Acc Id: ENST00000479820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1151,132,067 - 151,132,868 (-)Ensembl
RefSeq Acc Id: ENST00000485745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1151,137,712 - 151,139,461 (-)Ensembl
RefSeq Acc Id: ENST00000489944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1151,134,331 - 151,134,875 (-)Ensembl
RefSeq Acc Id: ENST00000613223   ⟹   ENSP00000482163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1151,132,197 - 151,146,664 (-)Ensembl
RefSeq Acc Id: ENST00000621728   ⟹   ENSP00000483227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1151,131,969 - 151,144,406 (-)Ensembl
RefSeq Acc Id: NM_001178061   ⟹   NP_001171532
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,131,707 - 151,146,631 (-)NCBI
GRCh371151,104,161 - 151,119,146 (-)NCBI
Celera1124,219,448 - 124,234,432 (-)RGD
HuRef1122,481,473 - 122,496,449 (-)RGD
CHM1_11152,499,488 - 152,514,467 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001178062   ⟹   NP_001171533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,131,707 - 151,146,631 (-)NCBI
GRCh371151,104,161 - 151,119,146 (-)NCBI
Celera1124,219,448 - 124,234,432 (-)RGD
HuRef1122,481,473 - 122,496,449 (-)RGD
CHM1_11152,499,488 - 152,514,467 (-)NCBI
Sequence:
RefSeq Acc Id: NM_030913   ⟹   NP_112175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,131,707 - 151,146,631 (-)NCBI
GRCh371151,104,161 - 151,119,146 (-)NCBI
Build 361149,370,785 - 149,385,728 (-)NCBI Archive
Celera1124,219,448 - 124,234,432 (-)RGD
HuRef1122,481,473 - 122,496,449 (-)RGD
CHM1_11152,499,488 - 152,514,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005244835   ⟹   XP_005244892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,132,056 - 151,146,664 (-)NCBI
GRCh371151,104,161 - 151,119,146 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000075   ⟹   XP_016855564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,132,056 - 151,146,384 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000076   ⟹   XP_016855565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,132,056 - 151,146,384 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000077   ⟹   XP_016855566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,131,712 - 151,148,408 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000079   ⟹   XP_016855568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,131,712 - 151,148,408 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000081   ⟹   XP_016855570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,131,712 - 151,148,408 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000082   ⟹   XP_016855571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,132,056 - 151,138,333 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_112175   ⟸   NM_030913
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9H3T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171532   ⟸   NM_001178061
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9H3T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171533   ⟸   NM_001178062
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9H3T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005244892   ⟸   XM_005244835
- Peptide Label: isoform X1
- UniProtKB: Q9H3T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016855570   ⟸   XM_017000081
- Peptide Label: isoform X3
- UniProtKB: Q9H3T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016855568   ⟸   XM_017000079
- Peptide Label: isoform X2
- UniProtKB: Q9H3T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016855566   ⟸   XM_017000077
- Peptide Label: isoform X1
- UniProtKB: Q9H3T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016855564   ⟸   XM_017000075
- Peptide Label: isoform X1
- UniProtKB: Q9H3T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016855565   ⟸   XM_017000076
- Peptide Label: isoform X1
- UniProtKB: Q9H3T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016855571   ⟸   XM_017000082
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000483227   ⟸   ENST00000621728
RefSeq Acc Id: ENSP00000482163   ⟸   ENST00000613223
RefSeq Acc Id: ENSP00000357910   ⟸   ENST00000368914
RefSeq Acc Id: ENSP00000357909   ⟸   ENST00000368913
RefSeq Acc Id: ENSP00000357908   ⟸   ENST00000368912
RefSeq Acc Id: ENSP00000344148   ⟸   ENST00000341697
Protein Domains
Sema

Promoters
RGD ID:6785291
Promoter ID:HG_KWN:4989
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000341697,   ENST00000392791,   ENST00000392792,   OTTHUMT00000034071,   OTTHUMT00000034072,   OTTHUMT00000034073,   UC009WML.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361149,385,571 - 149,386,071 (-)MPROMDB
RGD ID:6857038
Promoter ID:EPDNEW_H1684
Type:initiation region
Name:SEMA6C_1
Description:semaphorin 6C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1685  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,146,628 - 151,146,688EPDNEW
RGD ID:6857040
Promoter ID:EPDNEW_H1685
Type:initiation region
Name:SEMA6C_2
Description:semaphorin 6C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1684  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,147,786 - 151,147,846EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001178061.1(SEMA6C):c.198C>T (p.Phe66=) single nucleotide variant Malignant melanoma [RCV000059872] Chr1:151140011 [GRCh38]
Chr1:151112487 [GRCh37]
Chr1:149379111 [NCBI36]
Chr1:1q21.3
not provided
GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1 copy number loss See cases [RCV000138949] Chr1:150989333..151584777 [GRCh38]
Chr1:150961809..151557253 [GRCh37]
Chr1:149228433..149823877 [NCBI36]
Chr1:1q21.3
likely pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001178061.2(SEMA6C):c.91C>T (p.Leu31Phe) single nucleotide variant not provided [RCV000949466] Chr1:151142531 [GRCh38]
Chr1:151115007 [GRCh37]
Chr1:1q21.3
benign
NM_001178061.2(SEMA6C):c.1628G>C (p.Arg543Thr) single nucleotide variant not provided [RCV000946493] Chr1:151134828 [GRCh38]
Chr1:151107304 [GRCh37]
Chr1:1q21.3
benign
NM_001178061.2(SEMA6C):c.974+7A>C single nucleotide variant not provided [RCV000946494] Chr1:151136850 [GRCh38]
Chr1:151109326 [GRCh37]
Chr1:1q21.3
benign
NM_001178061.2(SEMA6C):c.1434-6C>T single nucleotide variant not provided [RCV000890658] Chr1:151135315 [GRCh38]
Chr1:151107791 [GRCh37]
Chr1:1q21.3
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10740 AgrOrtholog
COSMIC SEMA6C COSMIC
Ensembl Genes ENSG00000143434 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344148 UniProtKB/Swiss-Prot
  ENSP00000357908 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000357909 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000357910 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482163 UniProtKB/TrEMBL
  ENSP00000483227 UniProtKB/TrEMBL
Ensembl Transcript ENST00000341697 UniProtKB/Swiss-Prot
  ENST00000368912 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000368913 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000368914 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000613223 UniProtKB/TrEMBL
  ENST00000621728 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143434 GTEx
HGNC ID HGNC:10740 ENTREZGENE
Human Proteome Map SEMA6C Human Proteome Map
InterPro Semap_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semap_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semaphorin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semaphorin_6C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10500 UniProtKB/Swiss-Prot
NCBI Gene 10500 ENTREZGENE
OMIM 609294 OMIM
PANTHER PTHR11036 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11036:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35662 PharmGKB
PROSITE SEMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF101912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYX3_HUMAN UniProtKB/TrEMBL
  A0A087X0A5_HUMAN UniProtKB/TrEMBL
  Q1RMY5_HUMAN UniProtKB/TrEMBL
  Q24JR3_HUMAN UniProtKB/TrEMBL
  Q9H3T2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DV15 UniProtKB/Swiss-Prot
  Q5JR71 UniProtKB/Swiss-Prot
  Q5JR72 UniProtKB/Swiss-Prot
  Q5JR73 UniProtKB/Swiss-Prot
  Q8WXT8 UniProtKB/Swiss-Prot
  Q8WXT9 UniProtKB/Swiss-Prot
  Q8WXU0 UniProtKB/Swiss-Prot
  Q96JF8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 SEMA6C  semaphorin 6C    sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C  Symbol and/or name change 5135510 APPROVED