SERINC3 (serine incorporator 3) - Rat Genome Database

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Gene: SERINC3 (serine incorporator 3) Homo sapiens
Analyze
Symbol: SERINC3
Name: serine incorporator 3
RGD ID: 1318130
HGNC Page HGNC
Description: Predicted to enable L-serine transmembrane transporter activity. Involved in defense response to virus; detection of virus; and innate immune response. Predicted to be located in Golgi apparatus. Predicted to be active in membrane; INTERACTS WITH (S)-nicotine; 3-isobutyl-1-methyl-7H-xanthine; acrolein.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AIGP1; DIFF33; placental transmembrane protein (mouse testicular tumor differentially expressed); SBBI99; TDE; TDE1; TMS-1; transmembrane protein SBBI99; tumor differentially expressed 1; tumor differentially expressed protein 1; tumour differentially expressed 1
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 Ensembl2044,496,221 - 44,522,085 (-)EnsemblGRCh38hg38GRCh38
GRCh382044,496,221 - 44,522,070 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372043,124,862 - 43,150,711 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362042,558,278 - 42,584,140 (-)NCBINCBI36hg18NCBI36
Build 342042,558,278 - 42,584,140NCBI
Celera2039,833,511 - 39,859,373 (-)NCBI
Cytogenetic Map20q13.12NCBI
HuRef2039,866,337 - 39,892,269 (-)NCBIHuRef
CHM1_12043,027,972 - 43,053,852 (-)NCBICHM1_1
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
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
aflatoxin B1  (ISO)
alpha-pinene  (EXP)
amiodarone  (ISO)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
asbestos  (EXP)
azathioprine  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
bisphenol F  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (ISO)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
L-ethionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
methotrexate  (ISO)
nickel dichloride  (ISO)
nicotine  (EXP)
omeprazole  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rotenone  (ISO)
sodium dodecyl sulfate  (ISO)
succimer  (ISO)
tacrolimus hydrate  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7566098   PMID:8125298   PMID:8889548   PMID:10559794   PMID:11780052   PMID:12477932   PMID:15146197   PMID:15489334   PMID:16344560   PMID:16547497   PMID:17353931   PMID:19322201  
PMID:21297633   PMID:21873635   PMID:21988832   PMID:22925353   PMID:26416733   PMID:26416734   PMID:26439863   PMID:26496610   PMID:28298427   PMID:30021884   PMID:31186327   PMID:31586073  
PMID:32513696   PMID:32788212   PMID:32814053  


Genomics

Comparative Map Data
SERINC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2044,496,221 - 44,522,085 (-)EnsemblGRCh38hg38GRCh38
GRCh382044,496,221 - 44,522,070 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372043,124,862 - 43,150,711 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362042,558,278 - 42,584,140 (-)NCBINCBI36hg18NCBI36
Build 342042,558,278 - 42,584,140NCBI
Celera2039,833,511 - 39,859,373 (-)NCBI
Cytogenetic Map20q13.12NCBI
HuRef2039,866,337 - 39,892,269 (-)NCBIHuRef
CHM1_12043,027,972 - 43,053,852 (-)NCBICHM1_1
Serinc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392163,465,193 - 163,487,071 (-)NCBIGRCm39mm39
GRCm39 Ensembl2163,465,192 - 163,487,051 (-)Ensembl
GRCm382163,623,273 - 163,645,149 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2163,623,272 - 163,645,131 (-)EnsemblGRCm38mm10GRCm38
MGSCv372163,449,009 - 163,470,879 (-)NCBIGRCm37mm9NCBIm37
MGSCv362163,314,714 - 163,336,572 (-)NCBImm8
Celera2169,566,643 - 169,588,507 (-)NCBICelera
Cytogenetic Map2H3NCBI
Serinc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23152,301,882 - 152,321,327 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl3152,301,772 - 152,321,808 (-)Ensembl
Rnor_6.03160,018,643 - 160,038,078 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3160,018,646 - 160,038,078 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03166,209,486 - 166,228,921 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43154,539,792 - 154,559,239 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13154,445,827 - 154,465,275 (-)NCBI
Celera3150,954,711 - 150,974,158 (-)NCBICelera
Cytogenetic Map3q42NCBI
Serinc3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544512,837,586 - 12,865,758 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544512,837,616 - 12,868,631 (+)NCBIChiLan1.0ChiLan1.0
SERINC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12041,920,415 - 41,946,287 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2041,921,639 - 41,946,287 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02040,827,299 - 40,852,028 (-)NCBIMhudiblu_PPA_v0panPan3
SERINC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12431,961,828 - 31,982,265 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2431,963,840 - 31,982,165 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2431,603,177 - 31,623,608 (-)NCBI
ROS_Cfam_1.02432,668,399 - 32,688,832 (-)NCBI
UMICH_Zoey_3.12431,930,951 - 31,951,387 (-)NCBI
UNSW_CanFamBas_1.02432,044,734 - 32,064,967 (-)NCBI
UU_Cfam_GSD_1.02432,586,146 - 32,606,584 (-)NCBI
Serinc3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640180,949,669 - 180,974,013 (-)NCBI
SpeTri2.0NW_0049365302,332,154 - 2,356,552 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SERINC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1746,895,401 - 46,924,792 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11746,904,841 - 46,924,842 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21752,390,339 - 52,399,297 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SERINC3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1219,299,852 - 19,325,448 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl219,299,828 - 19,321,466 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605067,968,566 - 67,994,595 (+)NCBIVero_WHO_p1.0
Serinc3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247909,951,067 - 9,983,251 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH70652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372043,128,754 - 43,128,874UniSTSGRCh37
Build 362042,562,168 - 42,562,288RGDNCBI36
Celera2039,837,401 - 39,837,521RGD
Cytogenetic Map20q13.12UniSTS
HuRef2039,870,227 - 39,870,347UniSTS
GeneMap99-GB4 RH Map20247.08UniSTS
NCBI RH Map20405.2UniSTS
RH16284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372043,127,871 - 43,128,060UniSTSGRCh37
Build 362042,561,285 - 42,561,474RGDNCBI36
Celera2039,836,518 - 39,836,707RGD
Cytogenetic Map20q13.12UniSTS
HuRef2039,869,344 - 39,869,533UniSTS
GeneMap99-GB4 RH Map20244.55UniSTS
STS-AA025063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372043,126,250 - 43,126,479UniSTSGRCh37
Build 362042,559,664 - 42,559,893RGDNCBI36
Celera2039,834,897 - 39,835,126RGD
Cytogenetic Map20q13.12UniSTS
HuRef2039,867,723 - 39,867,952UniSTS
GeneMap99-GB4 RH Map20247.08UniSTS
NCBI RH Map20405.2UniSTS
SHGC-32730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372043,127,868 - 43,127,993UniSTSGRCh37
Build 362042,561,282 - 42,561,407RGDNCBI36
Celera2039,836,515 - 39,836,640RGD
Cytogenetic Map20q13.12UniSTS
HuRef2039,869,341 - 39,869,466UniSTS
GeneMap99-GB4 RH Map20242.66UniSTS
Whitehead-RH Map20282.8UniSTS
NCBI RH Map20405.2UniSTS
GeneMap99-G3 RH Map202277.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1413
Count of miRNA genes:791
Interacting mature miRNAs:912
Transcripts:ENST00000255175, ENST00000342374, ENST00000411544, ENST00000468234, ENST00000541235
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 2439 2941 1723 621 1931 462 4357 2169 3727 418 1460 1613 175 1 1204 2788 6 2
Low 50 3 3 20 3 28 7 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA294859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA772607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF112227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF061792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI599912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU739133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX456085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA950523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB956722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN369494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA978982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC354189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000255175   ⟹   ENSP00000255175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2044,496,224 - 44,522,085 (-)Ensembl
RefSeq Acc Id: ENST00000342374   ⟹   ENSP00000340243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2044,497,441 - 44,522,070 (-)Ensembl
RefSeq Acc Id: ENST00000411544   ⟹   ENSP00000414197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2044,496,221 - 44,504,891 (-)Ensembl
RefSeq Acc Id: ENST00000468234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2044,513,893 - 44,522,054 (-)Ensembl
RefSeq Acc Id: NM_006811   ⟹   NP_006802
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382044,497,441 - 44,522,070 (-)NCBI
GRCh372043,124,864 - 43,150,726 (-)RGD
GRCh372043,124,864 - 43,150,726 (-)NCBI
Build 362042,561,315 - 42,584,140 (-)NCBI Archive
Celera2039,833,511 - 39,859,373 (-)RGD
HuRef2039,866,337 - 39,892,269 (-)RGD
CHM1_12043,029,189 - 43,053,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198941   ⟹   NP_945179
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382044,496,221 - 44,522,070 (-)NCBI
GRCh372043,124,864 - 43,150,726 (-)RGD
GRCh372043,124,864 - 43,150,726 (-)NCBI
Build 362042,558,278 - 42,584,140 (-)NCBI Archive
Celera2039,833,511 - 39,859,373 (-)RGD
HuRef2039,866,337 - 39,892,269 (-)RGD
CHM1_12043,027,970 - 43,053,883 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_945179   ⟸   NM_198941
- Peptide Label: precursor
- UniProtKB: Q13530 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006802   ⟸   NM_006811
- Peptide Label: precursor
- UniProtKB: Q13530 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000414197   ⟸   ENST00000411544
RefSeq Acc Id: ENSP00000255175   ⟸   ENST00000255175
RefSeq Acc Id: ENSP00000340243   ⟸   ENST00000342374

Promoters
RGD ID:6799050
Promoter ID:HG_KWN:39540
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_198941,   OTTHUMT00000080544,   OTTHUMT00000080546,   UC010GGS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362042,583,856 - 42,584,356 (-)MPROMDB
RGD ID:6851204
Promoter ID:EP73398
Type:initiation region
Name:HS_TDE1
Description:Tumor differentially expressed 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362042,584,072 - 42,584,132EPD
RGD ID:13207001
Promoter ID:EPDNEW_H27081
Type:initiation region
Name:SERINC3_1
Description:serine incorporator 3
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
GRCh382044,522,049 - 44,522,109EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006811.2(SERINC3):c.1346C>T (p.Ser449Phe) single nucleotide variant Malignant melanoma [RCV000063747] Chr20:44500372 [GRCh38]
Chr20:43129013 [GRCh37]
Chr20:42562427 [NCBI36]
Chr20:20q13.12
not provided
NM_006811.2(SERINC3):c.1014T>C (p.Phe338=) single nucleotide variant Malignant melanoma [RCV000063748] Chr20:44503856 [GRCh38]
Chr20:43132497 [GRCh37]
Chr20:42565911 [NCBI36]
Chr20:20q13.12
not provided
NM_006811.2(SERINC3):c.967C>T (p.Pro323Ser) single nucleotide variant Malignant melanoma [RCV000063749] Chr20:44503903 [GRCh38]
Chr20:43132544 [GRCh37]
Chr20:42565958 [NCBI36]
Chr20:20q13.12
not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12
pathogenic
GRCh37/hg19 20q13.12(chr20:43016840-43153243)x1 copy number loss See cases [RCV000446346] Chr20:43016840..43153243 [GRCh37]
Chr20:20q13.12
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20q13.12(chr20:42818852-43180449)x3 copy number gain not provided [RCV000584982] Chr20:42818852..43180449 [GRCh37]
Chr20:20q13.12
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
Single allele deletion Focal seizures [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11699 AgrOrtholog
COSMIC SERINC3 COSMIC
Ensembl Genes ENSG00000132824 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000255175 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000340243 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000414197 UniProtKB/TrEMBL
Ensembl Transcript ENST00000255175 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000342374 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000411544 UniProtKB/TrEMBL
GTEx ENSG00000132824 GTEx
HGNC ID HGNC:11699 ENTREZGENE
Human Proteome Map SERINC3 Human Proteome Map
InterPro Serinc1/3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TDE1/TMS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10955 UniProtKB/Swiss-Prot
NCBI Gene 10955 ENTREZGENE
OMIM 607165 OMIM
PANTHER PTHR10383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10383:SF51 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Serinc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36418 PharmGKB
UniProt L8E9G1_HUMAN UniProtKB/TrEMBL
  L8ECD5_HUMAN UniProtKB/TrEMBL
  Q13530 ENTREZGENE
  Q5H936_HUMAN UniProtKB/TrEMBL
  SERC3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DUE9 UniProtKB/Swiss-Prot
  O43717 UniProtKB/Swiss-Prot
  Q9BR33 UniProtKB/Swiss-Prot