DEGS1 (delta 4-desaturase, sphingolipid 1) - Rat Genome Database

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Gene: DEGS1 (delta 4-desaturase, sphingolipid 1) Homo sapiens
Analyze
Symbol: DEGS1
Name: delta 4-desaturase, sphingolipid 1
RGD ID: 1605117
HGNC Page HGNC:13709
Description: Enables retinol isomerase activity and sphingolipid delta-4 desaturase activity. Involved in myelin maintenance. Located in mitochondrion. Implicated in hypomyelinating leukodystrophy 18.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cell migration-inducing gene 15 protein; degenerative spermatocyte homolog 1, lipid desaturase; degenerative spermatocyte homolog, lipid desaturase; DEGS; DEGS-1; delta(4)-desaturase, sphingolipid 1; Des-1; DES1; dihydroceramide desaturase; dihydroceramide desaturase 1; FADS7; HLD18; membrane fatty acid (lipid) desaturase; membrane lipid desaturase; MGC5079; MIG15; migration-inducing gene 15 protein; MLD; retinol isomerase; sphingolipid delta 4 desaturase; sphingolipid delta(4)-desaturase 1; sphingolipid delta(4)-desaturase DES1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100131127  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381224,183,240 - 224,193,441 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1224,175,756 - 224,193,441 (+)EnsemblGRCh38hg38GRCh38
GRCh371224,370,942 - 224,381,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361222,437,551 - 222,447,766 (+)NCBINCBI36Build 36hg18NCBI36
Celera1197,561,861 - 197,572,073 (+)NCBICelera
Cytogenetic Map1q42.11NCBI
HuRef1194,891,445 - 194,901,670 (+)NCBIHuRef
CHM1_11225,643,571 - 225,653,792 (+)NCBICHM1_1
T2T-CHM13v2.01223,372,483 - 223,382,685 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9188692   PMID:11937514   PMID:12477932   PMID:16344560   PMID:17207965   PMID:17283068   PMID:17353931   PMID:20105137   PMID:21873635   PMID:21914808   PMID:21988832   PMID:22377532  
PMID:22628619   PMID:23143414   PMID:23267130   PMID:24875537   PMID:25959826   PMID:26186194   PMID:26494858   PMID:26638075   PMID:27364952   PMID:28514442   PMID:29180619   PMID:30365230  
PMID:30620337   PMID:30620338   PMID:31186544   PMID:31631013   PMID:32296183   PMID:32344865   PMID:33845483   PMID:33852856   PMID:33957083   PMID:33961781   PMID:34106748   PMID:35156780  
PMID:35271311   PMID:35439318   PMID:35696571   PMID:36165222   PMID:36184516   PMID:36215168   PMID:36951944   PMID:37071682   PMID:37827155   PMID:37890668   PMID:37931956   PMID:38342436  
PMID:38569033  


Genomics

Comparative Map Data
DEGS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381224,183,240 - 224,193,441 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1224,175,756 - 224,193,441 (+)EnsemblGRCh38hg38GRCh38
GRCh371224,370,942 - 224,381,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361222,437,551 - 222,447,766 (+)NCBINCBI36Build 36hg18NCBI36
Celera1197,561,861 - 197,572,073 (+)NCBICelera
Cytogenetic Map1q42.11NCBI
HuRef1194,891,445 - 194,901,670 (+)NCBIHuRef
CHM1_11225,643,571 - 225,653,792 (+)NCBICHM1_1
T2T-CHM13v2.01223,372,483 - 223,382,685 (+)NCBIT2T-CHM13v2.0
Degs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391182,103,529 - 182,110,366 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1182,103,337 - 182,110,369 (-)EnsemblGRCm39 Ensembl
GRCm381182,275,964 - 182,282,854 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1182,275,772 - 182,282,804 (-)EnsemblGRCm38mm10GRCm38
MGSCv371184,205,901 - 184,212,890 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361184,112,445 - 184,119,434 (-)NCBIMGSCv36mm8
Celera1189,318,025 - 189,324,947 (-)NCBICelera
Cytogenetic Map1H5NCBI
cM Map184.93NCBI
Degs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81396,478,645 - 96,485,302 (-)NCBIGRCr8
mRatBN7.21393,946,154 - 93,953,677 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1393,946,157 - 93,953,664 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1396,452,250 - 96,458,907 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01397,852,156 - 97,858,813 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01395,034,331 - 95,040,988 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.013100,665,265 - 100,672,731 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13100,666,075 - 100,672,731 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013105,599,106 - 105,606,572 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41398,242,981 - 98,249,638 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11398,431,962 - 98,438,556 (-)NCBI
Celera1393,480,467 - 93,487,120 (-)NCBICelera
Cytogenetic Map13q26NCBI
Degs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555201,135,563 - 1,143,192 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555201,139,568 - 1,143,149 (-)NCBIChiLan1.0ChiLan1.0
DEGS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2125,334,511 - 25,344,806 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1125,285,430 - 25,295,619 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01199,651,712 - 199,661,848 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11204,659,389 - 204,683,171 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1204,659,389 - 204,668,901 (+)Ensemblpanpan1.1panPan2
DEGS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1740,147,293 - 40,152,190 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl740,147,505 - 40,153,085 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha739,629,447 - 39,639,491 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0739,982,286 - 39,992,310 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl739,980,406 - 39,992,266 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1739,822,856 - 39,832,860 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0739,830,750 - 39,840,481 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0740,099,271 - 40,109,303 (-)NCBIUU_Cfam_GSD_1.0
Degs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934453,593,665 - 53,597,297 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365261,149,984 - 1,153,632 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DEGS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1012,557,767 - 12,568,978 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11012,529,021 - 12,568,447 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21014,976,597 - 15,053,245 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DEGS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1255,589,530 - 5,603,261 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl255,589,383 - 5,603,227 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660555,771,384 - 5,781,608 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Degs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248355,880,301 - 5,889,294 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248355,880,855 - 5,889,295 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DEGS1
71 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer) deletion Leukodystrophy, hypomyelinating, 18 [RCV001526451] Chr1:224192358..224192361 [GRCh38]
Chr1:224380060..224380063 [GRCh37]
Chr1:1q42.11
pathogenic|likely pathogenic
GRCh38/hg38 1q41-42.12(chr1:223882252-224902629)x1 copy number loss See cases [RCV000050819] Chr1:223882252..224902629 [GRCh38]
Chr1:224069954..225090331 [GRCh37]
Chr1:222136577..223156954 [NCBI36]
Chr1:1q41-42.12
uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 copy number loss See cases [RCV000052311] Chr1:224096288..227859548 [GRCh38]
Chr1:224283990..228047249 [GRCh37]
Chr1:222350613..226113872 [NCBI36]
Chr1:1q42.11-42.13
pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13
pathogenic
GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1 copy number loss See cases [RCV000135362] Chr1:223749425..224604271 [GRCh38]
Chr1:223937127..224791973 [GRCh37]
Chr1:222003750..222858596 [NCBI36]
Chr1:1q41-42.12
uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
NM_003676.4(DEGS1):c.604del (p.Tyr202fs) deletion Leukodystrophy, hypomyelinating, 18 [RCV000768572] Chr1:224190097 [GRCh38]
Chr1:224377799 [GRCh37]
Chr1:1q42.11
pathogenic
NM_003676.4(DEGS1):c.395A>G (p.His132Arg) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV000768569] Chr1:224189889 [GRCh38]
Chr1:224377591 [GRCh37]
Chr1:1q42.11
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q42.11-42.12(chr1:224340881-225147932) copy number loss not provided [RCV000767548] Chr1:224340881..225147932 [GRCh37]
Chr1:1q42.11-42.12
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
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 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
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 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.11(chr1:224346184-224409144)x1 copy number loss not provided [RCV000684705] Chr1:224346184..224409144 [GRCh37]
Chr1:1q42.11
likely pathogenic|uncertain significance
NM_003676.4(DEGS1):c.839C>T (p.Ala280Val) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV000768568] Chr1:224192345 [GRCh38]
Chr1:224380047 [GRCh37]
Chr1:1q42.11
pathogenic|likely pathogenic
NM_003676.4(DEGS1):c.341_342del (p.Leu114fs) deletion Leukodystrophy, hypomyelinating, 18 [RCV000768571] Chr1:224189835..224189836 [GRCh38]
Chr1:224377537..224377538 [GRCh37]
Chr1:1q42.11
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_003676.4(DEGS1):c.*144A>G single nucleotide variant not provided [RCV001609950] Chr1:224192622 [GRCh38]
Chr1:224380324 [GRCh37]
Chr1:1q42.11
benign
NM_003676.4(DEGS1):c.*54A>G single nucleotide variant not provided [RCV001612744] Chr1:224192532 [GRCh38]
Chr1:224380234 [GRCh37]
Chr1:1q42.11
benign
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2
pathogenic
NM_003676.4(DEGS1):c.110T>C (p.Met37Thr) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV000993673] Chr1:224189604 [GRCh38]
Chr1:224377306 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.878G>A (p.Trp293Ter) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV000993674] Chr1:224192384 [GRCh38]
Chr1:224380086 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.3:c.764A>G single nucleotide variant LEUKODYSTROPHY, HYPOMYELINATING, 18 [RCV000768570]   pathogenic
NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV000768573] Chr1:224189831 [GRCh38]
Chr1:224377533 [GRCh37]
Chr1:1q42.11
pathogenic|likely pathogenic
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV000768574] Chr1:224189814 [GRCh38]
Chr1:224377516 [GRCh37]
Chr1:1q42.11
pathogenic|likely pathogenic
NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser) single nucleotide variant Leukodystrophy [RCV000786045]|Leukodystrophy, hypomyelinating, 18 [RCV000768570]|not provided [RCV002061034] Chr1:224190258 [GRCh38]
Chr1:224377960 [GRCh37]
Chr1:1q42.11
pathogenic
NM_003676.4(DEGS1):c.524T>A (p.Leu175Gln) single nucleotide variant DEGS1-related disorder [RCV003958010]|not provided [RCV000894530] Chr1:224190018 [GRCh38]
Chr1:224377720 [GRCh37]
Chr1:1q42.11
benign
GRCh37/hg19 1q42.11(chr1:224333044-224384942)x1 copy number loss not provided [RCV000848774] Chr1:224333044..224384942 [GRCh37]
Chr1:1q42.11
uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV000993675] Chr1:224190011 [GRCh38]
Chr1:224377713 [GRCh37]
Chr1:1q42.11
pathogenic|likely pathogenic
NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV000993677] Chr1:224190059 [GRCh38]
Chr1:224377761 [GRCh37]
Chr1:1q42.11
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 copy number loss not provided [RCV001005178] Chr1:222641389..228137574 [GRCh37]
Chr1:1q41-42.13
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp) single nucleotide variant Inborn genetic diseases [RCV001266357]|Leukodystrophy, hypomyelinating, 18 [RCV000993676] Chr1:224189891 [GRCh38]
Chr1:224377593 [GRCh37]
Chr1:1q42.11
likely pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
NM_003676.4(DEGS1):c.518G>C (p.Arg173Pro) single nucleotide variant not provided [RCV003126337] Chr1:224190012 [GRCh38]
Chr1:224377714 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.356C>A (p.Pro119Gln) single nucleotide variant not provided [RCV003126348] Chr1:224189850 [GRCh38]
Chr1:224377552 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.825+211G>T single nucleotide variant not provided [RCV001690935] Chr1:224190530 [GRCh38]
Chr1:224378232 [GRCh37]
Chr1:1q42.11
benign
NM_003676.4(DEGS1):c.193G>A (p.Asp65Asn) single nucleotide variant not provided [RCV000908711] Chr1:224189687 [GRCh38]
Chr1:224377389 [GRCh37]
Chr1:1q42.11
benign
NM_003676.4(DEGS1):c.800A>G (p.Asn267Ser) single nucleotide variant DEGS1-related disorder [RCV003926014]|not provided [RCV000954853] Chr1:224190294 [GRCh38]
Chr1:224377996 [GRCh37]
Chr1:1q42.11
benign
NC_000001.11:g.224183111C>T single nucleotide variant not provided [RCV001694244] Chr1:224183111 [GRCh38]
Chr1:224370813 [GRCh37]
Chr1:1q42.11
benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1 copy number loss not provided [RCV001259110] Chr1:222605125..224696628 [GRCh37]
Chr1:1q41-42.12
pathogenic
NM_003676.4(DEGS1):c.752dup (p.Leu251fs) duplication Inborn genetic diseases [RCV001266358] Chr1:224190243..224190244 [GRCh38]
Chr1:224377945..224377946 [GRCh37]
Chr1:1q42.11
likely pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_003676.4(DEGS1):c.708C>G (p.Phe236Leu) single nucleotide variant not provided [RCV001345490] Chr1:224190202 [GRCh38]
Chr1:224377904 [GRCh37]
Chr1:1q42.11
uncertain significance
GRCh37/hg19 1q41-42.12(chr1:223552998-224761890) copy number loss Global developmental delay [RCV001291986] Chr1:223552998..224761890 [GRCh37]
Chr1:1q41-42.12
pathogenic
NM_003676.4(DEGS1):c.27C>A (p.Asp9Glu) single nucleotide variant DEGS1-related disorder [RCV003921066]|Inborn genetic diseases [RCV002564303]|not provided [RCV001509699] Chr1:224183363 [GRCh38]
Chr1:224371065 [GRCh37]
Chr1:1q42.11
benign|likely benign
NM_003676.4(DEGS1):c.528C>T (p.Phe176=) single nucleotide variant not provided [RCV001517199] Chr1:224190022 [GRCh38]
Chr1:224377724 [GRCh37]
Chr1:1q42.11
benign
NC_000001.10:g.(?_224380014)_(224380180_?)dup duplication not provided [RCV001987579] Chr1:224380014..224380180 [GRCh37]
Chr1:1q42.11
uncertain significance
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) copy number gain not specified [RCV002052845] Chr1:221303919..227461343 [GRCh37]
Chr1:1q41-42.13
pathogenic
NM_003676.4(DEGS1):c.181G>A (p.Val61Ile) single nucleotide variant not provided [RCV002041491] Chr1:224189675 [GRCh38]
Chr1:224377377 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.82+6G>A single nucleotide variant not provided [RCV002022304] Chr1:224183424 [GRCh38]
Chr1:224371126 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.548C>T (p.Thr183Met) single nucleotide variant Inborn genetic diseases [RCV004043708]|not provided [RCV001992500] Chr1:224190042 [GRCh38]
Chr1:224377744 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV002046912] Chr1:224183339 [GRCh38]
Chr1:224371041 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.809G>C (p.Gly270Ala) single nucleotide variant Inborn genetic diseases [RCV002573418]|not provided [RCV001973720] Chr1:224190303 [GRCh38]
Chr1:224378005 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.950A>C (p.Lys317Thr) single nucleotide variant Inborn genetic diseases [RCV004611903]|not provided [RCV001870280] Chr1:224192456 [GRCh38]
Chr1:224380158 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.617T>C (p.Ile206Thr) single nucleotide variant Inborn genetic diseases [RCV002592554]|not provided [RCV002030658] Chr1:224190111 [GRCh38]
Chr1:224377813 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.252dup (p.Thr85fs) duplication not provided [RCV001972692] Chr1:224189745..224189746 [GRCh38]
Chr1:224377447..224377448 [GRCh37]
Chr1:1q42.11
pathogenic
NM_003676.4(DEGS1):c.99A>G (p.Ile33Met) single nucleotide variant DEGS1-related disorder [RCV004758857]|not provided [RCV002034411] Chr1:224189593 [GRCh38]
Chr1:224377295 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.82+1G>C single nucleotide variant not provided [RCV002029179] Chr1:224183419 [GRCh38]
Chr1:224371121 [GRCh37]
Chr1:1q42.11
likely pathogenic
NM_003676.4(DEGS1):c.634A>G (p.Met212Val) single nucleotide variant not provided [RCV002018225] Chr1:224190128 [GRCh38]
Chr1:224377830 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.582C>G (p.Val194=) single nucleotide variant DEGS1-related disorder [RCV004731239]|not provided [RCV002132076] Chr1:224190076 [GRCh38]
Chr1:224377778 [GRCh37]
Chr1:1q42.11
benign|likely benign
NM_003676.4(DEGS1):c.418G>A (p.Val140Ile) single nucleotide variant not provided [RCV002116765] Chr1:224189912 [GRCh38]
Chr1:224377614 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.570C>T (p.Thr190=) single nucleotide variant not provided [RCV002199092] Chr1:224190064 [GRCh38]
Chr1:224377766 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.60C>T (p.Ala20=) single nucleotide variant not provided [RCV002182912] Chr1:224183396 [GRCh38]
Chr1:224371098 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.759C>A (p.Thr253=) single nucleotide variant not provided [RCV002123690] Chr1:224190253 [GRCh38]
Chr1:224377955 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.573G>A (p.Val191=) single nucleotide variant not provided [RCV002160350] Chr1:224190067 [GRCh38]
Chr1:224377769 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.183A>C (p.Val61=) single nucleotide variant not provided [RCV003121723] Chr1:224189677 [GRCh38]
Chr1:224377379 [GRCh37]
Chr1:1q42.11
likely benign
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1 copy number loss not provided [RCV002474859] Chr1:221325488..225804228 [GRCh37]
Chr1:1q41-42.12
uncertain significance
NM_003676.4(DEGS1):c.890T>C (p.Leu297Pro) single nucleotide variant not provided [RCV002467151] Chr1:224192396 [GRCh38]
Chr1:224380098 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.364A>G (p.Ile122Val) single nucleotide variant Inborn genetic diseases [RCV003067167]|not provided [RCV003074592] Chr1:224189858 [GRCh38]
Chr1:224377560 [GRCh37]
Chr1:1q42.11
likely benign|uncertain significance
NM_003676.4(DEGS1):c.398G>A (p.Arg133Gln) single nucleotide variant not provided [RCV002731459] Chr1:224189892 [GRCh38]
Chr1:224377594 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.757A>G (p.Thr253Ala) single nucleotide variant Inborn genetic diseases [RCV002793752] Chr1:224190251 [GRCh38]
Chr1:224377953 [GRCh37]
Chr1:1q42.11
uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association
NM_003676.4(DEGS1):c.135G>C (p.Trp45Cys) single nucleotide variant Inborn genetic diseases [RCV002757421] Chr1:224189629 [GRCh38]
Chr1:224377331 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.420C>T (p.Val140=) single nucleotide variant not provided [RCV002569480] Chr1:224189914 [GRCh38]
Chr1:224377616 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.61G>C (p.Asp21His) single nucleotide variant not provided [RCV003035301] Chr1:224183397 [GRCh38]
Chr1:224371099 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.241A>G (p.Asn81Asp) single nucleotide variant not provided [RCV002574025] Chr1:224189735 [GRCh38]
Chr1:224377437 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.306A>C (p.Ala102=) single nucleotide variant not provided [RCV002593741] Chr1:224189800 [GRCh38]
Chr1:224377502 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.500C>G (p.Pro167Arg) single nucleotide variant Inborn genetic diseases [RCV002873669] Chr1:224189994 [GRCh38]
Chr1:224377696 [GRCh37]
Chr1:1q42.11
uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43
not provided
NM_003676.4(DEGS1):c.569C>T (p.Thr190Ile) single nucleotide variant Inborn genetic diseases [RCV002812215] Chr1:224190063 [GRCh38]
Chr1:224377765 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.507T>C (p.Phe169=) single nucleotide variant not provided [RCV002720669] Chr1:224190001 [GRCh38]
Chr1:224377703 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.250A>T (p.Met84Leu) single nucleotide variant Inborn genetic diseases [RCV002832489] Chr1:224189744 [GRCh38]
Chr1:224377446 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.49C>T (p.Gln17Ter) single nucleotide variant not provided [RCV002715145] Chr1:224183385 [GRCh38]
Chr1:224371087 [GRCh37]
Chr1:1q42.11
pathogenic
NM_003676.4(DEGS1):c.169G>A (p.Ala57Thr) single nucleotide variant not provided [RCV002582281] Chr1:224189663 [GRCh38]
Chr1:224377365 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.291T>C (p.Phe97=) single nucleotide variant not provided [RCV003073251] Chr1:224189785 [GRCh38]
Chr1:224377487 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.826-1G>A single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV003228874] Chr1:224192331 [GRCh38]
Chr1:224380033 [GRCh37]
Chr1:1q42.11
likely pathogenic
NM_003676.4(DEGS1):c.2T>C (p.Met1Thr) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV003340682] Chr1:224183338 [GRCh38]
Chr1:224371040 [GRCh37]
Chr1:1q42.11
likely pathogenic
NM_003676.4(DEGS1):c.64C>G (p.Arg22Gly) single nucleotide variant not provided [RCV003334114] Chr1:224183400 [GRCh38]
Chr1:224371102 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.192G>T (p.Leu64Phe) single nucleotide variant Inborn genetic diseases [RCV003377078] Chr1:224189686 [GRCh38]
Chr1:224377388 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.237C>T (p.Cys79=) single nucleotide variant not provided [RCV003690135] Chr1:224189731 [GRCh38]
Chr1:224377433 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.22G>T (p.Glu8Ter) single nucleotide variant not provided [RCV003553862] Chr1:224183358 [GRCh38]
Chr1:224371060 [GRCh37]
Chr1:1q42.11
pathogenic
NM_003676.4(DEGS1):c.183A>G (p.Val61=) single nucleotide variant not provided [RCV003674867] Chr1:224189677 [GRCh38]
Chr1:224377379 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.383A>T (p.His128Leu) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV003989431] Chr1:224189877 [GRCh38]
Chr1:224377579 [GRCh37]
Chr1:1q42.11
uncertain significance
GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1 copy number loss not provided [RCV004442774] Chr1:216147522..226765691 [GRCh37]
Chr1:1q41-42.12
pathogenic
NM_003676.4(DEGS1):c.355C>T (p.Pro119Ser) single nucleotide variant Inborn genetic diseases [RCV004368258] Chr1:224189849 [GRCh38]
Chr1:224377551 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.251T>C (p.Met84Thr) single nucleotide variant Inborn genetic diseases [RCV004368257] Chr1:224189745 [GRCh38]
Chr1:224377447 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.775C>T (p.His259Tyr) single nucleotide variant Leukodystrophy, hypomyelinating, 18 [RCV003985190] Chr1:224190269 [GRCh38]
Chr1:224377971 [GRCh37]
Chr1:1q42.11
likely pathogenic
NM_003676.4(DEGS1):c.158C>T (p.Thr53Ile) single nucleotide variant Inborn genetic diseases [RCV004368256] Chr1:224189652 [GRCh38]
Chr1:224377354 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.886G>C (p.Val296Leu) single nucleotide variant DEGS1-related disorder [RCV003968959] Chr1:224192392 [GRCh38]
Chr1:224380094 [GRCh37]
Chr1:1q42.11
likely benign
NM_003676.4(DEGS1):c.101A>G (p.Lys34Arg) single nucleotide variant Inborn genetic diseases [RCV004613791] Chr1:224189595 [GRCh38]
Chr1:224377297 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.119A>T (p.Asp40Val) single nucleotide variant Inborn genetic diseases [RCV004613794] Chr1:224189613 [GRCh38]
Chr1:224377315 [GRCh37]
Chr1:1q42.11
uncertain significance
NM_003676.4(DEGS1):c.841G>T (p.Ala281Ser) single nucleotide variant Inborn genetic diseases [RCV004613792] Chr1:224192347 [GRCh38]
Chr1:224380049 [GRCh37]
Chr1:1q42.11
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1054
Count of miRNA genes:567
Interacting mature miRNAs:618
Transcripts:ENST00000323699, ENST00000391877, ENST00000415210, ENST00000465848, ENST00000498813
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597133366GWAS1229440_Hbone density QTL GWAS1229440 (human)2e-13bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1224190294224190295Human
597275467GWAS1371541_Hpalmitoyl dihydrosphingomyelin (d18:0/16:0) measurement QTL GWAS1371541 (human)3e-14palmitoyl dihydrosphingomyelin (d18:0/16:0) measurement1224189697224189698Human

Markers in Region
RH103430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,377,573 - 224,377,741UniSTSGRCh37
Build 361222,444,196 - 222,444,364RGDNCBI36
Celera1197,568,503 - 197,568,671RGD
Cytogenetic Map1q42.11UniSTS
HuRef1194,898,101 - 194,898,269UniSTS
GeneMap99-GB4 RH Map1715.31UniSTS
DEGS_8831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,380,382 - 224,381,176UniSTSGRCh37
Build 361222,447,005 - 222,447,799RGDNCBI36
Celera1197,571,312 - 197,572,106RGD
HuRef1194,900,909 - 194,901,703UniSTS
RH67833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,380,971 - 224,381,091UniSTSGRCh37
Build 361222,447,594 - 222,447,714RGDNCBI36
Celera1197,571,901 - 197,572,021RGD
Cytogenetic Map1q42.11UniSTS
HuRef1194,901,498 - 194,901,618UniSTS
GeneMap99-GB4 RH Map1715.41UniSTS
SHGC-76416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,380,913 - 224,381,105UniSTSGRCh37
Build 361222,447,536 - 222,447,728RGDNCBI36
Celera1197,571,843 - 197,572,035RGD
Cytogenetic Map1q42.11UniSTS
HuRef1194,901,440 - 194,901,632UniSTS
TNG Radiation Hybrid Map1111662.0UniSTS
GeneMap99-GB4 RH Map1715.51UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2248 4965 1725 2351 5 623 1950 465 2270 7292 6462 52 3728 1 850 1741 1616 175 1

Sequence


Ensembl Acc Id: ENST00000323699   ⟹   ENSP00000316476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,183,240 - 224,193,441 (+)Ensembl
Ensembl Acc Id: ENST00000391877   ⟹   ENSP00000375749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,183,266 - 224,193,157 (+)Ensembl
Ensembl Acc Id: ENST00000415210   ⟹   ENSP00000400545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,175,756 - 224,192,353 (+)Ensembl
Ensembl Acc Id: ENST00000465848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,183,675 - 224,190,052 (+)Ensembl
Ensembl Acc Id: ENST00000498813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,190,136 - 224,192,440 (+)Ensembl
RefSeq Acc Id: NM_001321541   ⟹   NP_001308470
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,183,240 - 224,193,441 (+)NCBI
CHM1_11225,643,571 - 225,653,792 (+)NCBI
T2T-CHM13v2.01223,372,483 - 223,382,685 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321542   ⟹   NP_001308471
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,183,680 - 224,193,441 (+)NCBI
CHM1_11225,643,874 - 225,653,792 (+)NCBI
T2T-CHM13v2.01223,372,923 - 223,382,685 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003676   ⟹   NP_003667
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,183,240 - 224,193,441 (+)NCBI
GRCh371224,370,910 - 224,381,143 (+)NCBI
Build 361222,437,551 - 222,447,766 (+)NCBI Archive
Celera1197,561,861 - 197,572,073 (+)RGD
HuRef1194,891,445 - 194,901,670 (+)NCBI
CHM1_11225,643,571 - 225,653,792 (+)NCBI
T2T-CHM13v2.01223,372,483 - 223,382,685 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002648   ⟹   XP_016858137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381224,183,680 - 224,193,441 (+)NCBI
Sequence:
RefSeq Acc Id: NP_003667   ⟸   NM_003676
- Peptide Label: isoform 1
- UniProtKB: O15121 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308470   ⟸   NM_001321541
- Peptide Label: isoform 2
- UniProtKB: E7EMA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308471   ⟸   NM_001321542
- Peptide Label: isoform 3
- UniProtKB: E7EMA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858137   ⟸   XM_017002648
- Peptide Label: isoform X1
- UniProtKB: E7EMA0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000400545   ⟸   ENST00000415210
Ensembl Acc Id: ENSP00000316476   ⟸   ENST00000323699
Ensembl Acc Id: ENSP00000375749   ⟸   ENST00000391877
Protein Domains
Fatty acid desaturase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15121-F1-model_v2 AlphaFold O15121 1-323 view protein structure

Promoters
RGD ID:6785282
Promoter ID:HG_KWN:7515
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:ENST00000391877,   OTTHUMT00000091285,   OTTHUMT00000091436
Position:
Human AssemblyChrPosition (strand)Source
Build 361222,436,746 - 222,437,827 (+)MPROMDB
RGD ID:6859088
Promoter ID:EPDNEW_H2708
Type:initiation region
Name:DEGS1_1
Description:delta 4-desaturase, sphingolipid 1
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
GRCh381224,183,240 - 224,183,300EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13709 AgrOrtholog
COSMIC DEGS1 COSMIC
Ensembl Genes ENSG00000143753 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000323699 ENTREZGENE
  ENST00000323699.9 UniProtKB/Swiss-Prot
  ENST00000415210.5 UniProtKB/TrEMBL
GTEx ENSG00000143753 GTEx
HGNC ID HGNC:13709 ENTREZGENE
Human Proteome Map DEGS1 Human Proteome Map
InterPro DES1/DES2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FA_desaturase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sphingolipid_d4-desaturase_N UniProtKB/Swiss-Prot
KEGG Report hsa:8560 UniProtKB/Swiss-Prot
NCBI Gene 8560 ENTREZGENE
OMIM 615843 OMIM
PANTHER PTHR12879:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPHINGOLIPID DELTA 4 DESATURASE/C-4 HYDROXYLASE PROTEIN DES2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FA_desaturase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipid_DES UniProtKB/Swiss-Prot
PharmGKB PA27250 PharmGKB
PIRSF Sphnglp_dlt4_des UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Lipid_DES UniProtKB/Swiss-Prot
UniProt DEGS1_HUMAN UniProtKB/Swiss-Prot
  E7EMA0 ENTREZGENE, UniProtKB/TrEMBL
  O15121 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 DEGS1  delta 4-desaturase, sphingolipid 1  DEGS1  delta(4)-desaturase, sphingolipid 1  Symbol and/or name change 5135510 APPROVED
2011-12-13 DEGS1  delta(4)-desaturase, sphingolipid 1  DEGS1  degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)  Symbol and/or name change 5135510 APPROVED