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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DEGS1 | Human | Prostatic Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17013881 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DEGS1 | Human | Prostatic Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17013881 | |
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# | 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 |
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 |
DEGS1 (Homo sapiens - human) |
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Degs1 (Mus musculus - house mouse) |
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Degs1 (Rattus norvegicus - Norway rat) |
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Degs1 (Chinchilla lanigera - long-tailed chinchilla) |
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DEGS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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DEGS1 (Canis lupus familiaris - dog) |
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Degs1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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DEGS1 (Sus scrofa - pig) |
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DEGS1 (Chlorocebus sabaeus - green monkey) |
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Degs1 (Heterocephalus glaber - naked mole-rat) |
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Variants in DEGS1
71 total 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 |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH103430 |
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DEGS_8831 |
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RH67833 |
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SHGC-76416 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2435 | 2788 | 2248 | 4965 | 1725 | 2351 | 5 | 623 | 1950 | 465 | 2270 | 7292 | 6462 | 52 | 3728 | 1 | 850 | 1741 | 1616 | 175 | 1 |
RefSeq Transcripts | NM_001321541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001321542 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_003676 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017002648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB362580 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC092809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF002668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF466375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK308232 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AU126996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY423730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC000961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000323699 ⟹ ENSP00000316476 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000391877 ⟹ ENSP00000375749 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000415210 ⟹ ENSP00000400545 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000465848 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000498813 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001321541 ⟹ NP_001308470 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001321542 ⟹ NP_001308471 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_003676 ⟹ NP_003667 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017002648 ⟹ XP_016858137 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
Protein RefSeqs | NP_001308470 | (Get FASTA) | NCBI Sequence Viewer |
NP_001308471 | (Get FASTA) | NCBI Sequence Viewer | |
NP_003667 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016858137 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB62238 | (Get FASTA) | NCBI Sequence Viewer |
AAH00961 | (Get FASTA) | NCBI Sequence Viewer | |
AAM12531 | (Get FASTA) | NCBI Sequence Viewer | |
AAS00493 | (Get FASTA) | NCBI Sequence Viewer | |
BAF81544 | (Get FASTA) | NCBI Sequence Viewer | |
EAW69711 | (Get FASTA) | NCBI Sequence Viewer | |
EAW69712 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000316476 | ||
ENSP00000316476.4 | |||
ENSP00000400545.1 | |||
GenBank Protein | O15121 | (Get FASTA) | NCBI Sequence Viewer |
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O15121-F1-model_v2 | AlphaFold | O15121 | 1-323 | view protein structure |
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: |
|
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: |
|
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 |
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 |