![]()
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NDEL1 | Human | juvenile rheumatoid arthritis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19565504 | |
|
![]()
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NDEL1 | Human | juvenile rheumatoid arthritis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19565504 | |
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs. | Lipska BK, etal., Hum Mol Genet. 2006 Apr 15;15(8):1245-58. Epub 2006 Mar 1. |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8619474 | PMID:9110174 | PMID:10737800 | PMID:10931877 | PMID:11163258 | PMID:11163259 | PMID:11163260 | PMID:12477932 | PMID:12506198 | PMID:12556484 | PMID:12621583 | PMID:12796778 |
PMID:12812986 | PMID:12885786 | PMID:14702039 | PMID:14962739 | PMID:14970193 | PMID:15342556 | PMID:15489334 | PMID:15572112 | PMID:15728732 | PMID:16005531 | PMID:16189514 | PMID:16203747 |
PMID:16291865 | PMID:16344560 | PMID:16682949 | PMID:17035248 | PMID:17043677 | PMID:17060449 | PMID:17207965 | PMID:17494871 | PMID:17600710 | PMID:17997972 | PMID:18347064 | PMID:18400883 |
PMID:18421979 | PMID:18469341 | PMID:18784752 | PMID:18845247 | PMID:19198602 | PMID:19251251 | PMID:19492042 | PMID:19622634 | PMID:19632097 | PMID:19927128 | PMID:20048338 | PMID:20084519 |
PMID:20168084 | PMID:20360068 | PMID:20462516 | PMID:20880836 | PMID:20936779 | PMID:21036906 | PMID:21092859 | PMID:21283621 | PMID:21832049 | PMID:21873635 | PMID:21948775 | PMID:21998303 |
PMID:22114287 | PMID:22159412 | PMID:22373868 | PMID:22430153 | PMID:22453242 | PMID:22832604 | PMID:22843697 | PMID:23388542 | PMID:24722188 | PMID:24785679 | PMID:25416956 | PMID:25910212 |
PMID:26186194 | PMID:26476704 | PMID:26496610 | PMID:26638075 | PMID:26851141 | PMID:26972000 | PMID:27173435 | PMID:27371763 | PMID:27432908 | PMID:27546710 | PMID:27777970 | PMID:28514442 |
PMID:29103808 | PMID:29121065 | PMID:29892012 | PMID:29961565 | PMID:30217970 | PMID:30321766 | PMID:31343991 | PMID:31413325 | PMID:31515488 | PMID:31815665 | PMID:32296183 | PMID:32707033 |
PMID:32814053 | PMID:32838362 | PMID:33187986 | PMID:33961781 | PMID:34079125 | PMID:35182466 | PMID:35271311 | PMID:36192543 | PMID:36215168 | PMID:36858606 | PMID:37086789 | PMID:37499664 |
PMID:38194050 |
NDEL1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ndel1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ndel1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ndel1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NDEL1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NDEL1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ndel1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NDEL1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NDEL1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ndel1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in NDEL1
14 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17p13.1(chr17:7750804-10112969)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|See cases [RCV000052460] | Chr17:7750804..10112969 [GRCh38] Chr17:7654122..10016286 [GRCh37] Chr17:7594847..9957011 [NCBI36] Chr17:17p13.1 |
pathogenic |
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] | Chr17:6307904..8842949 [GRCh38] Chr17:6211224..8746266 [GRCh37] Chr17:6151948..8686991 [NCBI36] Chr17:17p13.2-13.1 |
pathogenic |
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 | copy number gain | See cases [RCV000134851] | Chr17:5732953..12095349 [GRCh38] Chr17:5636273..11998666 [GRCh37] Chr17:5576997..11939391 [NCBI36] Chr17:17p13.2-12 |
pathogenic |
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 | copy number gain | See cases [RCV000138531] | Chr17:162016..12343901 [GRCh38] Chr17:45835..12247218 [GRCh37] Chr17:11807..12187943 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3 | copy number gain | See cases [RCV000141063] | Chr17:7967712..8490279 [GRCh38] Chr17:7871030..8393597 [GRCh37] Chr17:7811755..8334322 [NCBI36] Chr17:17p13.1 |
uncertain significance |
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 | copy number gain | See cases [RCV000142236] | Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 | copy number loss | See cases [RCV000445992] | Chr17:7241916..8692213 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7929776-9995862)x3 | copy number gain | See cases [RCV000447853] | Chr17:7929776..9995862 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 | copy number gain | See cases [RCV000511388] | Chr17:7431013..9868179 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 | copy number gain | See cases [RCV000511786] | Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
NM_030808.5(NDEL1):c.695C>T (p.Pro232Leu) | single nucleotide variant | not specified [RCV004289780] | Chr17:8450948 [GRCh38] Chr17:8354266 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 | copy number gain | not provided [RCV000683866] | Chr17:525..11186432 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:8219814-8676240)x3 | copy number gain | not provided [RCV000683885] | Chr17:8219814..8676240 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3 | copy number gain | not provided [RCV000848522] | Chr17:7676383..8350870 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_030808.5(NDEL1):c.985C>A (p.Leu329Met) | single nucleotide variant | not specified [RCV004321791] | Chr17:8466970 [GRCh38] Chr17:8370288 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7929776-9995862) | copy number gain | not specified [RCV002052588] | Chr17:7929776..9995862 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7241916-8692213) | copy number loss | not specified [RCV002052586] | Chr17:7241916..8692213 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 | copy number loss | See cases [RCV000053426] | Chr17:7478195..8435524 [GRCh38] Chr17:7381514..8338842 [GRCh37] Chr17:7322238..8279567 [NCBI36] Chr17:17p13.1 |
pathogenic |
NM_030808.5(NDEL1):c.868A>T (p.Asn290Tyr) | single nucleotide variant | not specified [RCV004210423] | Chr17:8460084 [GRCh38] Chr17:8363402 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_030808.5(NDEL1):c.571A>G (p.Thr191Ala) | single nucleotide variant | not specified [RCV004218846] | Chr17:8450824 [GRCh38] Chr17:8354142 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_030808.5(NDEL1):c.940A>C (p.Lys314Gln) | single nucleotide variant | not specified [RCV004223284] | Chr17:8460156 [GRCh38] Chr17:8363474 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_030808.5(NDEL1):c.397A>G (p.Ile133Val) | single nucleotide variant | not specified [RCV004074029] | Chr17:8448557 [GRCh38] Chr17:8351875 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 | copy number gain | Chromosome 17p13.3 duplication syndrome [RCV003327726] | Chr17:165730..11404096 [GRCh38] Chr17:17p13.3-12 |
pathogenic |
NM_030808.5(NDEL1):c.914G>A (p.Arg305Gln) | single nucleotide variant | not specified [RCV004337772] | Chr17:8460130 [GRCh38] Chr17:8363448 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_030808.5(NDEL1):c.997C>T (p.Arg333Cys) | single nucleotide variant | not specified [RCV004340502] | Chr17:8466982 [GRCh38] Chr17:8370300 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 | copy number gain | not specified [RCV003987215] | Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2 |
pathogenic |
NM_030808.5(NDEL1):c.896A>G (p.Asn299Ser) | single nucleotide variant | not specified [RCV004477138] | Chr17:8460112 [GRCh38] Chr17:8363430 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_030808.5(NDEL1):c.1013C>T (p.Pro338Leu) | single nucleotide variant | not specified [RCV004477122] | Chr17:8466998 [GRCh38] Chr17:8370316 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_030808.5(NDEL1):c.20C>T (p.Pro7Leu) | single nucleotide variant | not specified [RCV004654595] | Chr17:8444291 [GRCh38] Chr17:8347609 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_030808.5(NDEL1):c.995C>T (p.Ser332Leu) | single nucleotide variant | not specified [RCV004641374] | Chr17:8466980 [GRCh38] Chr17:8370298 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_030808.5(NDEL1):c.1004C>T (p.Ser335Leu) | single nucleotide variant | not specified [RCV004641375] | Chr17:8466989 [GRCh38] Chr17:8370307 [GRCh37] Chr17:17p13.1 |
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 |
SHGC-53475 |
|
||||||||||||||||||||||||||||||||||||||||
D17S1452E |
|
||||||||||||||||||||||||||||||||||||||||
NDEL1_8103 |
|
||||||||||||||||||||||||||||||||||||||||
STS-N53016 |
|
||||||||||||||||||||||||||||||||||||||||
RH45856 |
|
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 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 5 | 624 | 1951 | 465 | 2270 | 7304 | 6470 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_029963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001025579 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001330129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_030808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025183 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025187 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017025188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047436860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047436861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317446 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054317450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA232258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AA425741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC026130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF038203 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF182078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF217798 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI742227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK056014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK095179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK123802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK128514 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL832648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW795298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AX405713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY004871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC026101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP201698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CX166766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA256375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB176966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DN993952 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
R94775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000334527 ⟹ ENSP00000333982 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000380025 ⟹ ENSP00000369364 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000402554 ⟹ ENSP00000384963 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000578172 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000579150 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000579880 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000580012 ⟹ ENSP00000463351 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000580237 ⟹ ENSP00000464154 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000580738 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000581189 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000581679 ⟹ ENSP00000464634 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000582277 ⟹ ENSP00000464441 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000582490 ⟹ ENSP00000462759 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000582665 ⟹ ENSP00000463430 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000582812 ⟹ ENSP00000462052 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000583066 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000583683 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000584866 ⟹ ENSP00000462458 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000585098 ⟹ ENSP00000463492 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001025579 ⟹ NP_001020750 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001330129 ⟹ NP_001317058 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_030808 ⟹ NP_110435 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017025183 ⟹ XP_016880672 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017025184 ⟹ XP_016880673 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017025186 ⟹ XP_016880675 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017025188 ⟹ XP_016880677 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047436860 ⟹ XP_047292816 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047436861 ⟹ XP_047292817 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317445 ⟹ XP_054173420 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317446 ⟹ XP_054173421 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317447 ⟹ XP_054173422 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317448 ⟹ XP_054173423 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317449 ⟹ XP_054173424 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317450 ⟹ XP_054173425 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001020750 | (Get FASTA) | NCBI Sequence Viewer |
NP_001317058 | (Get FASTA) | NCBI Sequence Viewer | |
NP_110435 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016880672 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016880673 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016880675 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016880677 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047292816 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047292817 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173420 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173421 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173422 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173423 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173424 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054173425 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAF24516 | (Get FASTA) | NCBI Sequence Viewer |
AAF97497 | (Get FASTA) | NCBI Sequence Viewer | |
AAG43425 | (Get FASTA) | NCBI Sequence Viewer | |
AAH26101 | (Get FASTA) | NCBI Sequence Viewer | |
BAG51605 | (Get FASTA) | NCBI Sequence Viewer | |
BAG61503 | (Get FASTA) | NCBI Sequence Viewer | |
CAD34820 | (Get FASTA) | NCBI Sequence Viewer | |
CAD89957 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90051 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90052 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000333982 | ||
ENSP00000333982.7 | |||
ENSP00000369364 | |||
ENSP00000369364.4 | |||
ENSP00000384963 | |||
ENSP00000384963.3 | |||
ENSP00000462052.1 | |||
ENSP00000462458.1 | |||
ENSP00000462759.1 | |||
ENSP00000463351.1 | |||
ENSP00000463430.1 | |||
ENSP00000463492.1 | |||
ENSP00000464154.1 | |||
ENSP00000464441.1 | |||
ENSP00000464634.1 | |||
GenBank Protein | Q9GZM8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001020750 ⟸ NM_001025579 |
- Peptide Label: | isoform A |
- UniProtKB: | Q9GZM8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_110435 ⟸ NM_030808 |
- Peptide Label: | isoform B |
- UniProtKB: | Q9GZM8 (UniProtKB/Swiss-Prot), Q8TAR7 (UniProtKB/Swiss-Prot), Q86T80 (UniProtKB/Swiss-Prot), J3QT32 (UniProtKB/Swiss-Prot), D3DTS0 (UniProtKB/Swiss-Prot), B3KP93 (UniProtKB/Swiss-Prot), Q9UH50 (UniProtKB/Swiss-Prot), B4DS41 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016880672 ⟸ XM_017025183 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DS41 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016880675 ⟸ XM_017025186 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_016880673 ⟸ XM_017025184 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DS41 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016880677 ⟸ XM_017025188 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | NP_001317058 ⟸ NM_001330129 |
- Peptide Label: | isoform C |
- UniProtKB: | A6NIZ0 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000463351 ⟸ ENST00000580012 |
Ensembl Acc Id: | ENSP00000464154 ⟸ ENST00000580237 |
Ensembl Acc Id: | ENSP00000464634 ⟸ ENST00000581679 |
Ensembl Acc Id: | ENSP00000464441 ⟸ ENST00000582277 |
Ensembl Acc Id: | ENSP00000463430 ⟸ ENST00000582665 |
Ensembl Acc Id: | ENSP00000462759 ⟸ ENST00000582490 |
Ensembl Acc Id: | ENSP00000462052 ⟸ ENST00000582812 |
Ensembl Acc Id: | ENSP00000462458 ⟸ ENST00000584866 |
Ensembl Acc Id: | ENSP00000333982 ⟸ ENST00000334527 |
Ensembl Acc Id: | ENSP00000463492 ⟸ ENST00000585098 |
Ensembl Acc Id: | ENSP00000384963 ⟸ ENST00000402554 |
Ensembl Acc Id: | ENSP00000369364 ⟸ ENST00000380025 |
RefSeq Acc Id: | XP_047292817 ⟸ XM_047436861 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q9GZM8 (UniProtKB/Swiss-Prot), Q8TAR7 (UniProtKB/Swiss-Prot), Q86T80 (UniProtKB/Swiss-Prot), J3QT32 (UniProtKB/Swiss-Prot), D3DTS0 (UniProtKB/Swiss-Prot), B3KP93 (UniProtKB/Swiss-Prot), Q9UH50 (UniProtKB/Swiss-Prot), B4DS41 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047292816 ⟸ XM_047436860 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DS41 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054173423 ⟸ XM_054317448 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q9GZM8 (UniProtKB/Swiss-Prot), Q8TAR7 (UniProtKB/Swiss-Prot), Q86T80 (UniProtKB/Swiss-Prot), J3QT32 (UniProtKB/Swiss-Prot), D3DTS0 (UniProtKB/Swiss-Prot), B3KP93 (UniProtKB/Swiss-Prot), Q9UH50 (UniProtKB/Swiss-Prot), B4DS41 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054173420 ⟸ XM_054317445 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DS41 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054173424 ⟸ XM_054317449 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054173421 ⟸ XM_054317446 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DS41 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054173425 ⟸ XM_054317450 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054173422 ⟸ XM_054317447 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DS41 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9GZM8-F1-model_v2 | AlphaFold | Q9GZM8 | 1-345 | view protein structure |
RGD ID: | 6794371 | ||||||||
Promoter ID: | HG_KWN:24966 | ||||||||
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: | ENST00000299734, NM_001025579, OTTHUMT00000226999 | ||||||||
Position: |
|
RGD ID: | 7233949 | ||||||||
Promoter ID: | EPDNEW_H22721 | ||||||||
Type: | initiation region | ||||||||
Name: | NDEL1_2 | ||||||||
Description: | nudE neurodevelopment protein 1 like 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22722 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7233951 | ||||||||
Promoter ID: | EPDNEW_H22722 | ||||||||
Type: | initiation region | ||||||||
Name: | NDEL1_1 | ||||||||
Description: | nudE neurodevelopment protein 1 like 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22721 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:17620 | AgrOrtholog |
COSMIC | NDEL1 | COSMIC |
Ensembl Genes | ENSG00000166579 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000334527 | ENTREZGENE |
ENST00000334527.12 | UniProtKB/Swiss-Prot | |
ENST00000380025 | ENTREZGENE | |
ENST00000380025.8 | UniProtKB/TrEMBL | |
ENST00000402554 | ENTREZGENE | |
ENST00000402554.7 | UniProtKB/Swiss-Prot | |
ENST00000580012.1 | UniProtKB/TrEMBL | |
ENST00000580237.5 | UniProtKB/TrEMBL | |
ENST00000581679.1 | UniProtKB/TrEMBL | |
ENST00000582277.5 | UniProtKB/TrEMBL | |
ENST00000582490.5 | UniProtKB/TrEMBL | |
ENST00000582665.5 | UniProtKB/TrEMBL | |
ENST00000582812.5 | UniProtKB/TrEMBL | |
ENST00000584866.1 | UniProtKB/TrEMBL | |
ENST00000585098.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 6.10.250.1080 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000166579 | GTEx |
HGNC ID | HGNC:17620 | ENTREZGENE |
Human Proteome Map | NDEL1 | Human Proteome Map |
InterPro | NUDE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NUDE_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:81565 | UniProtKB/Swiss-Prot |
NCBI Gene | 81565 | ENTREZGENE |
OMIM | 607538 | OMIM |
PANTHER | PTHR10921 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR10921:SF0 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | NUDE_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134887314 | PharmGKB |
UniProt | A6NIZ0 | ENTREZGENE, UniProtKB/TrEMBL |
B3KP93 | ENTREZGENE | |
B4DS41 | ENTREZGENE, UniProtKB/TrEMBL | |
D3DTS0 | ENTREZGENE | |
J3KRK9_HUMAN | UniProtKB/TrEMBL | |
J3KSF2_HUMAN | UniProtKB/TrEMBL | |
J3KT16_HUMAN | UniProtKB/TrEMBL | |
J3QL31_HUMAN | UniProtKB/TrEMBL | |
J3QL85_HUMAN | UniProtKB/TrEMBL | |
J3QLD0_HUMAN | UniProtKB/TrEMBL | |
J3QRD2_HUMAN | UniProtKB/TrEMBL | |
J3QRZ1_HUMAN | UniProtKB/TrEMBL | |
J3QSD2_HUMAN | UniProtKB/TrEMBL | |
J3QT32 | ENTREZGENE | |
NDEL1_HUMAN | UniProtKB/Swiss-Prot | |
Q86T80 | ENTREZGENE | |
Q8TAR7 | ENTREZGENE | |
Q9GZM8 | ENTREZGENE | |
Q9UH50 | ENTREZGENE | |
UniProt Secondary | B3KP93 | UniProtKB/Swiss-Prot |
D3DTS0 | UniProtKB/Swiss-Prot | |
J3QT32 | UniProtKB/Swiss-Prot | |
Q86T80 | UniProtKB/Swiss-Prot | |
Q8TAR7 | UniProtKB/Swiss-Prot | |
Q9UH50 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-01-12 | NDEL1 | nudE neurodevelopment protein 1 like 1 | NDEL1 | nudE neurodevelopment protein 1-like 1 | Symbol and/or name change | 5135510 | APPROVED |
2013-08-13 | NDEL1 | nudE neurodevelopment protein 1-like 1 | NDEL1 | nudE nuclear distribution E homolog (A. nidulans)-like 1 | Symbol and/or name change | 5135510 | APPROVED |
2012-03-01 | NDEL1 | nudE nuclear distribution E homolog (A. nidulans)-like 1 | NDEL1 | nudE nuclear distribution gene E homolog (A. nidulans)-like 1 | Symbol and/or name change | 5135510 | APPROVED |