Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | melanoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16778180 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | melanoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16778180 | |
# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
2. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:12453409 | PMID:14702039 | PMID:15308555 | PMID:15632201 | PMID:16189514 | PMID:16344560 | PMID:17207965 | PMID:19268525 | PMID:19491193 | PMID:19616115 | PMID:25416956 | PMID:25814554 |
PMID:26030842 | PMID:27107012 | PMID:27107014 | PMID:28246202 | PMID:28514442 | PMID:31515488 | PMID:32296183 | PMID:32814053 | PMID:33961781 | PMID:35914814 | PMID:36217029 |
DDIT4L (Homo sapiens - human) |
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Ddit4l (Mus musculus - house mouse) |
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Ddit4l (Rattus norvegicus - Norway rat) |
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Ddit4l (Chinchilla lanigera - long-tailed chinchilla) |
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DDIT4L (Pan paniscus - bonobo/pygmy chimpanzee) |
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DDIT4L (Canis lupus familiaris - dog) |
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Ddit4l (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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DDIT4L (Sus scrofa - pig) |
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DDIT4L (Chlorocebus sabaeus - green monkey) |
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Variants in DDIT4L
8 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] | Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3 |
pathogenic |
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 | copy number gain | See cases [RCV000051776] | Chr4:96092893..136410207 [GRCh38] Chr4:97014044..137331362 [GRCh37] Chr4:97233067..137550812 [NCBI36] Chr4:4q22.3-28.3 |
pathogenic |
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 | copy number loss | See cases [RCV000137269] | Chr4:80427023..100855441 [GRCh38] Chr4:81348177..101776598 [GRCh37] Chr4:81567201..101995621 [NCBI36] Chr4:4q21.21-24 |
pathogenic |
GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1 | copy number loss | See cases [RCV000140412] | Chr4:92610413..101521991 [GRCh38] Chr4:93531564..102443148 [GRCh37] Chr4:93750587..102662171 [NCBI36] Chr4:4q22.1-24 |
pathogenic |
GRCh38/hg38 4q23-24(chr4:100021886-100301285)x1 | copy number loss | See cases [RCV000143561] | Chr4:100021886..100301285 [GRCh38] Chr4:100943043..101222442 [GRCh37] Chr4:101162066..101441465 [NCBI36] Chr4:4q23-24 |
likely benign|uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 | copy number loss | See cases [RCV000445741] | Chr4:85805268..103678797 [GRCh37] Chr4:4q21.23-24 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1 | copy number loss | See cases [RCV000511194] | Chr4:92201567..103043808 [GRCh37] Chr4:4q22.1-24 |
pathogenic |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 | copy number gain | See cases [RCV000510970] | Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1 | copy number loss | not provided [RCV001259285] | Chr4:94692345..101308220 [GRCh37] Chr4:4q22.2-24 |
likely pathogenic |
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 | copy number gain | not provided [RCV001827745] | Chr4:95490755..109977216 [GRCh37] Chr4:4q22.3-25 |
likely pathogenic |
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 | copy number gain | not provided [RCV001827738] | Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21 |
pathogenic |
NM_145244.4(DDIT4L):c.310C>G (p.Arg104Gly) | single nucleotide variant | Inborn genetic diseases [RCV003276414] | Chr4:100187949 [GRCh38] Chr4:101109106 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_145244.4(DDIT4L):c.73C>T (p.Pro25Ser) | single nucleotide variant | Inborn genetic diseases [RCV002688370] | Chr4:100189911 [GRCh38] Chr4:101111068 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_145244.4(DDIT4L):c.530T>C (p.Val177Ala) | single nucleotide variant | Inborn genetic diseases [RCV002783252] | Chr4:100187729 [GRCh38] Chr4:101108886 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_145244.4(DDIT4L):c.314G>T (p.Gly105Val) | single nucleotide variant | Inborn genetic diseases [RCV002889006] | Chr4:100187945 [GRCh38] Chr4:101109102 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_145244.4(DDIT4L):c.209A>T (p.Gln70Leu) | single nucleotide variant | Inborn genetic diseases [RCV002782139] | Chr4:100188050 [GRCh38] Chr4:101109207 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_145244.4(DDIT4L):c.371T>C (p.Ile124Thr) | single nucleotide variant | Inborn genetic diseases [RCV002802757] | Chr4:100187888 [GRCh38] Chr4:101109045 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_145244.4(DDIT4L):c.137A>G (p.Glu46Gly) | single nucleotide variant | Inborn genetic diseases [RCV003300927] | Chr4:100188122 [GRCh38] Chr4:101109279 [GRCh37] Chr4:4q24 |
uncertain significance |
GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1 | copy number loss | not provided [RCV003485432] | Chr4:100542119..103793167 [GRCh37] Chr4:4q23-24 |
pathogenic |
GRCh37/hg19 4q23-24(chr4:100980656-101197518)x3 | copy number gain | not provided [RCV003484195] | Chr4:100980656..101197518 [GRCh37] Chr4:4q23-24 |
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. |
SHGC-50253 |
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SHGC-8633 |
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D4S2493E |
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SHGC-24757 |
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Ddit4l |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | 2 | 2 | 2 | |||||||||||||||
Medium | 47 | 56 | 13 | 94 | 16 | 1 | 998 | 824 | 373 | 114 | 128 | 33 | 95 | 48 | 858 | |||
Low | 1811 | 1880 | 1208 | 141 | 565 | 74 | 3089 | 1037 | 3272 | 258 | 1253 | 1333 | 74 | 1 | 1155 | 1845 | 5 | 2 |
Below cutoff | 490 | 968 | 459 | 349 | 1046 | 350 | 238 | 319 | 61 | 29 | 48 | 203 | 3 | 1 | 82 | 1 |
RefSeq Transcripts | NM_145244 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AK094236 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK312926 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL832277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP001961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AX379591 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC013592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471057 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB208869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000273990 ⟹ ENSP00000354830 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000502763 ⟹ ENSP00000427301 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000513992 ⟹ ENSP00000427040 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_145244 ⟹ NP_660287 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_660287 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH13592 | (Get FASTA) | NCBI Sequence Viewer |
BAC04315 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35770 | (Get FASTA) | NCBI Sequence Viewer | |
CAD28403 | (Get FASTA) | NCBI Sequence Viewer | |
CAI46176 | (Get FASTA) | NCBI Sequence Viewer | |
EAX06119 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000354830 | ||
ENSP00000354830.2 | |||
ENSP00000427040.1 | |||
ENSP00000427301.1 | |||
GenBank Protein | Q96D03 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_660287 ⟸ NM_145244 |
- UniProtKB: | B2R7C3 (UniProtKB/Swiss-Prot), Q96D03 (UniProtKB/Swiss-Prot), D6RJ99 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000427301 ⟸ ENST00000502763 |
RefSeq Acc Id: | ENSP00000354830 ⟸ ENST00000273990 |
RefSeq Acc Id: | ENSP00000427040 ⟸ ENST00000513992 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q96D03-F1-model_v2 | AlphaFold | Q96D03 | 1-193 | view protein structure |
RGD ID: | 6868130 | ||||||||
Promoter ID: | EPDNEW_H7230 | ||||||||
Type: | initiation region | ||||||||
Name: | DDIT4L_1 | ||||||||
Description: | DNA damage inducible transcript 4 like | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:30555 | AgrOrtholog |
COSMIC | DDIT4L | COSMIC |
Ensembl Genes | ENSG00000145358 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000273990 | ENTREZGENE |
ENST00000273990.6 | UniProtKB/Swiss-Prot | |
ENST00000502763.1 | UniProtKB/TrEMBL | |
ENST00000513992.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.90.470.40 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000145358 | GTEx |
HGNC ID | HGNC:30555 | ENTREZGENE |
Human Proteome Map | DDIT4L | Human Proteome Map |
InterPro | RTP801-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RTP801-like_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:115265 | UniProtKB/Swiss-Prot |
NCBI Gene | 115265 | ENTREZGENE |
OMIM | 607730 | OMIM |
PANTHER | DNA DAMAGE-INDUCIBLE TRANSCRIPT 4-LIKE PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12478 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | RTP801_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA128394749 | PharmGKB |
UniProt | B2R7C3 | ENTREZGENE |
D6RD49_HUMAN | UniProtKB/TrEMBL | |
D6RJ99 | ENTREZGENE, UniProtKB/TrEMBL | |
DDT4L_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | B2R7C3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-11-24 | DDIT4L | DNA damage inducible transcript 4 like | DNA-damage-inducible transcript 4-like | Symbol and/or name change | 5135510 | APPROVED |