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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | intellectual disability | | IAGP | RGD:42723466 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | intellectual disability | | IAGP | RGD:42723466 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | Hamada S, etal., Exp Anim 1997 Jul;46(3):235-9. |
3. | Osanai K, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Feb;298(2):L243-51. Epub 2009 Nov 6. |
4. | Rangel-Filho A, etal., J Am Soc Nephrol 2005 Apr;16(4):852-6. Epub 2005 Mar 9. |
5. | Rangel-Filho A, etal., J Am Soc Nephrol. 2013 Feb;24(2):283-92. doi: 10.1681/ASN.2012090927. Epub 2013 Jan 4. |
6. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | RGD automated import pipeline for gene-chemical interactions |
PMID:10910072 | PMID:11337364 | PMID:12477932 | PMID:12643545 | PMID:12850305 | PMID:15489334 | PMID:15761153 | PMID:17081065 | PMID:18477474 | PMID:19010793 | PMID:20103624 | PMID:21255211 |
PMID:21832049 | PMID:21873635 | PMID:22511774 | PMID:23084991 | PMID:24026199 | PMID:24875359 | PMID:24943344 | PMID:25324551 | PMID:25767741 | PMID:26186194 | PMID:26631737 | PMID:27103069 |
PMID:28514442 | PMID:30569114 | PMID:31552791 | PMID:32513696 | PMID:32814053 | PMID:33961781 | PMID:34209035 |
RAB38 (Homo sapiens - human) |
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Rab38 (Mus musculus - house mouse) |
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Rab38 (Rattus norvegicus - Norway rat) |
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Rab38 (Chinchilla lanigera - long-tailed chinchilla) |
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RAB38 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RAB38 (Canis lupus familiaris - dog) |
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Rab38 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RAB38 (Sus scrofa - pig) |
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RAB38 (Chlorocebus sabaeus - green monkey) |
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Rab38 (Heterocephalus glaber - naked mole-rat) |
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D11S4623 |
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RH93854 |
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D11S2791 |
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SHGC-144052 |
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RAB38_243.2 |
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STS-N33002 |
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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. |
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 | 1 | 5 | ||||||||||||||||
Medium | 67 | 60 | 440 | 46 | 406 | 19 | 1676 | 14 | 137 | 201 | 407 | 401 | 41 | 1 | 42 | 787 | 2 | |
Low | 2204 | 2176 | 1127 | 418 | 1270 | 289 | 1834 | 995 | 1261 | 210 | 1035 | 1165 | 129 | 1134 | 1184 | 4 | 2 | |
Below cutoff | 156 | 736 | 157 | 159 | 258 | 156 | 783 | 1110 | 2139 | 7 | 17 | 31 | 5 | 28 | 758 |
RefSeq Transcripts | NM_022337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_017017455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017017456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | ABBA01011544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
ABBA01017306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF136172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF235022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL546159 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP000676 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP001642 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP003388 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP005436 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AUXG01000107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AUXG01000108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC015808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT009842 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ178619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF455438 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000243662 ⟹ ENSP00000243662 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000526372 ⟹ ENSP00000433317 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000531138 ⟹ ENSP00000435340 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_022337 ⟹ NP_071732 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017017455 ⟹ XP_016872944 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017017456 ⟹ XP_016872945 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_071732 | (Get FASTA) | NCBI Sequence Viewer |
XP_016872944 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016872945 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAG30731 | (Get FASTA) | NCBI Sequence Viewer |
AAH15808 | (Get FASTA) | NCBI Sequence Viewer | |
AAP88844 | (Get FASTA) | NCBI Sequence Viewer | |
AAP97262 | (Get FASTA) | NCBI Sequence Viewer | |
ABA03166 | (Get FASTA) | NCBI Sequence Viewer | |
EAW59365 | (Get FASTA) | NCBI Sequence Viewer | |
EAW59366 | (Get FASTA) | NCBI Sequence Viewer | |
P57729 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_071732 ⟸ NM_022337 |
- UniProtKB: | P57729 (UniProtKB/Swiss-Prot), A0A024R191 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016872945 ⟸ XM_017017456 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_016872944 ⟸ XM_017017455 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | ENSP00000435340 ⟸ ENST00000531138 |
RefSeq Acc Id: | ENSP00000243662 ⟸ ENST00000243662 |
RefSeq Acc Id: | ENSP00000433317 ⟸ ENST00000526372 |
Name | Modeller | Protein Id | AA Range | Protein Structure | Video |
AF-P57729-F1-model_v2 | AlphaFold | P57729 | 1-211 | view protein structure |
RGD ID: | 6789290 | ||||||||
Promoter ID: | HG_KWN:13897 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000243662 | ||||||||
Position: |
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RGD ID: | 7221769 | ||||||||
Promoter ID: | EPDNEW_H16630 | ||||||||
Type: | initiation region | ||||||||
Name: | RAB38_1 | ||||||||
Description: | RAB38, member RAS oncogene family | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H16631 EPDNEW_H16632 EPDNEW_H16633 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 7221771 | ||||||||
Promoter ID: | EPDNEW_H16631 | ||||||||
Type: | initiation region | ||||||||
Name: | RAB38_3 | ||||||||
Description: | RAB38, member RAS oncogene family | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H16630 EPDNEW_H16632 EPDNEW_H16633 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 | copy number loss | See cases [RCV000052710] | Chr11:78232836..106779420 [GRCh38] Chr11:77943882..106650146 [GRCh37] Chr11:77621530..106155356 [NCBI36] Chr11:11q14.1-22.3 |
pathogenic |
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 | copy number loss | See cases [RCV000052711] | Chr11:85242847..102920097 [GRCh38] Chr11:84953891..102738968 [GRCh37] Chr11:84631539..102296037 [NCBI36] Chr11:11q14.1-22.2 |
pathogenic |
NM_022337.2(RAB38):c.483+14143A>G | single nucleotide variant | Lung cancer [RCV000110384] | Chr11:88135532 [GRCh38] Chr11:87868700 [GRCh37] Chr11:11q14.2 |
uncertain significance |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 | copy number loss | See cases [RCV000133838] | Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1 |
pathogenic |
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 | copy number loss | See cases [RCV000446395] | Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21 |
pathogenic |
GRCh37/hg19 11q14.2-14.3(chr11:87099219-91921385) | copy number loss | Abnormal esophagus morphology [RCV000416734] | Chr11:87099219..91921385 [GRCh37] Chr11:11q14.2-14.3 |
likely benign |
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1 | copy number loss | See cases [RCV000448436] | Chr11:84924674..93574799 [GRCh37] Chr11:11q14.1-21 |
likely pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187) | copy number loss | Intellectual disability [RCV000721939] | Chr11:81771852..90851187 [GRCh37] Chr11:11q14.1-14.3 |
pathogenic |
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 | copy number gain | not provided [RCV000683374] | Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 | copy number loss | not provided [RCV000737595] | Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2 |
pathogenic |
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 | copy number gain | not provided [RCV000750120] | Chr11:83179196..94716998 [GRCh37] Chr11:11q14.1-21 |
pathogenic |
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3 | copy number gain | not provided [RCV001006426] | Chr11:84830143..92029933 [GRCh37] Chr11:11q14.1-14.3 |
pathogenic |
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 | copy number loss | not provided [RCV001832892] | Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3 |
uncertain significance |
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) | copy number loss | not specified [RCV002052941] | Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21 |
pathogenic |
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799) | copy number loss | not specified [RCV002052942] | Chr11:84924674..93574799 [GRCh37] Chr11:11q14.1-21 |
likely pathogenic |
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) | copy number loss | not specified [RCV002052940] | Chr11:77855209..98002445 [GRCh37] Chr11:11q14.1-22.1 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:9776 | AgrOrtholog |
COSMIC | RAB38 | COSMIC |
Ensembl Genes | ENSG00000123892 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000243662 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000433317 | UniProtKB/TrEMBL | |
ENSP00000435340 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000243662 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000526372 | UniProtKB/TrEMBL | |
ENST00000531138 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000123892 | GTEx |
HGNC ID | HGNC:9776 | ENTREZGENE |
Human Proteome Map | RAB38 | Human Proteome Map |
InterPro | P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Rab29/Rab38/Rab32 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTP-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:23682 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 23682 | ENTREZGENE |
OMIM | 606281 | OMIM |
Pfam | Ras | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA34129 | PharmGKB |
PROSITE | RAB | UniProtKB/Swiss-Prot |
RAS | UniProtKB/TrEMBL | |
SMART | RHO | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TIGRFAMs | small_GTP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A024R191 | ENTREZGENE, UniProtKB/TrEMBL |
H0YDB7_HUMAN | UniProtKB/TrEMBL | |
H0YEA4_HUMAN | UniProtKB/TrEMBL | |
P57729 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q53XK7 | UniProtKB/Swiss-Prot |