Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Experimental Liver Cirrhosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Experimental Liver Cirrhosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8125298 | PMID:8889548 | PMID:12477932 | PMID:17207965 | PMID:19056867 | PMID:19933165 | PMID:22939629 | PMID:23376485 | PMID:23864651 | PMID:28514442 | PMID:28712724 | PMID:31318583 |
PMID:32296183 | PMID:33022573 | PMID:33961781 |
CYSTM1 (Homo sapiens - human) |
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Cystm1 (Mus musculus - house mouse) |
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Cystm1 (Rattus norvegicus - Norway rat) |
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Cystm1 (Chinchilla lanigera - long-tailed chinchilla) |
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CYSTM1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CYSTM1 (Canis lupus familiaris - dog) |
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CYSTM1 (Sus scrofa - pig) |
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CYSTM1 (Chlorocebus sabaeus - green monkey) |
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Cystm1 (Heterocephalus glaber - naked mole-rat) |
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Variants in CYSTM1
7 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 | copy number gain | See cases [RCV000051193] | Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2 |
pathogenic |
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 | copy number loss | See cases [RCV000052142] | Chr5:138871137..145812309 [GRCh38] Chr5:138206826..145191872 [GRCh37] Chr5:138234725..145172065 [NCBI36] Chr5:5q31.2-32 |
pathogenic |
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 | copy number loss | See cases [RCV000053524] | Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2 |
pathogenic |
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 | copy number gain | See cases [RCV000134725] | Chr5:137836682..140696361 [GRCh38] Chr5:137172371..140075946 [GRCh37] Chr5:137200270..140056130 [NCBI36] Chr5:5q31.2-31.3 |
pathogenic |
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 | copy number gain | See cases [RCV000138808] | Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2 |
pathogenic |
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 | copy number gain | See cases [RCV000142806] | Chr5:138942857..144605017 [GRCh38] Chr5:138278546..143984580 [GRCh37] Chr5:138306445..143964773 [NCBI36] Chr5:5q31.2-31.3 |
uncertain significance |
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 | copy number gain | not provided [RCV000487658] | Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 | copy number gain | See cases [RCV000449349] | Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) | copy number gain | See cases [RCV000510723] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 | copy number gain | See cases [RCV000448245] | Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
NC_000005.9:g.(?_86400000)_(154000000_?)del | deletion | Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] | Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2 |
pathogenic |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 | copy number loss | See cases [RCV000511978] | Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 | copy number gain | See cases [RCV000512039] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 | copy number loss | not provided [RCV000682600] | Chr5:139147238..141540491 [GRCh37] Chr5:5q31.2-31.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 | copy number gain | not provided [RCV000744323] | Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 | copy number gain | not provided [RCV000744317] | Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
Single allele | deletion | Neurodevelopmental disorder [RCV000787436] | Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3 | copy number gain | not provided [RCV000846756] | Chr5:139447779..140047037 [GRCh37] Chr5:5q31.2-31.3 |
uncertain significance |
NC_000005.9:g.(?_136633338)_(140998481_?)dup | duplication | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] | Chr5:136633338..140998481 [GRCh37] Chr5:5q31.2-31.3 |
uncertain significance |
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1 | copy number loss | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202] | Chr5:139493717..140517454 [GRCh37] Chr5:5q31.2-31.3 |
pathogenic |
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) | copy number gain | not specified [RCV002053526] | Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
NC_000005.9:g.(?_136957787)_(140078137_?)dup | duplication | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] | Chr5:136957787..140078137 [GRCh37] Chr5:5q31.2-31.3 |
uncertain significance |
NM_032412.4(CYSTM1):c.148G>A (p.Gly50Ser) | single nucleotide variant | Inborn genetic diseases [RCV003264411] | Chr5:140194613 [GRCh38] Chr5:139574198 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_032412.4(CYSTM1):c.212G>A (p.Arg71Lys) | single nucleotide variant | Inborn genetic diseases [RCV002988315] | Chr5:140243329 [GRCh38] Chr5:139622914 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_032412.4(CYSTM1):c.233C>T (p.Thr78Ile) | single nucleotide variant | Inborn genetic diseases [RCV002934833] | Chr5:140243350 [GRCh38] Chr5:139622935 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_032412.4(CYSTM1):c.226C>T (p.Pro76Ser) | single nucleotide variant | Inborn genetic diseases [RCV003191902] | Chr5:140243343 [GRCh38] Chr5:139622928 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_032412.4(CYSTM1):c.119G>C (p.Gly40Ala) | single nucleotide variant | Inborn genetic diseases [RCV003353984] | Chr5:140194584 [GRCh38] Chr5:139574169 [GRCh37] Chr5:5q31.3 |
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. |
SGC33030 |
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D5S1867 |
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RH41916 |
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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 | 5 | 9 | 9 | 1 | 1 | |||||||||||||
Medium | 2429 | 2893 | 1672 | 568 | 1824 | 419 | 4233 | 2119 | 3658 | 416 | 1422 | 1599 | 163 | 1 | 1204 | 2738 | 4 | 1 |
Low | 4 | 89 | 54 | 56 | 112 | 46 | 124 | 78 | 73 | 2 | 38 | 13 | 11 | 50 | 2 | 1 | ||
Below cutoff | 1 | 6 | 2 |
RefSeq Transcripts | NM_032412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC011379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC011380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ245877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK311640 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC013643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC023982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM919999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA310907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000261811 ⟹ ENSP00000261811 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000504227 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000509589 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000509789 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000644078 ⟹ ENSP00000494642 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_032412 ⟹ NP_115788 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_115788 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH13643 | (Get FASTA) | NCBI Sequence Viewer |
AAH23982 | (Get FASTA) | NCBI Sequence Viewer | |
CAC21572 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62073 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62074 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000261811 | ||
ENSP00000261811.4 | |||
ENSP00000494642.1 | |||
GenBank Protein | Q9H1C7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_115788 ⟸ NM_032412 |
- UniProtKB: | Q8TBA5 (UniProtKB/Swiss-Prot), Q9H1C7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000261811 ⟸ ENST00000261811 |
RefSeq Acc Id: | ENSP00000494642 ⟸ ENST00000644078 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9H1C7-F1-model_v2 | AlphaFold | Q9H1C7 | 1-97 | view protein structure |
RGD ID: | 6802907 | ||||||||
Promoter ID: | HG_KWN:51256 | ||||||||
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: | NM_032412, UC010JFI.1 | ||||||||
Position: |
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RGD ID: | 6870786 | ||||||||
Promoter ID: | EPDNEW_H8558 | ||||||||
Type: | initiation region | ||||||||
Name: | CYSTM1_1 | ||||||||
Description: | cysteine rich transmembrane module containing 1 | ||||||||
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:30239 | AgrOrtholog |
COSMIC | CYSTM1 | COSMIC |
Ensembl Genes | ENSG00000120306 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000261811 | ENTREZGENE |
ENST00000261811.6 | UniProtKB/Swiss-Prot | |
ENST00000644078.1 | UniProtKB/TrEMBL | |
GTEx | ENSG00000120306 | GTEx |
HGNC ID | HGNC:30239 | ENTREZGENE |
Human Proteome Map | CYSTM1 | Human Proteome Map |
InterPro | CYSTM1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:84418 | UniProtKB/Swiss-Prot |
NCBI Gene | 84418 | ENTREZGENE |
PANTHER | CYSTEINE-RICH AND TRANSMEMBRANE DOMAIN-CONTAINING PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR47564 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA162380028 | PharmGKB |
UniProt | A0A2R8YEW2_HUMAN | UniProtKB/TrEMBL |
CYTM1_HUMAN | UniProtKB/Swiss-Prot | |
Q8TBA5 | ENTREZGENE | |
Q9H1C7 | ENTREZGENE | |
UniProt Secondary | Q8TBA5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-02 | CYSTM1 | cysteine rich transmembrane module containing 1 | cysteine-rich transmembrane module containing 1 | Symbol and/or name change | 5135510 | APPROVED | |
2012-03-01 | CYSTM1 | cysteine-rich transmembrane module containing 1 | C5orf32 | chromosome 5 open reading frame 32 | Symbol and/or name change | 5135510 | APPROVED |