Gene Ontology Annotations Click to see Annotation Detail View
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Gene Ontology Annotations Click to see Annotation Detail View
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C1GALT1C1L (Homo sapiens - human) |
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C1galt1c1l (Chinchilla lanigera - long-tailed chinchilla) |
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C1GALT1C1L (Pan paniscus - bonobo/pygmy chimpanzee) |
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C1GALT1C1L (Canis lupus familiaris - dog) |
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C1GALT1C1L (Sus scrofa - pig) |
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C1GALT1C1L (Chlorocebus sabaeus - green monkey) |
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C1galt1c1l (Heterocephalus glaber - naked mole-rat) |
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Variants in C1GALT1C1L
14 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 | copy number gain | See cases [RCV000052943] | Chr2:40738282..57863821 [GRCh38] Chr2:40965422..58090956 [GRCh37] Chr2:40818926..57944460 [NCBI36] Chr2:2p22.1-16.1 |
pathogenic |
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 | copy number gain | See cases [RCV000052933] | Chr2:66097..55570637 [GRCh38] Chr2:66097..55797773 [GRCh37] Chr2:56097..55651277 [NCBI36] Chr2:2p25.3-16.1 |
pathogenic |
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] | Chr2:32849247..45016061 [GRCh38] Chr2:33074314..45243200 [GRCh37] Chr2:32927818..45096704 [NCBI36] Chr2:2p22.3-21 |
pathogenic |
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 | copy number gain | See cases [RCV000141494] | Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2 |
benign |
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 | copy number gain | See cases [RCV000143682] | Chr2:236816..45983232 [GRCh38] Chr2:236816..46210371 [GRCh37] Chr2:226816..46063875 [NCBI36] Chr2:2p25.3-21 |
pathogenic |
NM_001101330.3(C1GALT1C1L):c.151A>C (p.Asn51His) | single nucleotide variant | not specified [RCV004296853] | Chr2:43676172 [GRCh38] Chr2:43903311 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.874C>T (p.Arg292Trp) | single nucleotide variant | not specified [RCV004126871] | Chr2:43675449 [GRCh38] Chr2:43902588 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.371A>C (p.Tyr124Ser) | single nucleotide variant | not specified [RCV004145331] | Chr2:43675952 [GRCh38] Chr2:43903091 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.30T>G (p.Phe10Leu) | single nucleotide variant | not specified [RCV004232703] | Chr2:43676293 [GRCh38] Chr2:43903432 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.61G>A (p.Val21Ile) | single nucleotide variant | not specified [RCV004229560] | Chr2:43676262 [GRCh38] Chr2:43903401 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.17G>A (p.Gly6Glu) | single nucleotide variant | not specified [RCV004234960] | Chr2:43676306 [GRCh38] Chr2:43903445 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.745G>A (p.Ala249Thr) | single nucleotide variant | not specified [RCV004203629] | Chr2:43675578 [GRCh38] Chr2:43902717 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.348G>C (p.Arg116Ser) | single nucleotide variant | not specified [RCV004140367] | Chr2:43675975 [GRCh38] Chr2:43903114 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.436T>A (p.Phe146Ile) | single nucleotide variant | not specified [RCV004116888] | Chr2:43675887 [GRCh38] Chr2:43903026 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.535G>A (p.Val179Met) | single nucleotide variant | not specified [RCV004127528] | Chr2:43675788 [GRCh38] Chr2:43902927 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.733A>G (p.Thr245Ala) | single nucleotide variant | not specified [RCV004178234] | Chr2:43675590 [GRCh38] Chr2:43902729 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.748C>A (p.Gln250Lys) | single nucleotide variant | not specified [RCV004194049] | Chr2:43675575 [GRCh38] Chr2:43902714 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.278A>G (p.Lys93Arg) | single nucleotide variant | not specified [RCV004077762] | Chr2:43676045 [GRCh38] Chr2:43903184 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.121G>C (p.Glu41Gln) | single nucleotide variant | not specified [RCV004365716] | Chr2:43676202 [GRCh38] Chr2:43903341 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.452A>G (p.Asn151Ser) | single nucleotide variant | not specified [RCV004429492] | Chr2:43675871 [GRCh38] Chr2:43903010 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.908C>T (p.Thr303Ile) | single nucleotide variant | not specified [RCV004429496] | Chr2:43675415 [GRCh38] Chr2:43902554 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.357G>C (p.Gln119His) | single nucleotide variant | not specified [RCV004429486] | Chr2:43675966 [GRCh38] Chr2:43903105 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.37A>G (p.Met13Val) | single nucleotide variant | not specified [RCV004429487] | Chr2:43676286 [GRCh38] Chr2:43903425 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.739C>A (p.Pro247Thr) | single nucleotide variant | not specified [RCV004429494] | Chr2:43675584 [GRCh38] Chr2:43902723 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.323T>C (p.Leu108Ser) | single nucleotide variant | not specified [RCV004429485] | Chr2:43676000 [GRCh38] Chr2:43903139 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.865G>C (p.Gly289Arg) | single nucleotide variant | not specified [RCV004429495] | Chr2:43675458 [GRCh38] Chr2:43902597 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.446T>C (p.Ile149Thr) | single nucleotide variant | not specified [RCV004429491] | Chr2:43675877 [GRCh38] Chr2:43903016 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.529G>A (p.Glu177Lys) | single nucleotide variant | not specified [RCV004429493] | Chr2:43675794 [GRCh38] Chr2:43902933 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.418C>T (p.Leu140Phe) | single nucleotide variant | not specified [RCV004429488] | Chr2:43675905 [GRCh38] Chr2:43903044 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001101330.3(C1GALT1C1L):c.425T>G (p.Leu142Arg) | single nucleotide variant | not specified [RCV004429489] | Chr2:43675898 [GRCh38] Chr2:43903037 [GRCh37] Chr2:2p21 |
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. |
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 | ||||||||||||||||||
Medium | 7 | 5 | 3 | 3 | 8 | 4 | 22 | 15 | 351 | 46 | ||||||||
Low | 1900 | 1978 | 1255 | 227 | 344 | 77 | 3132 | 1291 | 2851 | 333 | 996 | 1098 | 160 | 1 | 1187 | 1941 | 3 | |
Below cutoff | 462 | 351 | 373 | 311 | 473 | 301 | 1105 | 850 | 810 | 61 | 81 | 373 | 11 | 15 | 804 | 2 | 1 |
RefSeq Acc Id: | ENST00000475092 ⟹ ENSP00000489061 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001101330 ⟹ NP_001094800 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001094800 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | EAX00296 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSP00000489061 | ||
ENSP00000489061.1 | |||
GenBank Protein | P0DN25 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001094800 ⟸ NM_001101330 |
- UniProtKB: | P0DN25 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000489061 ⟸ ENST00000475092 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P0DN25-F1-model_v2 | AlphaFold | P0DN25 | 1-315 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:51617 | AgrOrtholog |
COSMIC | C1GALT1C1L | COSMIC |
Ensembl Genes | ENSG00000223658 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000475092 | ENTREZGENE |
ENST00000475092.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.90.550.50 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000223658 | GTEx |
HGNC ID | HGNC:51617 | ENTREZGENE |
Human Proteome Map | C1GALT1C1L | Human Proteome Map |
InterPro | C1GALT1/C1GALT1_chp1 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:728819 | UniProtKB/Swiss-Prot |
NCBI Gene | C1GALT1C1L | ENTREZGENE |
PANTHER | BETA1,3-GALACTOSYLTRANSFERASE | UniProtKB/Swiss-Prot |
C1GALT1-SPECIFIC CHAPERONE 1-LIKE PROTEIN | UniProtKB/Swiss-Prot | |
PharmGKB | PA166180566 | PharmGKB |
UniProt | C1C1L_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2018-02-27 | C1GALT1C1L | C1GALT1 specific chaperone 1 like | C1GALT1-specific chaperone 1 like | Symbol and/or name change | 5135510 | APPROVED |