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Cellular Component
Molecular Function
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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | biological_process | | ND | | 2290271 | | UniProtKB | GO_REF:0000015 | tRNA modification | | IBA | PANTHER:PTN000481021, PomBase:SPAC589.05c | 2290271 | (PMID:21873635) | GO_Central | PMID:21873635 | tRNA-guanine transglycosylation | | IBA | PANTHER:PTN000480968, PomBase:SPAC589.05c | 2290271 | (PMID:21873635) | GO_Central | PMID:21873635 | |
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1. | RGD automated import pipeline for gene-chemical interactions |
2. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PubMed | 14702039 15164053 15489334 19322201 20354154 20881960 21499256 21873635 24911101 25921289 26186194 26344197 27432908 28514442 29467282 30463901 |
C9orf64 (Homo sapiens - human) |
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2210016F16Rik (Mus musculus - house mouse) |
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RGD1311345 (Rattus norvegicus - Norway rat) |
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LOC102006267 (Chinchilla lanigera - long-tailed chinchilla) |
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C9H9orf64 (Pan paniscus - bonobo/pygmy chimpanzee) |
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C1H9orf64 (Canis lupus familiaris - dog) |
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CUNH9orf64 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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C10H9orf64 (Sus scrofa - pig) |
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SHGC-112554 |
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D8S2279 |
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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. |
RefSeq Transcripts | NM_001317997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_032307 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005252271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK090882 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AL354733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC004407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC137461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC137462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG709062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX116423 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB464056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001317997 ⟹ NP_001304926 | ||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
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Sequence: |
AAAGGAGAGGGGTGGGAGCGGGGTGGGGGCATCGCGACCCAGGGCAAGGCGGCGAGTCGCCGTChide sequence |
RefSeq Acc Id: | NM_032307 ⟹ NP_115683 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
GGAAGTGCTTGCGGCCTCTGCCCAGCGAGCTGCCCCGGGGTCTCTCTGGTTTCCTAATCAGGGChide sequence |
RefSeq Acc Id: | XM_005252271 ⟹ XP_005252328 | ||||||||||||||
RefSeq Status: | |||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
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Sequence: |
CGGAAGTGCTTGCGGCCTCTGCCCAGCGAGCTGCCCCGGGGTCTCTCTGGTTTCCTAATCAGGGhide sequence |
Protein RefSeqs | NP_001304926 | (Get FASTA) | NCBI Sequence Viewer |
NP_115683 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005252328 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI37462 | (Get FASTA) | NCBI Sequence Viewer |
AAI37463 | (Get FASTA) | NCBI Sequence Viewer | |
BAC03538 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62672 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62673 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62674 | (Get FASTA) | NCBI Sequence Viewer | |
Q5T6V5 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_115683 ⟸ NM_032307 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q5T6V5 (UniProtKB/Swiss-Prot) |
- Sequence: |
MDGLLNPRESSKFIAENSRDVFIDSGGVRRVAELLLAKAAGPELRVEGWKALHELNPRAADEAAhide sequence |
RefSeq Acc Id: | XP_005252328 ⟸ XM_005252271 |
- Peptide Label: | isoform X1 |
- Sequence: |
MDGLLNPRESSKFIAENSRDVFIDSGGVRRVAELLLAKAAGPELRVEGWKALHELNPRAADEAAhide sequence |
RefSeq Acc Id: | NP_001304926 ⟸ NM_001317997 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q5T6V5 (UniProtKB/Swiss-Prot), Q5T6V7 (UniProtKB/TrEMBL) |
- Sequence: |
MPLVEERHRILNETGKILLEKFGGSFLNCVRESENSAQKLMHLVVESFPSYRDVTLFEGKRVSFhide sequence |
RGD ID: | 7215335 | |||||||||
Promoter ID: | EPDNEW_H13414 | |||||||||
Type: | initiation region | |||||||||
Name: | C9orf64_2 | |||||||||
Description: | chromosome 9 open reading frame 64 | |||||||||
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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RGD ID: | 7215337 | |||||||||
Promoter ID: | EPDNEW_H13415 | |||||||||
Type: | initiation region | |||||||||
Name: | C9orf64_1 | |||||||||
Description: | chromosome 9 open reading frame 64 | |||||||||
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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RGD ID: | 6807334 | |||||||||
Promoter ID: | HG_KWN:63839 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid | |||||||||
Transcripts: | ENST00000376340, OTTHUMT00000052865, UC004ANC.1 | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 | copy number gain | See cases [RCV000136788] | Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 | copy number gain | See cases [RCV000139789] | Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3 |
pathogenic |
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.32(chr9:86456737-86570533)x3 | copy number gain | See cases [RCV000449316] | Chr9:86456737..86570533 [GRCh37] Chr9:9q21.32 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 | copy number gain | See cases [RCV000512280] | Chr9:70966262..90761254 [GRCh37] Chr9:9q21.11-22.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
Single allele | complex | Glioma [RCV000754871] | Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) | copy number gain | not provided [RCV000767645] | Chr9:79520825..97201274 [GRCh37] Chr9:9q21.2-22.32 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.32-21.33(chr9:86434567-88413614)x3 | copy number gain | not provided [RCV000846141] | Chr9:86434567..88413614 [GRCh37] Chr9:9q21.32-21.33 |
uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:28144 | AgrOrtholog |
COSMIC | C9orf64 | COSMIC |
Ensembl Genes | ENSG00000165118 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000318375 | ENTREZGENE, UniProtKB/TrEMBL |
ENSP00000365518 | UniProtKB/TrEMBL | |
ENSP00000365522 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000314700 | ENTREZGENE, UniProtKB/TrEMBL |
ENST00000376340 | UniProtKB/TrEMBL | |
ENST00000376344 | ENTREZGENE, UniProtKB/Swiss-Prot | |
GTEx | ENSG00000165118 | GTEx |
HGNC ID | HGNC:28144 | ENTREZGENE |
Human Proteome Map | C9orf64 | Human Proteome Map |
InterPro | Q_salvage | UniProtKB/Swiss-Prot |
KEGG Report | hsa:84267 | UniProtKB/Swiss-Prot |
NCBI Gene | 84267 | ENTREZGENE |
OMIM | 611342 | OMIM |
PANTHER | PTHR21314 | UniProtKB/Swiss-Prot |
Pfam | Q_salvage | UniProtKB/Swiss-Prot |
PharmGKB | PA134865965 | PharmGKB |
UniGene | Hs.208914 | ENTREZGENE |
UniProt | Q5T6V5 | ENTREZGENE |
Q5T6V6_HUMAN | UniProtKB/TrEMBL | |
Q5T6V7 | ENTREZGENE, UniProtKB/TrEMBL | |
QSPP_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B2RPI6 | UniProtKB/Swiss-Prot |
Q8N2B1 | UniProtKB/Swiss-Prot | |
Q9BT18 | UniProtKB/Swiss-Prot |
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More on C9orf64 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1322751 |
Created: | 2005-01-12 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.