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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TTC9 | Human | opiate dependence | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:18438686 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TTC9 | Human | opiate dependence | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:18438686 | |
# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
3. | Substance dependence low-density whole genome association study in two distinct American populations. | Yu Y, etal., Hum Genet. 2008 Jun;123(5):495-506. doi: 10.1007/s00439-008-0501-0. Epub 2008 Apr 26. |
PMID:9039502 | PMID:12477932 | PMID:15489334 | PMID:16678794 | PMID:18699990 | PMID:22917536 | PMID:25217961 | PMID:25798063 | PMID:30021884 | PMID:30325323 | PMID:33961781 | PMID:35063084 |
PMID:35831314 | PMID:35906200 | PMID:38293978 |
TTC9 (Homo sapiens - human) |
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Ttc9 (Mus musculus - house mouse) |
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Ttc9 (Rattus norvegicus - Norway rat) |
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Ttc9 (Chinchilla lanigera - long-tailed chinchilla) |
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TTC9 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TTC9 (Canis lupus familiaris - dog) |
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Ttc9 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TTC9 (Sus scrofa - pig) |
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TTC9 (Chlorocebus sabaeus - green monkey) |
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Ttc9 (Heterocephalus glaber - naked mole-rat) |
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Variants in TTC9
15 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 | copy number loss | See cases [RCV000134154] | Chr14:69562099..81975384 [GRCh38] Chr14:70028816..82441728 [GRCh37] Chr14:69098569..81511481 [NCBI36] Chr14:14q24.1-31.1 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 | copy number gain | See cases [RCV000135543] | Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 | copy number gain | See cases [RCV000143373] | Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 | copy number gain | See cases [RCV000446256] | Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 | copy number gain | See cases [RCV000448557] | Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) | copy number gain | See cases [RCV000512041] | Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1 | copy number loss | See cases [RCV000512344] | Chr14:68035240..73568130 [GRCh37] Chr14:14q24.1-24.2 |
likely pathogenic |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 | copy number gain | not provided [RCV000738412] | Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 | copy number gain | not provided [RCV000738413] | Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 | copy number gain | not provided [RCV000738414] | Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q24.2(chr14:71040157-71240681)x3 | copy number gain | not provided [RCV000751048] | Chr14:71040157..71240681 [GRCh37] Chr14:14q24.2 |
benign |
GRCh37/hg19 14q24.2(chr14:71139279-71598042)x3 | copy number gain | not provided [RCV000751049] | Chr14:71139279..71598042 [GRCh37] Chr14:14q24.2 |
benign |
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 | copy number gain | 14q22.2q24.3 duplication [RCV001506967] | Chr14:54654001..75828024 [GRCh37] Chr14:14q22.2-24.3 |
likely pathogenic |
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 | copy number gain | See cases [RCV002286356] | Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33 |
pathogenic |
NM_015351.2(TTC9):c.329T>C (p.Leu110Pro) | single nucleotide variant | not specified [RCV004194827] | Chr14:70642458 [GRCh38] Chr14:71109175 [GRCh37] Chr14:14q24.2 |
likely benign |
NM_015351.2(TTC9):c.352G>A (p.Glu118Lys) | single nucleotide variant | not specified [RCV004153257] | Chr14:70642481 [GRCh38] Chr14:71109198 [GRCh37] Chr14:14q24.2 |
uncertain significance |
NM_015351.2(TTC9):c.481G>C (p.Gly161Arg) | single nucleotide variant | not specified [RCV004098440] | Chr14:70667638 [GRCh38] Chr14:71134355 [GRCh37] Chr14:14q24.2 |
uncertain significance |
NM_015351.2(TTC9):c.23C>G (p.Ala8Gly) | single nucleotide variant | not specified [RCV004196585] | Chr14:70642152 [GRCh38] Chr14:71108869 [GRCh37] Chr14:14q24.2 |
uncertain significance |
NM_015351.2(TTC9):c.193G>A (p.Ala65Thr) | single nucleotide variant | not specified [RCV004329153] | Chr14:70642322 [GRCh38] Chr14:71109039 [GRCh37] Chr14:14q24.2 |
uncertain significance |
NM_015351.2(TTC9):c.122G>A (p.Arg41Lys) | single nucleotide variant | not specified [RCV004353164] | Chr14:70642251 [GRCh38] Chr14:71108968 [GRCh37] Chr14:14q24.2 |
uncertain significance |
NM_015351.2(TTC9):c.17C>T (p.Ser6Leu) | single nucleotide variant | not specified [RCV004362555] | Chr14:70642146 [GRCh38] Chr14:71108863 [GRCh37] Chr14:14q24.2 |
uncertain significance |
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 | copy number gain | not provided [RCV003485036] | Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33 |
pathogenic |
NM_015351.2(TTC9):c.284G>C (p.Gly95Ala) | single nucleotide variant | not specified [RCV004479288] | Chr14:70642413 [GRCh38] Chr14:71109130 [GRCh37] Chr14:14q24.2 |
uncertain significance |
NM_015351.2(TTC9):c.308C>T (p.Pro103Leu) | single nucleotide variant | not specified [RCV004479289] | Chr14:70642437 [GRCh38] Chr14:71109154 [GRCh37] Chr14:14q24.2 |
uncertain significance |
NM_015351.2(TTC9):c.550C>T (p.Leu184Phe) | single nucleotide variant | not specified [RCV004479291] | Chr14:70667707 [GRCh38] Chr14:71134424 [GRCh37] Chr14:14q24.2 |
uncertain significance |
NM_015351.2(TTC9):c.596A>G (p.Asn199Ser) | single nucleotide variant | not specified [RCV004479292] | Chr14:70671082 [GRCh38] Chr14:71137799 [GRCh37] Chr14:14q24.2 |
uncertain significance |
NM_015351.2(TTC9):c.625A>T (p.Met209Leu) | single nucleotide variant | not specified [RCV004479293] | Chr14:70671111 [GRCh38] Chr14:71137828 [GRCh37] Chr14:14q24.2 |
uncertain significance |
NM_015351.2(TTC9):c.82C>T (p.Pro28Ser) | single nucleotide variant | not specified [RCV004682725] | Chr14:70642211 [GRCh38] Chr14:71108928 [GRCh37] Chr14:14q24.2 |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
G38116 |
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A005T47 |
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G20494 |
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G38256 |
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SHGC-3622 |
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D14S906 |
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RH25433 |
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G38244 |
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G20823 |
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A006H41 |
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STS-Z40406 |
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WI-20573 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2432 | 2788 | 2246 | 4941 | 1722 | 2344 | 5 | 621 | 1923 | 463 | 2246 | 7261 | 6434 | 51 | 3725 | 848 | 1734 | 1611 | 175 | 1 |
RefSeq Transcripts | NG_012648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_015351 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC004816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AL357153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC047950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX407741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471061 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D86980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF455928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000256367 ⟹ ENSP00000256367 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_015351 ⟹ NP_056166 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_056166 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH47950 | (Get FASTA) | NCBI Sequence Viewer |
BAA13216 | (Get FASTA) | NCBI Sequence Viewer | |
EAW81043 | (Get FASTA) | NCBI Sequence Viewer | |
EAW81044 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000256367 | ||
ENSP00000256367.2 | |||
GenBank Protein | Q92623 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_056166 ⟸ NM_015351 |
- UniProtKB: | Q92623 (UniProtKB/Swiss-Prot), Q86WT2 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000256367 ⟸ ENST00000256367 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q92623-F1-model_v2 | AlphaFold | Q92623 | 1-222 | view protein structure |
RGD ID: | 6791997 | ||||||||
Promoter ID: | HG_KWN:19690 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, K562, Lymphoblastoid | ||||||||
Transcripts: | NM_015351, UC001XMH.1 | ||||||||
Position: |
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RGD ID: | 7228037 | ||||||||
Promoter ID: | EPDNEW_H19764 | ||||||||
Type: | initiation region | ||||||||
Name: | TTC9_1 | ||||||||
Description: | tetratricopeptide repeat domain 9 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H19765 EPDNEW_H19766 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 7228039 | ||||||||
Promoter ID: | EPDNEW_H19765 | ||||||||
Type: | initiation region | ||||||||
Name: | TTC9_2 | ||||||||
Description: | tetratricopeptide repeat domain 9 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H19764 EPDNEW_H19766 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 7228041 | ||||||||
Promoter ID: | EPDNEW_H19766 | ||||||||
Type: | initiation region | ||||||||
Name: | TTC9_3 | ||||||||
Description: | tetratricopeptide repeat domain 9 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H19764 EPDNEW_H19765 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:20267 | AgrOrtholog |
COSMIC | TTC9 | COSMIC |
Ensembl Genes | ENSG00000133985 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000256367 | ENTREZGENE |
ENST00000256367.3 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000133985 | GTEx |
HGNC ID | HGNC:20267 | ENTREZGENE |
Human Proteome Map | TTC9 | Human Proteome Map |
InterPro | Immunophilin_FKBP-type | UniProtKB/Swiss-Prot |
TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot | |
TPR_2 | UniProtKB/Swiss-Prot | |
TPR_repeat | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:23508 | UniProtKB/Swiss-Prot |
NCBI Gene | 23508 | ENTREZGENE |
OMIM | 610488 | OMIM |
PANTHER | PEPTIDYLPROLYL ISOMERASE | UniProtKB/Swiss-Prot |
TETRATRICOPEPTIDE REPEAT DOMAIN 9 | UniProtKB/Swiss-Prot | |
Pfam | TPR_2 | UniProtKB/Swiss-Prot |
PharmGKB | PA134905515 | PharmGKB |
PROSITE | TPR | UniProtKB/Swiss-Prot |
TPR_REGION | UniProtKB/Swiss-Prot | |
SMART | TPR | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF48452 | UniProtKB/Swiss-Prot |
UniProt | Q86WT2 | ENTREZGENE |
Q92623 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q86WT2 | UniProtKB/Swiss-Prot |