TTC24 (tetratricopeptide repeat domain 24) - Rat Genome Database

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Gene: TTC24 (tetratricopeptide repeat domain 24) Homo sapiens
Analyze
Symbol: TTC24
Name: tetratricopeptide repeat domain 24
RGD ID: 1602975
HGNC Page HGNC:32348
Description: ASSOCIATED WITH Charcot-Marie-Tooth disease type 2; Gastrointestinal stroma tumor; gastrointestinal stromal tumor; INTERACTS WITH aflatoxin B1; Aflatoxin B2 alpha; aristolochic acid A
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ20249; tetratricopeptide repeat protein 24; TPR repeat protein 24
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,579,723 - 156,587,719 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,579,723 - 156,587,719 (+)EnsemblGRCh38hg38GRCh38
GRCh371156,549,515 - 156,557,511 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,818,481 - 154,823,526 (+)NCBINCBI36Build 36hg18NCBI36
Celera1129,620,311 - 129,627,354 (+)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1127,907,248 - 127,914,290 (+)NCBIHuRef
CHM1_11157,945,711 - 157,952,754 (+)NCBICHM1_1
T2T-CHM13v2.01155,716,091 - 155,724,195 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:11181995   PMID:35575683  


Genomics

Comparative Map Data
TTC24
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,579,723 - 156,587,719 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,579,723 - 156,587,719 (+)EnsemblGRCh38hg38GRCh38
GRCh371156,549,515 - 156,557,511 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,818,481 - 154,823,526 (+)NCBINCBI36Build 36hg18NCBI36
Celera1129,620,311 - 129,627,354 (+)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1127,907,248 - 127,914,290 (+)NCBIHuRef
CHM1_11157,945,711 - 157,952,754 (+)NCBICHM1_1
T2T-CHM13v2.01155,716,091 - 155,724,195 (+)NCBIT2T-CHM13v2.0
Ttc24
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39387,976,717 - 87,985,611 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl387,976,717 - 87,985,611 (-)EnsemblGRCm39 Ensembl
GRCm39 Ensembl387,977,334 - 87,982,824 (-)EnsemblGRCm39 Ensembl
GRCm38388,069,410 - 88,078,304 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl388,069,410 - 88,078,304 (-)EnsemblGRCm38mm10GRCm38
MGSCv37387,873,332 - 87,882,226 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36388,155,337 - 88,164,231 (-)NCBIMGSCv36mm8
Celera388,108,991 - 88,117,903 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map338.78NCBI
Ttc24
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82175,818,921 - 175,830,991 (-)NCBIGRCr8
mRatBN7.22173,525,204 - 173,533,182 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2173,524,600 - 173,533,107 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.02187,426,432 - 187,438,482 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2187,430,767 - 187,435,323 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02206,833,574 - 206,841,478 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42180,138,735 - 180,143,501 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2167,468,325 - 167,480,376 (-)NCBICelera
Cytogenetic Map2q34NCBI
Ttc24
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555452,670,629 - 2,679,093 (+)NCBIChiLan1.0ChiLan1.0
TTC24
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2193,256,094 - 93,263,081 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1192,990,621 - 92,997,566 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01131,925,121 - 131,931,589 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11135,748,836 - 135,754,007 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1135,747,196 - 135,754,227 (+)Ensemblpanpan1.1panPan2
TTC24
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1741,372,960 - 41,381,514 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha740,860,605 - 40,869,172 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0741,236,459 - 41,245,096 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1741,018,101 - 41,026,655 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0741,071,346 - 41,079,901 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0741,355,024 - 41,363,582 (-)NCBIUU_Cfam_GSD_1.0
Ttc24
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505826,728,410 - 26,735,988 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365805,758,792 - 5,766,327 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TTC24
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl493,500,564 - 93,510,815 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1493,500,900 - 93,512,039 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24102,275,794 - 102,284,140 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TTC24
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1207,275,898 - 7,289,531 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl207,275,064 - 7,281,253 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660386,572,293 - 6,579,465 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ttc24
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248851,768,702 - 1,777,349 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TTC24
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001105669.2(TTC24):c.1722G>A (p.Met574Ile) single nucleotide variant Malignant melanoma [RCV000064203] Chr1:156586523 [GRCh38]
Chr1:156556315 [GRCh37]
Chr1:154822939 [NCBI36]
Chr1:1q22		 not provided
GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1 copy number loss See cases [RCV000138561] Chr1:156256495..156681863 [GRCh38]
Chr1:156226286..156651655 [GRCh37]
Chr1:154492910..154918279 [NCBI36]
Chr1:1q22-23.1		 likely pathogenic
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 copy number loss not provided [RCV000684658] Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1		 pathogenic
GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3 copy number gain not provided [RCV000684659] Chr1:155999570..156844432 [GRCh37]
Chr1:1q22-23.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
LMNA-NTRK1 fusion fusion Congenital fibrosarcoma [RCV000754610] Chr1:156100565..156844697 [GRCh37]
Chr1:1q22-23.1		 pathogenic
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3 copy number gain not provided [RCV000848811] Chr1:155770505..156652136 [GRCh37]
Chr1:1q22-23.1		 uncertain significance
NM_001105669.4(TTC24):c.571C>T (p.Arg191Trp) single nucleotide variant not specified [RCV004281614] Chr1:156581935 [GRCh38]
Chr1:156551727 [GRCh37]
Chr1:1q22		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_155581953)_(156851434_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV001983077] Chr1:155581953..156851434 [GRCh37]
Chr1:1q22-23.1		 pathogenic
NC_000001.10:g.(?_154141761)_(156851434_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV001990060] Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
NC_000001.10:g.(?_156554669)_(156568838_?)del deletion not provided [RCV003113644] Chr1:156554669..156568838 [GRCh37]
Chr1:1q23.1		 pathogenic
NM_001105669.4(TTC24):c.91C>T (p.Arg31Trp) single nucleotide variant not specified [RCV004310274] Chr1:156581455 [GRCh38]
Chr1:156551247 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1307C>T (p.Thr436Ile) single nucleotide variant not specified [RCV004159953] Chr1:156584932 [GRCh38]
Chr1:156554724 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.496G>A (p.Ala166Thr) single nucleotide variant not specified [RCV004070000] Chr1:156581860 [GRCh38]
Chr1:156551652 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.599C>T (p.Ala200Val) single nucleotide variant not specified [RCV004231025] Chr1:156581963 [GRCh38]
Chr1:156551755 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.218G>A (p.Arg73Lys) single nucleotide variant not specified [RCV004218480] Chr1:156581582 [GRCh38]
Chr1:156551374 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.344G>A (p.Arg115Gln) single nucleotide variant not specified [RCV004069784] Chr1:156581708 [GRCh38]
Chr1:156551500 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.118A>C (p.Thr40Pro) single nucleotide variant not specified [RCV004120181] Chr1:156581482 [GRCh38]
Chr1:156551274 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.773C>A (p.Ala258Asp) single nucleotide variant not specified [RCV004106849] Chr1:156582297 [GRCh38]
Chr1:156552089 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.112G>A (p.Ala38Thr) single nucleotide variant not specified [RCV004148271] Chr1:156581476 [GRCh38]
Chr1:156551268 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.880G>A (p.Glu294Lys) single nucleotide variant not specified [RCV004203933] Chr1:156582404 [GRCh38]
Chr1:156552196 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.411G>T (p.Leu137Phe) single nucleotide variant not specified [RCV004219194] Chr1:156581775 [GRCh38]
Chr1:156551567 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.76A>G (p.Lys26Glu) single nucleotide variant not specified [RCV004074325] Chr1:156581440 [GRCh38]
Chr1:156551232 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1177C>T (p.Arg393Trp) single nucleotide variant not specified [RCV004117818] Chr1:156583821 [GRCh38]
Chr1:156553613 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.185C>T (p.Ala62Val) single nucleotide variant not specified [RCV004126369] Chr1:156581549 [GRCh38]
Chr1:156551341 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1264G>A (p.Gly422Arg) single nucleotide variant not specified [RCV004180621] Chr1:156584889 [GRCh38]
Chr1:156554681 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1622C>T (p.Ala541Val) single nucleotide variant not specified [RCV004148747] Chr1:156586000 [GRCh38]
Chr1:156555792 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1498G>C (p.Ala500Pro) single nucleotide variant not specified [RCV004139981] Chr1:156585754 [GRCh38]
Chr1:156555546 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1415C>T (p.Ser472Leu) single nucleotide variant not specified [RCV004169911] Chr1:156585190 [GRCh38]
Chr1:156554982 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.808G>A (p.Gly270Arg) single nucleotide variant not specified [RCV004176236] Chr1:156582332 [GRCh38]
Chr1:156552124 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.572G>A (p.Arg191Gln) single nucleotide variant not specified [RCV004136497] Chr1:156581936 [GRCh38]
Chr1:156551728 [GRCh37]
Chr1:1q22		 likely benign
NM_001105669.4(TTC24):c.940C>T (p.Arg314Trp) single nucleotide variant not specified [RCV004215708] Chr1:156583071 [GRCh38]
Chr1:156552863 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1552G>A (p.Gly518Ser) single nucleotide variant not specified [RCV004217414] Chr1:156585808 [GRCh38]
Chr1:156555600 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1294C>G (p.Gln432Glu) single nucleotide variant not specified [RCV004276793] Chr1:156584919 [GRCh38]
Chr1:156554711 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1481A>G (p.Asn494Ser) single nucleotide variant not specified [RCV004285146] Chr1:156585737 [GRCh38]
Chr1:156555529 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.514C>G (p.Leu172Val) single nucleotide variant not specified [RCV004256777] Chr1:156581878 [GRCh38]
Chr1:156551670 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.805C>A (p.Pro269Thr) single nucleotide variant not specified [RCV004308932] Chr1:156582329 [GRCh38]
Chr1:156552121 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.758C>T (p.Pro253Leu) single nucleotide variant not specified [RCV004261583] Chr1:156582282 [GRCh38]
Chr1:156552074 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1178G>C (p.Arg393Pro) single nucleotide variant not specified [RCV004306558] Chr1:156583822 [GRCh38]
Chr1:156553614 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
NM_001105669.4(TTC24):c.925C>T (p.Arg309Trp) single nucleotide variant not specified [RCV004344135] Chr1:156583056 [GRCh38]
Chr1:156552848 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.860G>A (p.Gly287Asp) single nucleotide variant not specified [RCV004358576] Chr1:156582384 [GRCh38]
Chr1:156552176 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.598G>A (p.Ala200Thr) single nucleotide variant not specified [RCV004336115] Chr1:156581962 [GRCh38]
Chr1:156551754 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.859G>A (p.Gly287Ser) single nucleotide variant not specified [RCV004341899] Chr1:156582383 [GRCh38]
Chr1:156552175 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1510C>T (p.Pro504Ser) single nucleotide variant not specified [RCV004356986] Chr1:156585766 [GRCh38]
Chr1:156555558 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.460G>A (p.Gly154Arg) single nucleotide variant not specified [RCV004358516] Chr1:156581824 [GRCh38]
Chr1:156551616 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q22-23.1(chr1:156486831-156590431)x1 copy number loss not provided [RCV003483416] Chr1:156486831..156590431 [GRCh37]
Chr1:1q22-23.1		 uncertain significance
NM_001105669.4(TTC24):c.294C>T (p.Gly98=) single nucleotide variant not provided [RCV003409149] Chr1:156581658 [GRCh38]
Chr1:156551450 [GRCh37]
Chr1:1q22		 likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1 copy number loss not specified [RCV003986928] Chr1:154302443..156868186 [GRCh37]
Chr1:1q21.3-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_001105669.4(TTC24):c.1141G>A (p.Ala381Thr) single nucleotide variant not specified [RCV004479066] Chr1:156583439 [GRCh38]
Chr1:156553231 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1193T>A (p.Leu398Gln) single nucleotide variant not specified [RCV004479067] Chr1:156583837 [GRCh38]
Chr1:156553629 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1283G>A (p.Gly428Asp) single nucleotide variant not specified [RCV004479068] Chr1:156584908 [GRCh38]
Chr1:156554700 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1318G>T (p.Ala440Ser) single nucleotide variant not specified [RCV004479069] Chr1:156584943 [GRCh38]
Chr1:156554735 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.159T>G (p.His53Gln) single nucleotide variant not specified [RCV004479071] Chr1:156581523 [GRCh38]
Chr1:156551315 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1646C>T (p.Pro549Leu) single nucleotide variant not specified [RCV004479072] Chr1:156586024 [GRCh38]
Chr1:156555816 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.1706G>A (p.Arg569His) single nucleotide variant not specified [RCV004479073] Chr1:156586507 [GRCh38]
Chr1:156556299 [GRCh37]
Chr1:1q22		 likely benign
NM_001105669.4(TTC24):c.311G>A (p.Arg104Gln) single nucleotide variant not specified [RCV004479074] Chr1:156581675 [GRCh38]
Chr1:156551467 [GRCh37]
Chr1:1q22		 likely benign
NM_001105669.4(TTC24):c.352G>A (p.Asp118Asn) single nucleotide variant not specified [RCV004479075] Chr1:156581716 [GRCh38]
Chr1:156551508 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.427G>A (p.Ala143Thr) single nucleotide variant not specified [RCV004479076] Chr1:156581791 [GRCh38]
Chr1:156551583 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.598G>T (p.Ala200Ser) single nucleotide variant not specified [RCV004479078] Chr1:156581962 [GRCh38]
Chr1:156551754 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.626G>A (p.Arg209Gln) single nucleotide variant not specified [RCV004479079] Chr1:156581990 [GRCh38]
Chr1:156551782 [GRCh37]
Chr1:1q22		 likely benign
NM_001105669.4(TTC24):c.631C>T (p.Arg211Trp) single nucleotide variant not specified [RCV004479080] Chr1:156581995 [GRCh38]
Chr1:156551787 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.923A>C (p.Gln308Pro) single nucleotide variant not specified [RCV004479082] Chr1:156583054 [GRCh38]
Chr1:156552846 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3 copy number gain not provided [RCV004577444] Chr1:155709113..159191078 [GRCh37]
Chr1:1q22-23.2		 likely pathogenic
NM_001105669.4(TTC24):c.1646C>A (p.Pro549His) single nucleotide variant not specified [RCV004682633] Chr1:156586024 [GRCh38]
Chr1:156555816 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.811G>A (p.Glu271Lys) single nucleotide variant not specified [RCV004687809] Chr1:156582335 [GRCh38]
Chr1:156552127 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.632G>A (p.Arg211Gln) single nucleotide variant not specified [RCV004682635] Chr1:156581996 [GRCh38]
Chr1:156551788 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.667C>T (p.Arg223Trp) single nucleotide variant not specified [RCV004682636] Chr1:156582031 [GRCh38]
Chr1:156551823 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.950G>A (p.Gly317Asp) single nucleotide variant not specified [RCV004682637] Chr1:156583081 [GRCh38]
Chr1:156552873 [GRCh37]
Chr1:1q22		 uncertain significance
NM_001105669.4(TTC24):c.105C>A (p.Ser35Arg) single nucleotide variant not specified [RCV004682638] Chr1:156581469 [GRCh38]
Chr1:156551261 [GRCh37]
Chr1:1q22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1650
Count of miRNA genes:659
Interacting mature miRNAs:733
Transcripts:ENST00000368236, ENST00000368237, ENST00000413282, ENST00000462049, ENST00000478081, ENST00000495690
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1070 1730 2164 1391 3971 1441 1958 1 508 1846 357 1726 5649 5024 17 3136 627 1508 1367 154

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001105669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL365181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW628680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ216668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX414790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000368236   ⟹   ENSP00000357219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,579,723 - 156,587,719 (+)Ensembl
Ensembl Acc Id: ENST00000413282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,582,067 - 156,585,244 (+)Ensembl
Ensembl Acc Id: ENST00000462049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,584,549 - 156,585,516 (+)Ensembl
Ensembl Acc Id: ENST00000478081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,582,427 - 156,585,841 (+)Ensembl
Ensembl Acc Id: ENST00000495690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,582,293 - 156,585,227 (+)Ensembl
RefSeq Acc Id: NM_001105669   ⟹   NP_001099139
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,579,723 - 156,587,719 (+)NCBI
GRCh371156,549,519 - 156,556,562 (+)RGD
Build 361154,818,481 - 154,823,526 (+)NCBI Archive
Celera1129,620,311 - 129,627,354 (+)RGD
HuRef1127,907,248 - 127,914,290 (+)ENTREZGENE
CHM1_11157,945,711 - 157,952,754 (+)NCBI
T2T-CHM13v2.01155,716,091 - 155,724,087 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509253   ⟹   XP_011507555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,581,361 - 156,587,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509254   ⟹   XP_011507556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,581,361 - 156,587,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509255   ⟹   XP_011507557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,581,361 - 156,587,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447969   ⟹   XP_047303925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,581,361 - 156,587,719 (+)NCBI
RefSeq Acc Id: XM_047447971   ⟹   XP_047303927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,581,361 - 156,587,719 (+)NCBI
RefSeq Acc Id: XM_047447973   ⟹   XP_047303929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,581,361 - 156,587,719 (+)NCBI
RefSeq Acc Id: XM_047447975   ⟹   XP_047303931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,581,361 - 156,586,038 (+)NCBI
RefSeq Acc Id: XM_047447977   ⟹   XP_047303933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,581,361 - 156,587,719 (+)NCBI
RefSeq Acc Id: XM_054334784   ⟹   XP_054190759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,717,729 - 155,724,087 (+)NCBI
RefSeq Acc Id: XM_054334785   ⟹   XP_054190760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,717,729 - 155,724,087 (+)NCBI
RefSeq Acc Id: XM_054334786   ⟹   XP_054190761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,717,729 - 155,724,195 (+)NCBI
RefSeq Acc Id: XM_054334787   ⟹   XP_054190762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,717,729 - 155,724,087 (+)NCBI
RefSeq Acc Id: XM_054334788   ⟹   XP_054190763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,717,729 - 155,724,087 (+)NCBI
RefSeq Acc Id: XM_054334789   ⟹   XP_054190764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,717,729 - 155,724,087 (+)NCBI
RefSeq Acc Id: XM_054334790   ⟹   XP_054190765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,717,729 - 155,722,406 (+)NCBI
RefSeq Acc Id: XM_054334791   ⟹   XP_054190766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,717,729 - 155,724,193 (+)NCBI
RefSeq Acc Id: XR_008485940
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,717,729 - 155,724,008 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001099139 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507555 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507556 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507557 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303925 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303927 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303929 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303931 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303933 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188810 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188811 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188812 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188813 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188814 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188815 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190759 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190760 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190761 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190762 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190763 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190764 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190765 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190766 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A2A3L6 (Get FASTA)   NCBI Sequence Viewer  
  EAW52944 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000357219
  ENSP00000357219.3
  ENSP00000517290.1
RefSeq Acc Id: NP_001099139   ⟸   NM_001105669
- UniProtKB: Q5T3H7 (UniProtKB/Swiss-Prot),   A2A3L6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011507555   ⟸   XM_011509253
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011507557   ⟸   XM_011509255
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011507556   ⟸   XM_011509254
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000357219   ⟸   ENST00000368236
RefSeq Acc Id: XP_047303925   ⟸   XM_047447969
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047303929   ⟸   XM_047447973
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047303927   ⟸   XM_047447971
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047303933   ⟸   XM_047447977
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047303931   ⟸   XM_047447975
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054190761   ⟸   XM_054334786
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054190766   ⟸   XM_054334791
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054190759   ⟸   XM_054334784
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190762   ⟸   XM_054334787
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190764   ⟸   XM_054334789
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054190760   ⟸   XM_054334785
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190763   ⟸   XM_054334788
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190765   ⟸   XM_054334790
- Peptide Label: isoform X7

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A2A3L6-F1-model_v2 AlphaFold A2A3L6 1-582 view protein structure

Promoters
RGD ID:6785382
Promoter ID:HG_KWN:5538
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000340086,   ENST00000368236,   OTTHUMT00000081025,   OTTHUMT00000081026,   OTTHUMT00000081027,   UC009WSC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,818,331 - 154,818,832 (+)MPROMDB
RGD ID:6787089
Promoter ID:HG_KWN:5539
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000081028
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,820,331 - 154,820,831 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32348 AgrOrtholog
COSMIC TTC24 COSMIC
Ensembl Genes ENSG00000187862 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000291760 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368236 ENTREZGENE
  ENST00000368236.8 UniProtKB/Swiss-Prot
  ENST00000708590.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000187862 GTEx
  ENSG00000291760 GTEx
HGNC ID HGNC:32348 ENTREZGENE
Human Proteome Map TTC24 Human Proteome Map
InterPro TPR-like_helical_dom_sf UniProtKB/Swiss-Prot
  TPR_24 UniProtKB/Swiss-Prot
  TPR_repeat UniProtKB/Swiss-Prot
KEGG Report hsa:164118 UniProtKB/Swiss-Prot
NCBI Gene 164118 ENTREZGENE
PANTHER PTHR47050 UniProtKB/Swiss-Prot
  TETRATRICOPEPTIDE REPEAT PROTEIN 24 UniProtKB/Swiss-Prot
Pfam TPR_12 UniProtKB/Swiss-Prot
  TPR_7 UniProtKB/Swiss-Prot
PharmGKB PA142670676 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot
  TPR_REGION UniProtKB/Swiss-Prot
SMART TPR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot
UniProt A2A3L6 ENTREZGENE
  Q5T3H7 ENTREZGENE
  TTC24_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5T3H7 UniProtKB/Swiss-Prot