TTC23L (tetratricopeptide repeat domain 23 like) - Rat Genome Database

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Gene: TTC23L (tetratricopeptide repeat domain 23 like) Homo sapiens
Analyze
Symbol: TTC23L
Name: tetratricopeptide repeat domain 23 like
RGD ID: 1603175
HGNC Page HGNC:26355
Description: Predicted to be located in cytoplasm; microtubule cytoskeleton; and midbody.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ25439; MC25-1; tetratricopeptide repeat domain 23-like; tetratricopeptide repeat protein 23-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38534,839,164 - 34,925,682 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl534,838,833 - 34,900,511 (+)EnsemblGRCh38hg38GRCh38
GRCh37534,839,269 - 34,925,787 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36534,875,026 - 34,935,324 (+)NCBINCBI36Build 36hg18NCBI36
Celera534,721,072 - 34,781,799 (+)NCBICelera
Cytogenetic Map5p13.2NCBI
HuRef534,787,782 - 34,847,729 (+)NCBIHuRef
CHM1_1534,841,468 - 34,901,927 (+)NCBICHM1_1
T2T-CHM13v2.0535,086,287 - 35,172,714 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
centrosome  (IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
midbody  (IEA)
spindle  (IEA)

Molecular Function

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
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:17207965   PMID:18976975   PMID:20379614   PMID:21516116   PMID:21873635   PMID:22458338   PMID:24722188   PMID:25416956   PMID:25751302   PMID:26186194  
PMID:28514442   PMID:29426014   PMID:32296183   PMID:32814053   PMID:33961781   PMID:36217029  


Genomics

Comparative Map Data
TTC23L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38534,839,164 - 34,925,682 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl534,838,833 - 34,900,511 (+)EnsemblGRCh38hg38GRCh38
GRCh37534,839,269 - 34,925,787 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36534,875,026 - 34,935,324 (+)NCBINCBI36Build 36hg18NCBI36
Celera534,721,072 - 34,781,799 (+)NCBICelera
Cytogenetic Map5p13.2NCBI
HuRef534,787,782 - 34,847,729 (+)NCBIHuRef
CHM1_1534,841,468 - 34,901,927 (+)NCBICHM1_1
T2T-CHM13v2.0535,086,287 - 35,172,714 (+)NCBIT2T-CHM13v2.0
Ttc23l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391510,497,309 - 10,559,006 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1510,500,188 - 10,558,754 (-)EnsemblGRCm39 Ensembl
GRCm381510,497,223 - 10,558,775 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1510,500,102 - 10,558,668 (-)EnsemblGRCm38mm10GRCm38
MGSCv371510,433,702 - 10,488,423 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361510,444,827 - 10,504,789 (-)NCBIMGSCv36mm8
Celera1510,305,843 - 10,360,380 (-)NCBICelera
Cytogenetic Map15A1NCBI
cM Map155.35NCBI
Ttc23l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8261,203,825 - 61,265,453 (-)NCBIGRCr8
mRatBN7.2259,476,666 - 59,538,313 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl259,476,669 - 59,538,282 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0260,492,314 - 60,538,551 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl260,492,256 - 60,538,088 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0284,136,482 - 84,197,625 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4259,857,877 - 59,916,848 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera259,134,717 - 59,197,145 (+)NCBICelera
Cytogenetic Map2q16NCBI
Ttc23l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542619,987,093 - 20,020,364 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542619,985,179 - 20,029,902 (+)NCBIChiLan1.0ChiLan1.0
TTC23L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2475,436,262 - 75,499,618 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1573,584,931 - 73,653,250 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0575,470,535 - 75,532,771 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1580,750,710 - 80,810,923 (-)NCBIpanpan1.1PanPan1.1panPan2
TTC23L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1473,395,974 - 73,455,567 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl473,400,166 - 73,453,498 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha473,012,406 - 73,071,821 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0473,901,731 - 73,961,222 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl473,904,118 - 73,959,170 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1473,649,284 - 73,708,403 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0473,772,742 - 73,831,929 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0474,305,963 - 74,365,826 (-)NCBIUU_Cfam_GSD_1.0
Ttc23l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213224,663,609 - 224,721,156 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365186,641,805 - 6,706,937 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TTC23L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1620,443,661 - 20,478,632 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11620,441,253 - 20,491,569 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21621,343,863 - 21,402,683 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TTC23L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1433,732,841 - 33,793,975 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl433,739,203 - 33,783,489 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607124,031,988 - 24,085,744 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ttc23l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475920,022,653 - 20,052,817 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TTC23L
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1 copy number loss See cases [RCV000053449] Chr5:30149035..35213678 [GRCh38]
Chr5:30149142..35213780 [GRCh37]
Chr5:30184899..35249537 [NCBI36]
Chr5:5p13.3-13.2
pathogenic
NM_144725.3(TTC23L):c.379+1292G>A single nucleotide variant Lung cancer [RCV000095878] Chr5:34851600 [GRCh38]
Chr5:34851705 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12
pathogenic
GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1 copy number loss See cases [RCV000135667] Chr5:30961310..36143306 [GRCh38]
Chr5:30961417..36143408 [GRCh37]
Chr5:30997174..36179165 [NCBI36]
Chr5:5p13.3-13.2
likely pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2
pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11
likely 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 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002853.4(RAD1):c.607T>G (p.Tyr203Asp) single nucleotide variant Inborn genetic diseases [RCV003255010] Chr5:34909316 [GRCh38]
Chr5:34909421 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.491G>A (p.Arg164His) single nucleotide variant Inborn genetic diseases [RCV003253616] Chr5:34911629 [GRCh38]
Chr5:34911734 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12
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 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12
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
NM_144725.4(TTC23L):c.341C>T (p.Ala114Val) single nucleotide variant Inborn genetic diseases [RCV003270622] Chr5:34850270 [GRCh38]
Chr5:34850375 [GRCh37]
Chr5:5p13.2
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11
pathogenic
NM_144725.4(TTC23L):c.397A>G (p.Lys133Glu) single nucleotide variant Inborn genetic diseases [RCV003246218] Chr5:34862915 [GRCh38]
Chr5:34863020 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_33944753)_(39364566_?)dup duplication not provided [RCV003107632] Chr5:33944753..39364566 [GRCh37]
Chr5:5p13.2-13.1
uncertain significance
NM_002853.4(RAD1):c.783T>C (p.Asp261=) single nucleotide variant not provided [RCV000940674] Chr5:34908831 [GRCh38]
Chr5:34908936 [GRCh37]
Chr5:5p13.2
likely benign
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11
pathogenic
NC_000005.9:g.(?_33944753)_(35089722_?)dup duplication Alpha-methylacyl-CoA racemase deficiency [RCV001946089] Chr5:33944753..35089722 [GRCh37]
Chr5:5p13.2
uncertain significance
NC_000005.9:g.(?_34007858)_(34935958_?)dup duplication Alpha-methylacyl-CoA racemase deficiency [RCV001943057] Chr5:34007858..34935958 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11
pathogenic
NM_144725.4(TTC23L):c.902C>A (p.Ala301Glu) single nucleotide variant Inborn genetic diseases [RCV002839713] Chr5:34868966 [GRCh38]
Chr5:34869071 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.809G>T (p.Arg270Ile) single nucleotide variant Inborn genetic diseases [RCV002863983] Chr5:34925242 [GRCh38]
Chr5:34925347 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.816C>A (p.Asn272Lys) single nucleotide variant Inborn genetic diseases [RCV002865932] Chr5:34867045 [GRCh38]
Chr5:34867150 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.32G>A (p.Gly11Asp) single nucleotide variant Inborn genetic diseases [RCV002689925] Chr5:34915770 [GRCh38]
Chr5:34915875 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.149A>G (p.Lys50Arg) single nucleotide variant Inborn genetic diseases [RCV002694596] Chr5:34914744 [GRCh38]
Chr5:34914849 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.776A>G (p.Glu259Gly) single nucleotide variant Inborn genetic diseases [RCV002782076] Chr5:34867005 [GRCh38]
Chr5:34867110 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.221C>T (p.Thr74Ile) single nucleotide variant Inborn genetic diseases [RCV002694452] Chr5:34918425 [GRCh38]
Chr5:34918530 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.218C>A (p.Ser73Tyr) single nucleotide variant Inborn genetic diseases [RCV002869683] Chr5:34845636 [GRCh38]
Chr5:34845741 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.359C>T (p.Ala120Val) single nucleotide variant Inborn genetic diseases [RCV002783070] Chr5:34922260 [GRCh38]
Chr5:34922365 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.521G>A (p.Ser174Asn) single nucleotide variant Inborn genetic diseases [RCV002661117] Chr5:34911599 [GRCh38]
Chr5:34911704 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.79G>A (p.Glu27Lys) single nucleotide variant Inborn genetic diseases [RCV002661985] Chr5:34915817 [GRCh38]
Chr5:34915922 [GRCh37]
Chr5:5p13.2
likely benign
NM_002853.4(RAD1):c.244T>C (p.Phe82Leu) single nucleotide variant Inborn genetic diseases [RCV002744476] Chr5:34913533 [GRCh38]
Chr5:34913638 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.479A>G (p.Lys160Arg) single nucleotide variant Inborn genetic diseases [RCV002641341] Chr5:34922737 [GRCh38]
Chr5:34922842 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.218C>T (p.Ser73Phe) single nucleotide variant Inborn genetic diseases [RCV002743544] Chr5:34845636 [GRCh38]
Chr5:34845741 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.970G>C (p.Glu324Gln) single nucleotide variant Inborn genetic diseases [RCV002697123] Chr5:34925403 [GRCh38]
Chr5:34925508 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.551A>T (p.Asp184Val) single nucleotide variant Inborn genetic diseases [RCV002764494] Chr5:34911569 [GRCh38]
Chr5:34911674 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.634G>A (p.Asp212Asn) single nucleotide variant Inborn genetic diseases [RCV002929523] Chr5:34923205 [GRCh38]
Chr5:34923310 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.790A>G (p.Ile264Val) single nucleotide variant Inborn genetic diseases [RCV002764263] Chr5:34908824 [GRCh38]
Chr5:34908929 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.107C>A (p.Ala36Glu) single nucleotide variant Inborn genetic diseases [RCV002892657] Chr5:34915845 [GRCh38]
Chr5:34915950 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.422A>G (p.Glu141Gly) single nucleotide variant Inborn genetic diseases [RCV002718466] Chr5:34911698 [GRCh38]
Chr5:34911803 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.374A>G (p.Glu125Gly) single nucleotide variant Inborn genetic diseases [RCV002748215] Chr5:34911746 [GRCh38]
Chr5:34911851 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.869C>T (p.Thr290Ile) single nucleotide variant Inborn genetic diseases [RCV002960970] Chr5:34868933 [GRCh38]
Chr5:34869038 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.746G>A (p.Gly249Glu) single nucleotide variant Inborn genetic diseases [RCV002670036] Chr5:34924929 [GRCh38]
Chr5:34925034 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.841G>T (p.Ala281Ser) single nucleotide variant Inborn genetic diseases [RCV003196162] Chr5:34868905 [GRCh38]
Chr5:34869010 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.44T>A (p.Ile15Asn) single nucleotide variant Inborn genetic diseases [RCV003193455] Chr5:34840715 [GRCh38]
Chr5:34840820 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.287G>A (p.Cys96Tyr) single nucleotide variant Inborn genetic diseases [RCV003183139] Chr5:34850216 [GRCh38]
Chr5:34850321 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.51G>C (p.Trp17Cys) single nucleotide variant Inborn genetic diseases [RCV003213105] Chr5:34840722 [GRCh38]
Chr5:34840827 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.365A>T (p.Tyr122Phe) single nucleotide variant Inborn genetic diseases [RCV003217752] Chr5:34850294 [GRCh38]
Chr5:34850399 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.283G>T (p.Asp95Tyr) single nucleotide variant Inborn genetic diseases [RCV003195423] Chr5:34919851 [GRCh38]
Chr5:34919956 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.692T>C (p.Leu231Pro) single nucleotide variant Inborn genetic diseases [RCV003199698] Chr5:34866921 [GRCh38]
Chr5:34867026 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.518C>G (p.Thr173Arg) single nucleotide variant Inborn genetic diseases [RCV003220014] Chr5:34911602 [GRCh38]
Chr5:34911707 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_018321.4(BRIX1):c.566T>G (p.Phe189Cys) single nucleotide variant Inborn genetic diseases [RCV003200250] Chr5:34923137 [GRCh38]
Chr5:34923242 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_144725.4(TTC23L):c.791T>C (p.Ile264Thr) single nucleotide variant Inborn genetic diseases [RCV003340055] Chr5:34867020 [GRCh38]
Chr5:34867125 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.403A>C (p.Asn135His) single nucleotide variant Inborn genetic diseases [RCV003365166] Chr5:34911717 [GRCh38]
Chr5:34911822 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12
likely pathogenic
NM_002853.4(RAD1):c.325C>T (p.Arg109Ter) single nucleotide variant RAD1-related condition [RCV003408579] Chr5:34911795 [GRCh38]
Chr5:34911900 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.467T>C (p.Ile156Thr) single nucleotide variant RAD1-related condition [RCV003405956] Chr5:34911653 [GRCh38]
Chr5:34911758 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_002853.4(RAD1):c.326G>A (p.Arg109Gln) single nucleotide variant RAD1-related condition [RCV003400326] Chr5:34911794 [GRCh38]
Chr5:34911899 [GRCh37]
Chr5:5p13.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2197
Count of miRNA genes:1109
Interacting mature miRNAs:1328
Transcripts:ENST00000502674, ENST00000502782, ENST00000505624, ENST00000506758, ENST00000508377, ENST00000508722, ENST00000514080
Prediction methods:Microtar, 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.

Markers in Region
WI-11211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37534,886,680 - 34,886,899UniSTSGRCh37
Build 36534,922,437 - 34,922,656RGDNCBI36
Celera534,768,912 - 34,769,131RGD
Cytogenetic Map5p13.2UniSTS
HuRef534,834,838 - 34,835,057UniSTS
Whitehead-RH Map5134.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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
High
Medium 1 2 331 1 1
Low 70 284 1170 145 67 32 1808 33 2075 156 581 949 115 11 1278 2
Below cutoff 2280 2142 518 444 1085 400 2381 1946 1649 245 525 640 58 1 1139 1365 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY498865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX088767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN799997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000502674   ⟹   ENSP00000425242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,840,672 - 34,896,778 (+)Ensembl
RefSeq Acc Id: ENST00000502782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,838,833 - 34,863,010 (+)Ensembl
RefSeq Acc Id: ENST00000505624   ⟹   ENSP00000422188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,839,164 - 34,900,511 (+)Ensembl
RefSeq Acc Id: ENST00000506758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,839,164 - 34,863,023 (+)Ensembl
RefSeq Acc Id: ENST00000508377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,839,214 - 34,845,713 (+)Ensembl
RefSeq Acc Id: ENST00000508722   ⟹   ENSP00000424418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,839,166 - 34,869,849 (+)Ensembl
RefSeq Acc Id: ENST00000514080   ⟹   ENSP00000497109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,840,672 - 34,896,851 (+)Ensembl
RefSeq Acc Id: ENST00000610313   ⟹   ENSP00000484792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,840,672 - 34,880,313 (+)Ensembl
RefSeq Acc Id: ENST00000638320   ⟹   ENSP00000491000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,839,223 - 34,880,308 (+)Ensembl
RefSeq Acc Id: ENST00000698543   ⟹   ENSP00000513788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,839,164 - 34,899,456 (+)Ensembl
RefSeq Acc Id: NM_001317949   ⟹   NP_001304878
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,381 - 34,900,511 (+)NCBI
CHM1_1534,841,928 - 34,902,976 (+)NCBI
T2T-CHM13v2.0535,086,504 - 35,147,547 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386169   ⟹   NP_001373098
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,881,605 (+)NCBI
T2T-CHM13v2.0535,086,287 - 35,128,629 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386170   ⟹   NP_001373099
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,905,813 (+)NCBI
T2T-CHM13v2.0535,086,287 - 35,152,846 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386171   ⟹   NP_001373100
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,381 - 34,903,132 (+)NCBI
T2T-CHM13v2.0535,086,504 - 35,150,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386172   ⟹   NP_001373101
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,899,462 (+)NCBI
T2T-CHM13v2.0535,086,287 - 35,146,498 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144725   ⟹   NP_653326
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,900,511 (+)NCBI
GRCh37534,839,269 - 34,899,567 (+)RGD
Build 36534,875,026 - 34,935,324 (+)NCBI Archive
Celera534,721,072 - 34,781,799 (+)RGD
HuRef534,787,782 - 34,847,729 (+)ENTREZGENE
CHM1_1534,841,468 - 34,901,927 (+)NCBI
T2T-CHM13v2.0535,086,287 - 35,147,547 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169874
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,899,462 (+)NCBI
T2T-CHM13v2.0535,086,287 - 35,146,498 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169875
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,925,682 (+)NCBI
T2T-CHM13v2.0535,086,287 - 35,172,714 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169876
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,381 - 34,925,682 (+)NCBI
T2T-CHM13v2.0535,086,504 - 35,172,714 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513984   ⟹   XP_011512286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,900,511 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513985   ⟹   XP_011512287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,881,605 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513987   ⟹   XP_011512289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,869,849 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009119   ⟹   XP_016864608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,381 - 34,900,511 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009120   ⟹   XP_016864609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,900,511 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009121   ⟹   XP_016864610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,273 - 34,900,511 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009122   ⟹   XP_016864611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,381 - 34,900,511 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009123   ⟹   XP_016864612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,871,034 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009124   ⟹   XP_016864613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,381 - 34,900,511 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009126   ⟹   XP_016864615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,381 - 34,900,511 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416824   ⟹   XP_047272780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,903,132 (+)NCBI
RefSeq Acc Id: XM_047416825   ⟹   XP_047272781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,381 - 34,869,849 (+)NCBI
RefSeq Acc Id: XM_047416826   ⟹   XP_047272782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,869,849 (+)NCBI
RefSeq Acc Id: XM_054351823   ⟹   XP_054207798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,287 - 35,147,547 (+)NCBI
RefSeq Acc Id: XM_054351824   ⟹   XP_054207799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,287 - 35,146,498 (+)NCBI
RefSeq Acc Id: XM_054351825   ⟹   XP_054207800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,504 - 35,147,547 (+)NCBI
RefSeq Acc Id: XM_054351826   ⟹   XP_054207801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,287 - 35,147,547 (+)NCBI
RefSeq Acc Id: XM_054351827   ⟹   XP_054207802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,396 - 35,147,547 (+)NCBI
RefSeq Acc Id: XM_054351828   ⟹   XP_054207803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,550 - 35,147,547 (+)NCBI
RefSeq Acc Id: XM_054351829   ⟹   XP_054207804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,287 - 35,128,629 (+)NCBI
RefSeq Acc Id: XM_054351830   ⟹   XP_054207805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,287 - 35,118,057 (+)NCBI
RefSeq Acc Id: XM_054351831   ⟹   XP_054207806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,504 - 35,147,547 (+)NCBI
RefSeq Acc Id: XM_054351832   ⟹   XP_054207807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,287 - 35,116,872 (+)NCBI
RefSeq Acc Id: XM_054351833   ⟹   XP_054207808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,504 - 35,116,872 (+)NCBI
RefSeq Acc Id: XM_054351834   ⟹   XP_054207809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,287 - 35,116,872 (+)NCBI
RefSeq Acc Id: XM_054351835   ⟹   XP_054207810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,086,547 - 35,147,547 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001304878 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373098 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373099 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373100 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373101 (Get FASTA)   NCBI Sequence Viewer  
  NP_653326 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512286 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512287 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512289 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864608 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864609 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864610 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864611 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864612 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864613 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864615 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272780 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272781 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272782 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207798 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207799 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207800 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207801 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207810 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH57775 (Get FASTA)   NCBI Sequence Viewer  
  AAR92152 (Get FASTA)   NCBI Sequence Viewer  
  AER93257 (Get FASTA)   NCBI Sequence Viewer  
  BAB71699 (Get FASTA)   NCBI Sequence Viewer  
  BAG57232 (Get FASTA)   NCBI Sequence Viewer  
  EAW55900 (Get FASTA)   NCBI Sequence Viewer  
  EAW55901 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000422188
  ENSP00000422188.1
  ENSP00000424418.1
  ENSP00000425242.1
  ENSP00000484792
  ENSP00000484792.1
  ENSP00000491000
  ENSP00000491000.1
  ENSP00000497109
  ENSP00000497109.1
  ENSP00000513788
  ENSP00000513788.1
GenBank Protein Q6PF05 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_653326   ⟸   NM_144725
- Peptide Label: isoform 2
- UniProtKB: Q8N7R3 (UniProtKB/Swiss-Prot),   Q6RGS4 (UniProtKB/Swiss-Prot),   G8IJH6 (UniProtKB/Swiss-Prot),   Q96LJ2 (UniProtKB/Swiss-Prot),   Q6PF05 (UniProtKB/Swiss-Prot),   A0A1W2PP54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512286   ⟸   XM_011513984
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IS63 (UniProtKB/TrEMBL),   A0A1W2PP54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512287   ⟸   XM_011513985
- Peptide Label: isoform X3
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512289   ⟸   XM_011513987
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001304878   ⟸   NM_001317949
- Peptide Label: isoform 1
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864609   ⟸   XM_017009120
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IS63 (UniProtKB/TrEMBL),   A0A1W2PP54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864612   ⟸   XM_017009123
- Peptide Label: isoform X4
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864610   ⟸   XM_017009121
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IS63 (UniProtKB/TrEMBL),   A0A1W2PP54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864613   ⟸   XM_017009124
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016864615   ⟸   XM_017009126
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016864608   ⟸   XM_017009119
- Peptide Label: isoform X2
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864611   ⟸   XM_017009122
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IS63 (UniProtKB/TrEMBL),   A0A1W2PP54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000425242   ⟸   ENST00000502674
RefSeq Acc Id: ENSP00000422188   ⟸   ENST00000505624
RefSeq Acc Id: ENSP00000491000   ⟸   ENST00000638320
RefSeq Acc Id: ENSP00000484792   ⟸   ENST00000610313
RefSeq Acc Id: ENSP00000424418   ⟸   ENST00000508722
RefSeq Acc Id: ENSP00000497109   ⟸   ENST00000514080
RefSeq Acc Id: NP_001373099   ⟸   NM_001386170
- Peptide Label: isoform 4
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373101   ⟸   NM_001386172
- Peptide Label: isoform 2
- UniProtKB: Q8N7R3 (UniProtKB/Swiss-Prot),   Q6RGS4 (UniProtKB/Swiss-Prot),   Q6PF05 (UniProtKB/Swiss-Prot),   G8IJH6 (UniProtKB/Swiss-Prot),   Q96LJ2 (UniProtKB/Swiss-Prot),   A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373098   ⟸   NM_001386169
- Peptide Label: isoform 3
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373100   ⟸   NM_001386171
- Peptide Label: isoform 5
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272780   ⟸   XM_047416824
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IS63 (UniProtKB/TrEMBL),   A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272782   ⟸   XM_047416826
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047272781   ⟸   XM_047416825
- Peptide Label: isoform X7
RefSeq Acc Id: ENSP00000513788   ⟸   ENST00000698543
RefSeq Acc Id: XP_054207801   ⟸   XM_054351826
- Peptide Label: isoform X1
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207798   ⟸   XM_054351823
- Peptide Label: isoform X1
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207799   ⟸   XM_054351824
- Peptide Label: isoform X1
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207804   ⟸   XM_054351829
- Peptide Label: isoform X3
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207805   ⟸   XM_054351830
- Peptide Label: isoform X4
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207809   ⟸   XM_054351834
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054207807   ⟸   XM_054351832
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054207802   ⟸   XM_054351827
- Peptide Label: isoform X1
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207800   ⟸   XM_054351825
- Peptide Label: isoform X2
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207806   ⟸   XM_054351831
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054207808   ⟸   XM_054351833
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054207810   ⟸   XM_054351835
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054207803   ⟸   XM_054351828
- Peptide Label: isoform X1
- UniProtKB: A0A1W2PP54 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PF05-F1-model_v2 AlphaFold Q6PF05 1-361 view protein structure

Promoters
RGD ID:6869354
Promoter ID:EPDNEW_H7842
Type:initiation region
Name:TTC23L_1
Description:tetratricopeptide repeat domain 23 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,839,164 - 34,839,224EPDNEW
RGD ID:6803123
Promoter ID:HG_KWN:49938
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000382046,   ENST00000399700,   NM_144725
Position:
Human AssemblyChrPosition (strand)Source
Build 36534,874,801 - 34,875,337 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26355 AgrOrtholog
COSMIC TTC23L COSMIC
Ensembl Genes ENSG00000205838 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000502674.5 UniProtKB/Swiss-Prot
  ENST00000505624 ENTREZGENE
  ENST00000505624.6 UniProtKB/Swiss-Prot
  ENST00000508722.5 UniProtKB/TrEMBL
  ENST00000514080 ENTREZGENE
  ENST00000514080.2 UniProtKB/TrEMBL
  ENST00000610313 ENTREZGENE
  ENST00000610313.1 UniProtKB/Swiss-Prot
  ENST00000638320 ENTREZGENE
  ENST00000638320.2 UniProtKB/TrEMBL
  ENST00000698543 ENTREZGENE
  ENST00000698543.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000205838 GTEx
HGNC ID HGNC:26355 ENTREZGENE
Human Proteome Map TTC23L Human Proteome Map
InterPro TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TTC23/TTC23L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:153657 UniProtKB/Swiss-Prot
NCBI Gene 153657 ENTREZGENE
OMIM 616344 OMIM
PANTHER PTHR14485 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TETRATRICOPEPTIDE REPEAT PROTEIN 23-LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162407169 PharmGKB
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PP54 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IS63 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TME1_HUMAN UniProtKB/TrEMBL
  D6RB54_HUMAN UniProtKB/TrEMBL
  G8IJH6 ENTREZGENE
  Q6PF05 ENTREZGENE
  Q6RGS4 ENTREZGENE
  Q8N7R3 ENTREZGENE
  Q96LJ2 ENTREZGENE
  TT23L_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary G8IJH6 UniProtKB/Swiss-Prot
  Q6RGS4 UniProtKB/Swiss-Prot
  Q8N7R3 UniProtKB/Swiss-Prot
  Q96LJ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TTC23L  tetratricopeptide repeat domain 23 like    tetratricopeptide repeat domain 23-like  Symbol and/or name change 5135510 APPROVED