CFAP126 (cilia and flagella associated protein 126) - Rat Genome Database

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Gene: CFAP126 (cilia and flagella associated protein 126) Homo sapiens
Analyze
Symbol: CFAP126
Name: cilia and flagella associated protein 126
RGD ID: 1604188
HGNC Page HGNC:32325
Description: Predicted to be involved in cilium organization. Located in axonemal microtubule.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C1orf192; cilia- and flagella-associated protein 126; Flattop; Fltp; hypothetical protein LOC257177; UPF0740 protein C1orf192
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
GRCh381161,364,733 - 161,367,876 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,364,733 - 161,367,876 (-)EnsemblGRCh38hg38GRCh38
GRCh371161,334,523 - 161,337,666 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,601,145 - 159,604,288 (-)NCBINCBI36Build 36hg18NCBI36
Celera1134,401,651 - 134,404,794 (-)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1132,691,299 - 132,694,451 (-)NCBIHuRef
CHM1_11162,730,776 - 162,733,928 (-)NCBICHM1_1
T2T-CHM13v2.01160,502,177 - 160,505,320 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:17213182   PMID:21873635   PMID:22275255   PMID:25296022   PMID:36191189   PMID:36724073  


Genomics

Comparative Map Data
CFAP126
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,364,733 - 161,367,876 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,364,733 - 161,367,876 (-)EnsemblGRCh38hg38GRCh38
GRCh371161,334,523 - 161,337,666 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,601,145 - 159,604,288 (-)NCBINCBI36Build 36hg18NCBI36
Celera1134,401,651 - 134,404,794 (-)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1132,691,299 - 132,694,451 (-)NCBIHuRef
CHM1_11162,730,776 - 162,733,928 (-)NCBICHM1_1
T2T-CHM13v2.01160,502,177 - 160,505,320 (-)NCBIT2T-CHM13v2.0
Cfap126
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391170,941,326 - 170,954,525 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1170,941,487 - 170,954,536 (+)EnsemblGRCm39 Ensembl
GRCm381171,113,912 - 171,126,956 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1171,113,918 - 171,126,967 (+)EnsemblGRCm38mm10GRCm38
MGSCv371173,051,792 - 173,057,098 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361172,958,336 - 172,963,642 (+)NCBIMGSCv36mm8
Celera1173,571,178 - 173,576,544 (+)NCBICelera
Cytogenetic Map1H3NCBI
cM Map178.96NCBI
Cfap126
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81386,059,142 - 86,075,034 (+)NCBIGRCr8
mRatBN7.21383,526,657 - 83,542,552 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1383,526,657 - 83,542,552 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1386,032,342 - 86,048,294 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01387,430,580 - 87,446,530 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01384,662,280 - 84,678,253 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01389,480,058 - 89,495,949 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1389,480,058 - 89,495,949 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01394,107,559 - 94,123,450 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41386,995,646 - 87,012,470 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1383,158,501 - 83,174,105 (+)NCBICelera
Cytogenetic Map13q24NCBI
Cfap126
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495546813,085,324 - 13,088,022 (-)NCBIChiLan1.0ChiLan1.0
CFAP126
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2188,486,728 - 88,489,867 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1188,176,991 - 88,180,459 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01136,774,574 - 136,777,713 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11140,684,924 - 140,686,571 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1140,685,157 - 140,688,063 (-)Ensemblpanpan1.1panPan2
CFAP126
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13821,158,212 - 21,176,889 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3821,158,108 - 21,161,261 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3821,232,675 - 21,251,341 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03821,275,553 - 21,294,210 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3821,275,466 - 21,278,618 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13821,172,675 - 21,191,256 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03821,578,927 - 21,581,942 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03821,986,919 - 22,005,579 (+)NCBIUU_Cfam_GSD_1.0
Cfap126
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050587,430,450 - 7,433,655 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936903638,391 - 642,241 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CFAP126
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl489,120,477 - 89,133,039 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1489,108,048 - 89,133,525 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2496,964,842 - 96,990,454 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CFAP126
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1202,608,511 - 2,612,088 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl202,608,942 - 2,611,852 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660381,665,794 - 1,670,890 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cfap126
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479421,878 - 53,363 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CFAP126
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1		 pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2		 pathogenic
NM_001013625.3(CFAP126):c.479G>A (p.Ser160Asn) single nucleotide variant Malignant melanoma [RCV000064272] Chr1:161365020 [GRCh38]
Chr1:161334810 [GRCh37]
Chr1:159601434 [NCBI36]
Chr1:1q23.3		 not provided
NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA indel Paragangliomas 3 [RCV000007665] Chr1:161367196..161370200 [GRCh38]
Chr1:161336986..161339990 [GRCh37]
Chr1:1q23.3		 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
NM_001013625.4(CFAP126):c.*221del deletion Pheochromocytoma [RCV000301880] Chr1:161364744 [GRCh38]
Chr1:161334534 [GRCh37]
Chr1:1q23.3		 benign
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
NM_001013625.4(CFAP126):c.251G>A (p.Arg84His) single nucleotide variant Inborn genetic diseases [RCV003262559] Chr1:161365623 [GRCh38]
Chr1:161335413 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161224742-161414959)x3 copy number gain not provided [RCV000684666] Chr1:161224742..161414959 [GRCh37]
Chr1:1q23.3		 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
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2		 pathogenic
NM_001035511.2(SDHC):c.242-408_*4118del deletion not provided [RCV000759345] Chr1:161361920..161366657 [GRCh38]
Chr1:161331710..161336447 [GRCh37]
Chr1:1q23.3		 pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1		 pathogenic
GRCh37/hg19 1q23.3(chr1:161257930-161344485)x3 copy number gain not provided [RCV000846252] Chr1:161257930..161344485 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161318918-161409086)x3 copy number gain not provided [RCV000849816] Chr1:161318918..161409086 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161311205-161391976)x3 copy number gain not provided [RCV000849363] Chr1:161311205..161391976 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 copy number gain not provided [RCV000849025] Chr1:160744174..162583871 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161213062-161437757)x3 copy number gain not provided [RCV000849990] Chr1:161213062..161437757 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3 copy number gain not provided [RCV000848107] Chr1:161134612..161422225 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3 copy number gain not provided [RCV001005146] Chr1:161134675..161652307 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161304738-161448993)x3 copy number gain not provided [RCV000847234] Chr1:161304738..161448993 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2		 pathogenic
NM_001013625.4(CFAP126):c.250C>T (p.Arg84Cys) single nucleotide variant Inborn genetic diseases [RCV003266298] Chr1:161365624 [GRCh38]
Chr1:161335414 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161224742-161429290)x3 copy number gain See cases [RCV002285067] Chr1:161224742..161429290 [GRCh37]
Chr1:1q23.3		 pathogenic
NM_001013625.4(CFAP126):c.233G>T (p.Arg78Leu) single nucleotide variant not specified [RCV003320525] Chr1:161365641 [GRCh38]
Chr1:161335431 [GRCh37]
Chr1:1q23.3		 likely benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161279433-161385237)x1 copy number loss not provided [RCV001795857] Chr1:161279433..161385237 [GRCh37]
Chr1:1q23.3		 pathogenic
GRCh37/hg19 1q23.3(chr1:161207984-161404272) copy number gain not specified [RCV002053669] Chr1:161207984..161404272 [GRCh37]
Chr1:1q23.3		 likely pathogenic
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) copy number loss not specified [RCV002053658] Chr1:160417296..166197042 [GRCh37]
Chr1:1q23.2-24.1		 pathogenic
GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3 copy number gain not provided [RCV001829131] Chr1:160859558..161409185 [GRCh37]
Chr1:1q23.3		 likely pathogenic
NC_000001.10:g.(?_158581054)_(162750036_?)dup duplication Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3		 uncertain significance|no classifications from unflagged records
NC_000001.10:g.(?_161279609)_(161751809_?)dup duplication Charcot-Marie-Tooth disease, type I [RCV003111375] Chr1:161279609..161751809 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161216755-161409359)x3 copy number gain not provided [RCV002291531] Chr1:161216755..161409359 [GRCh37]
Chr1:1q23.3		 likely pathogenic
GRCh37/hg19 1q23.3(chr1:161207985-161437998)x3 copy number gain not provided [RCV002473787] Chr1:161207985..161437998 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161333248-161380335)x1 copy number loss not provided [RCV002472788] Chr1:161333248..161380335 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161299064-161414959)x3 copy number gain not provided [RCV002472461] Chr1:161299064..161414959 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001013625.4(CFAP126):c.169A>C (p.Lys57Gln) single nucleotide variant Inborn genetic diseases [RCV002777707] Chr1:161366200 [GRCh38]
Chr1:161335990 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001013625.4(CFAP126):c.136C>T (p.Arg46Cys) single nucleotide variant Inborn genetic diseases [RCV002660760] Chr1:161366233 [GRCh38]
Chr1:161336023 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001013625.4(CFAP126):c.226C>A (p.Pro76Thr) single nucleotide variant Inborn genetic diseases [RCV002784858] Chr1:161365648 [GRCh38]
Chr1:161335438 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001013625.4(CFAP126):c.466G>A (p.Asp156Asn) single nucleotide variant Inborn genetic diseases [RCV002757561] Chr1:161365033 [GRCh38]
Chr1:161334823 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001013625.4(CFAP126):c.514C>G (p.Gln172Glu) single nucleotide variant Inborn genetic diseases [RCV002891766] Chr1:161364985 [GRCh38]
Chr1:161334775 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_001013625.4(CFAP126):c.431T>C (p.Ile144Thr) single nucleotide variant Inborn genetic diseases [RCV003202001] Chr1:161365068 [GRCh38]
Chr1:161334858 [GRCh37]
Chr1:1q23.3		 uncertain significance
NC_000001.10:g.(161298288_161310383)_(161334542_?)dup duplication not specified [RCV003226735] Chr1:161310383..161334542 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3		 likely pathogenic
GRCh37/hg19 1q23.3(chr1:161333263-161413937)x3 copy number gain not specified [RCV003986495] Chr1:161333263..161413937 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161224742-161415981)x3 copy number gain not specified [RCV003986098] Chr1:161224742..161415981 [GRCh37]
Chr1:1q23.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:182
Count of miRNA genes:172
Interacting mature miRNAs:179
Transcripts:ENST00000367974
Prediction methods:Miranda, Rnahybrid
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
RH104510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,336,606 - 161,336,690UniSTSGRCh37
Build 361159,603,230 - 159,603,314RGDNCBI36
Celera1134,403,736 - 134,403,820RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,693,384 - 132,693,468UniSTS
GeneMap99-GB4 RH Map1589.5UniSTS
A009J11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,335,761 - 161,335,883UniSTSGRCh37
Build 361159,602,385 - 159,602,507RGDNCBI36
Celera1134,402,891 - 134,403,013RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,692,539 - 132,692,661UniSTS
GeneMap99-GB4 RH Map1578.06UniSTS
NCBI RH Map11443.4UniSTS
RH68877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,334,967 - 161,335,116UniSTSGRCh37
Build 361159,601,591 - 159,601,740RGDNCBI36
Celera1134,402,097 - 134,402,246RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,691,745 - 132,691,894UniSTS
GeneMap99-GB4 RH Map1587.23UniSTS
G32575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,335,761 - 161,335,883UniSTSGRCh37
Celera1134,402,891 - 134,403,013UniSTS
Cytogenetic Map1q23.3UniSTS
HuRef1132,692,539 - 132,692,661UniSTS


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 entire extraembryonic component
High 2
Medium 52 159 114 137 114 32 52 190 162 139
Low 49 2 68 61 46 62 8 4 30 50 45 23 2 1
Below cutoff 28 8 29 15 85 18 24 33 35 21 29 55 1 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000367974   ⟹   ENSP00000356951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,364,733 - 161,367,876 (-)Ensembl
RefSeq Acc Id: NM_001013625   ⟹   NP_001013647
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,364,733 - 161,367,876 (-)NCBI
GRCh371161,334,521 - 161,337,673 (-)NCBI
Build 361159,601,145 - 159,604,288 (-)NCBI Archive
Celera1134,401,651 - 134,404,794 (-)RGD
HuRef1132,691,299 - 132,694,451 (-)NCBI
CHM1_11162,730,776 - 162,733,928 (-)NCBI
T2T-CHM13v2.01160,502,177 - 160,505,320 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001013647 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EAW52596 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000356951
  ENSP00000356951.1
GenBank Protein Q5VTH2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001013647   ⟸   NM_001013625
- UniProtKB: Q5VTH2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000356951   ⟸   ENST00000367974

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VTH2-F1-model_v2 AlphaFold Q5VTH2 1-177 view protein structure

Promoters
RGD ID:6784775
Promoter ID:HG_KWN:5855
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:NM_001013625,   OTTHUMT00000083310
Position:
Human AssemblyChrPosition (strand)Source
Build 361159,604,241 - 159,604,741 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32325 AgrOrtholog
COSMIC CFAP126 COSMIC
Ensembl Genes ENSG00000188931 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000367974 ENTREZGENE
  ENST00000367974.2 UniProtKB/Swiss-Prot
GTEx ENSG00000188931 GTEx
HGNC ID HGNC:32325 ENTREZGENE
Human Proteome Map CFAP126 Human Proteome Map
InterPro Fltp UniProtKB/Swiss-Prot
KEGG Report hsa:257177 UniProtKB/Swiss-Prot
NCBI Gene 257177 ENTREZGENE
OMIM 616119 OMIM
PANTHER PROTEIN FLATTOP UniProtKB/Swiss-Prot
  PTHR34639 UniProtKB/Swiss-Prot
PharmGKB PA142672403 PharmGKB
UniProt FLTOP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-10-15 CFAP126  cilia and flagella associated protein 126  C1orf192  chromosome 1 open reading frame 192  Symbol and/or name change 5135510 APPROVED