IFT56 (intraflagellar transport 56) - Rat Genome Database

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Gene: IFT56 (intraflagellar transport 56) Homo sapiens
Analyze
Symbol: IFT56
Name: intraflagellar transport 56
RGD ID: 1605330
HGNC Page HGNC:21882
Description: Predicted to enable intraciliary transport particle B binding activity. Involved in cilium assembly. Located in cilium. Part of intraciliary transport particle B.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BRENS; dyf-13; DYF13; FLJ12571; intraflagellar transport protein 56; MGC163211; tetratricopeptide repeat domain 26; tetratricopeptide repeat protein 26; TPR repeat protein 26; TTC26
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
GRCh387139,133,778 - 139,191,986 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7139,133,744 - 139,191,986 (+)EnsemblGRCh38hg38GRCh38
GRCh377138,818,524 - 138,876,732 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367138,469,064 - 138,525,086 (+)NCBINCBI36Build 36hg18NCBI36
Celera7133,556,647 - 133,612,709 (+)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7133,128,180 - 133,184,243 (+)NCBIHuRef
CHM1_17138,752,226 - 138,808,298 (+)NCBICHM1_1
T2T-CHM13v2.07140,447,060 - 140,505,276 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27138,163,056 - 138,219,118 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell projection  (IEA)
centrosome  (IEA)
ciliary basal body  (IBA,IEA)
ciliary base  (IBA)
ciliary tip  (TAS)
cilium  (IEA,IMP,ISS,NAS,TAS)
intraciliary transport particle B  (IBA,IEA,IPI,ISS)
neuron projection  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Anterior pituitary hypoplasia  (IAGP)
Anteverted nares  (IAGP)
Aortic regurgitation  (IAGP)
Aqueductal stenosis  (IAGP)
Ascites  (IAGP)
Asthma  (IAGP)
Atrioventricular canal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bidirectional shunt  (IAGP)
Bile duct proliferation  (IAGP)
Biliary cirrhosis  (IAGP)
Broad first metatarsal  (IAGP)
Broad thumb  (IAGP)
Bronchial wall thickening  (IAGP)
Cardiac arrest  (IAGP)
Cholestasis  (IAGP)
Cirrhosis  (IAGP)
CNS hypomyelination  (IAGP)
Coloboma  (IAGP)
Common atrium  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Congenital onset  (IAGP)
Conjugated hyperbilirubinemia  (IAGP)
Cor triatriatum  (IAGP)
Dark urine  (IAGP)
Deeply set eye  (IAGP)
Depressed nasal bridge  (IAGP)
Dextrocardia  (IAGP)
Diabetes insipidus  (IAGP)
Dilatation of the renal pelvis  (IAGP)
Edema  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Esophageal varix  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Fetal distress  (IAGP)
Frontal bossing  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized edema  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatomegaly  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperbilirubinemia  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperechogenic kidneys  (IAGP)
Hypertelorism  (IAGP)
Hypoalbuminemia  (IAGP)
Hypotonia  (IAGP)
Increased circulating ferritin concentration  (IAGP)
Increased circulating lactate concentration  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Inlet ventricular septal defect  (IAGP)
Intrahepatic bile duct dilatation  (IAGP)
Jaundice  (IAGP)
Joint hypermobility  (IAGP)
Knee dislocation  (IAGP)
Lateral ventricle dilatation  (IAGP)
Left-to-right shunt  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Medullary nephrocalcinosis  (IAGP)
Metabolic acidosis  (IAGP)
Neonatal death  (IAGP)
Osteopenia  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Polydactyly  (IAGP)
Polyhydramnios  (IAGP)
Portal hypertension  (IAGP)
Postaxial polydactyly  (IAGP)
Primum atrial septal defect  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Protruding ear  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary artery dilatation  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal insufficiency  (IAGP)
Right aortic arch  (IAGP)
Round face  (IAGP)
Secundum atrial septal defect  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short stature  (IAGP)
Situs inversus totalis  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Syndactyly  (IAGP)
Tracheal bronchus  (IAGP)
Tricuspid regurgitation  (IAGP)
Unbalanced atrioventricular canal defect  (IAGP)
Upslanted palpebral fissure  (IAGP)
Vegetative state  (IAGP)
Ventricular septal defect  (IAGP)
Weak cry  (IAGP)
Widened cerebral subarachnoid space  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:15342556   PMID:19913121   PMID:20628086   PMID:21873635   PMID:24596149   PMID:25609649   PMID:26186194   PMID:26389662   PMID:26638075  
PMID:26673895   PMID:26980730   PMID:27173435   PMID:27432908   PMID:28514442   PMID:28675297   PMID:28718761   PMID:29229926   PMID:29615496   PMID:31595528   PMID:31620119   PMID:32617964  
PMID:33957083   PMID:33961781   PMID:35271311   PMID:35696571   PMID:35831314   PMID:36538041   PMID:37314216  


Genomics

Comparative Map Data
IFT56
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387139,133,778 - 139,191,986 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7139,133,744 - 139,191,986 (+)EnsemblGRCh38hg38GRCh38
GRCh377138,818,524 - 138,876,732 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367138,469,064 - 138,525,086 (+)NCBINCBI36Build 36hg18NCBI36
Celera7133,556,647 - 133,612,709 (+)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7133,128,180 - 133,184,243 (+)NCBIHuRef
CHM1_17138,752,226 - 138,808,298 (+)NCBICHM1_1
T2T-CHM13v2.07140,447,060 - 140,505,276 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27138,163,056 - 138,219,118 (+)NCBI
Ift56
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39638,358,400 - 38,404,582 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl638,358,404 - 38,404,582 (+)EnsemblGRCm39 Ensembl
GRCm38638,381,464 - 38,427,647 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl638,381,469 - 38,427,647 (+)EnsemblGRCm38mm10GRCm38
MGSCv37638,331,524 - 38,377,647 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36638,311,132 - 38,357,255 (+)NCBIMGSCv36mm8
Celera638,362,274 - 38,408,362 (+)NCBICelera
Cytogenetic Map6B1NCBI
cM Map617.76NCBI
Ift56
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8468,057,530 - 68,115,494 (+)NCBIGRCr8
mRatBN7.2467,090,622 - 67,154,707 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl467,090,660 - 67,147,903 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx472,032,338 - 72,090,212 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0467,953,414 - 68,011,307 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0466,351,188 - 66,409,069 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0466,090,178 - 66,147,998 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl466,090,209 - 66,148,001 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0465,904,439 - 65,960,061 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4465,922,943 - 65,981,026 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera462,110,206 - 62,167,871 (+)NCBICelera
Cytogenetic Map4q23NCBI
Ift56
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554943,861,519 - 3,905,399 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554943,861,679 - 3,905,499 (-)NCBIChiLan1.0ChiLan1.0
IFT56
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26175,943,920 - 176,005,051 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1727,954,179 - 28,015,305 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07131,092,241 - 131,150,109 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17143,578,586 - 143,636,362 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7143,579,500 - 143,636,362 (+)Ensemblpanpan1.1panPan2
IFT56
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1169,528,236 - 9,581,089 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl169,530,445 - 9,580,839 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1610,369,687 - 10,422,557 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0169,447,557 - 9,500,778 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl169,447,564 - 9,500,586 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1169,398,002 - 9,451,214 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0169,241,571 - 9,294,301 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0169,313,105 - 9,366,335 (-)NCBIUU_Cfam_GSD_1.0
Ift56
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511815,750,987 - 15,817,008 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365923,403,690 - 3,466,525 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365923,402,950 - 3,468,174 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IFT56
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1810,462,669 - 10,509,565 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11810,462,670 - 10,509,595 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21810,945,088 - 10,992,004 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IFT56
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121107,863,335 - 107,927,637 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21107,864,275 - 107,927,736 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660724,700,925 - 4,765,661 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ift56
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476519,532,100 - 19,586,804 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476519,531,910 - 19,588,703 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IFT56
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q34(chr7:138795539-140364913)x3 copy number gain See cases [RCV000053550] Chr7:138795539..140364913 [GRCh38]
Chr7:138480284..140064713 [GRCh37]
Chr7:138130824..139711182 [NCBI36]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35		 pathogenic
GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1 copy number loss See cases [RCV000054174] Chr7:137741740..139688885 [GRCh38]
Chr7:137426486..139373631 [GRCh37]
Chr7:137077026..139024171 [NCBI36]
Chr7:7q33-34		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1 copy number loss See cases [RCV000448552] Chr7:131642114..139107211 [GRCh37]
Chr7:7q32.3-34		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3 copy number gain See cases [RCV000512176] Chr7:137434852..140349546 [GRCh37]
Chr7:7q33-34		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1 copy number loss not provided [RCV001006019] Chr7:135677938..139810886 [GRCh37]
Chr7:7q33-34		 pathogenic
GRCh37/hg19 7q33-34(chr7:137675423-139084024)x1 copy number loss not provided [RCV000846410] Chr7:137675423..139084024 [GRCh37]
Chr7:7q33-34		 uncertain significance
GRCh37/hg19 7q33-34(chr7:137848980-138897699)x3 copy number gain not provided [RCV000846058] Chr7:137848980..138897699 [GRCh37]
Chr7:7q33-34		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_024926.4(IFT56):c.1599C>A (p.Asn533Lys) single nucleotide variant not specified [RCV004286241] Chr7:139189366 [GRCh38]
Chr7:138874112 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.788A>G (p.Asn263Ser) single nucleotide variant Biliary, renal, neurologic, and skeletal syndrome [RCV001727843]|Caroli disease [RCV001175231] Chr7:139161018 [GRCh38]
Chr7:138845764 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_024926.4(IFT56):c.1331C>T (p.Pro444Leu) single nucleotide variant Biliary, renal, neurologic, and skeletal syndrome [RCV001728068] Chr7:139181110 [GRCh38]
Chr7:138865856 [GRCh37]
Chr7:7q34		 pathogenic
NM_024926.4(IFT56):c.4-1G>C single nucleotide variant Biliary, renal, neurologic, and skeletal syndrome [RCV001727916]|Hydrocephalus [RCV001844310]|not provided [RCV004720929] Chr7:139134654 [GRCh38]
Chr7:138819400 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_024926.4(IFT56):c.1619T>C (p.Ile540Thr) single nucleotide variant not provided [RCV001908423] Chr7:139189386 [GRCh38]
Chr7:138874132 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NC_000007.13:g.(?_137761265)_(141759786_?)dup duplication not provided [RCV002014827] Chr7:137761265..141759786 [GRCh37]
Chr7:7q33-34		 uncertain significance
NM_024926.4(IFT56):c.48C>T (p.His16=) single nucleotide variant not provided [RCV002109142] Chr7:139134699 [GRCh38]
Chr7:138819445 [GRCh37]
Chr7:7q34		 benign
NM_024926.4(IFT56):c.1159-20G>A single nucleotide variant not provided [RCV002072417] Chr7:139178495 [GRCh38]
Chr7:138863241 [GRCh37]
Chr7:7q34		 benign
NM_024926.4(IFT56):c.546-16T>C single nucleotide variant not provided [RCV002092108] Chr7:139148190 [GRCh38]
Chr7:138832936 [GRCh37]
Chr7:7q34		 benign
NM_024926.4(IFT56):c.1419+12T>C single nucleotide variant not provided [RCV002089418] Chr7:139181210 [GRCh38]
Chr7:138865956 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.793-16A>T single nucleotide variant not provided [RCV002118419] Chr7:139165116 [GRCh38]
Chr7:138849862 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.1374C>A (p.Gly458=) single nucleotide variant not provided [RCV002082666] Chr7:139181153 [GRCh38]
Chr7:138865899 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.1553+9A>G single nucleotide variant not provided [RCV002164465] Chr7:139187548 [GRCh38]
Chr7:138872294 [GRCh37]
Chr7:7q34		 benign
NM_024926.4(IFT56):c.1575C>T (p.Leu525=) single nucleotide variant not provided [RCV002200628] Chr7:139189342 [GRCh38]
Chr7:138874088 [GRCh37]
Chr7:7q34		 benign
NC_000007.13:g.(?_138391369)_(141759786_?)del deletion RASopathy [RCV003113440]|not provided [RCV003109447] Chr7:138391369..141759786 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance|no classifications from unflagged records
NM_024926.4(IFT56):c.1655T>C (p.Val552Ala) single nucleotide variant not provided [RCV003118279]|not specified [RCV004634216] Chr7:139189422 [GRCh38]
Chr7:138874168 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_024926.4(IFT56):c.570T>C (p.Tyr190=) single nucleotide variant not provided [RCV002776294] Chr7:139148230 [GRCh38]
Chr7:138832976 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.710C>T (p.Ala237Val) single nucleotide variant not specified [RCV004141484] Chr7:139148370 [GRCh38]
Chr7:138833116 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.148C>T (p.Arg50Cys) single nucleotide variant not provided [RCV003076995] Chr7:139137853 [GRCh38]
Chr7:138822599 [GRCh37]
Chr7:7q34		 benign
NM_024926.4(IFT56):c.37G>A (p.Gly13Ser) single nucleotide variant not specified [RCV004170712] Chr7:139134688 [GRCh38]
Chr7:138819434 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.889C>T (p.Arg297Cys) single nucleotide variant not provided [RCV002927071] Chr7:139165228 [GRCh38]
Chr7:138849974 [GRCh37]
Chr7:7q34		 benign
NM_024926.4(IFT56):c.1416C>T (p.Tyr472=) single nucleotide variant not provided [RCV003021180] Chr7:139181195 [GRCh38]
Chr7:138865941 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.1312+17_1312+36del deletion not provided [RCV002573706] Chr7:139179660..139179679 [GRCh38]
Chr7:138864406..138864425 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.1267A>G (p.Lys423Glu) single nucleotide variant not provided [RCV002594971] Chr7:139179598 [GRCh38]
Chr7:138864344 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.895+20G>C single nucleotide variant not provided [RCV002790081] Chr7:139165254 [GRCh38]
Chr7:138850000 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.793-15T>A single nucleotide variant not provided [RCV002594821] Chr7:139165117 [GRCh38]
Chr7:138849863 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.235G>A (p.Glu79Lys) single nucleotide variant not specified [RCV004116515] Chr7:139139890 [GRCh38]
Chr7:138824636 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.935A>T (p.Glu312Val) single nucleotide variant not specified [RCV004182095] Chr7:139166879 [GRCh38]
Chr7:138851625 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.1349T>G (p.Leu450Arg) single nucleotide variant not specified [RCV004146084] Chr7:139181128 [GRCh38]
Chr7:138865874 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.1098T>G (p.Ala366=) single nucleotide variant not provided [RCV003010466] Chr7:139178242 [GRCh38]
Chr7:138862988 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.592T>C (p.Leu198=) single nucleotide variant not provided [RCV002966264] Chr7:139148252 [GRCh38]
Chr7:138832998 [GRCh37]
Chr7:7q34		 benign
NM_024926.4(IFT56):c.928G>A (p.Asp310Asn) single nucleotide variant IFT56-related disorder [RCV003903799]|not provided [RCV002895201] Chr7:139166872 [GRCh38]
Chr7:138851618 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.222G>A (p.Lys74=) single nucleotide variant not provided [RCV002647268] Chr7:139137927 [GRCh38]
Chr7:138822673 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.1070-7G>A single nucleotide variant not provided [RCV002922279] Chr7:139178207 [GRCh38]
Chr7:138862953 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.243A>C (p.Glu81Asp) single nucleotide variant not provided [RCV002680782] Chr7:139139898 [GRCh38]
Chr7:138824644 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.1592C>T (p.Thr531Ile) single nucleotide variant not provided [RCV002721992] Chr7:139189359 [GRCh38]
Chr7:138874105 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.1372G>A (p.Gly458Ser) single nucleotide variant not provided [RCV002943921] Chr7:139181151 [GRCh38]
Chr7:138865897 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.476C>T (p.Ser159Leu) single nucleotide variant Biliary, renal, neurologic, and skeletal syndrome [RCV003327255] Chr7:139147221 [GRCh38]
Chr7:138831967 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.519A>G (p.Ile173Met) single nucleotide variant not specified [RCV004344337] Chr7:139147264 [GRCh38]
Chr7:138832010 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.1303G>C (p.Ala435Pro) single nucleotide variant not specified [RCV004362214] Chr7:139179634 [GRCh38]
Chr7:138864380 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_024926.4(IFT56):c.1069+1G>A single nucleotide variant Biliary, renal, neurologic, and skeletal syndrome [RCV003890767] Chr7:139169353 [GRCh38]
Chr7:138854099 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_024926.4(IFT56):c.1661T>C (p.Ile554Thr) single nucleotide variant not specified [RCV004400319] Chr7:139189428 [GRCh38]
Chr7:138874174 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.1088A>C (p.Gln363Pro) single nucleotide variant not specified [RCV004400316] Chr7:139178232 [GRCh38]
Chr7:138862978 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.1396C>A (p.Leu466Ile) single nucleotide variant not specified [RCV004400317] Chr7:139181175 [GRCh38]
Chr7:138865921 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.310C>T (p.Leu104Phe) single nucleotide variant not specified [RCV004400320] Chr7:139139965 [GRCh38]
Chr7:138824711 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.1502G>A (p.Arg501Gln) single nucleotide variant not specified [RCV004400318] Chr7:139187488 [GRCh38]
Chr7:138872234 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.728A>G (p.Lys243Arg) single nucleotide variant not specified [RCV004400321] Chr7:139160958 [GRCh38]
Chr7:138845704 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.38G>A (p.Gly13Asp) single nucleotide variant not specified [RCV004627662] Chr7:139134689 [GRCh38]
Chr7:138819435 [GRCh37]
Chr7:7q34		 likely benign
NM_024926.4(IFT56):c.1375G>A (p.Glu459Lys) single nucleotide variant not specified [RCV004627663] Chr7:139181154 [GRCh38]
Chr7:138865900 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.1373G>T (p.Gly458Val) single nucleotide variant not specified [RCV004627664] Chr7:139181152 [GRCh38]
Chr7:138865898 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.899A>G (p.Asp300Gly) single nucleotide variant not specified [RCV004627665] Chr7:139166843 [GRCh38]
Chr7:138851589 [GRCh37]
Chr7:7q34		 uncertain significance
NM_024926.4(IFT56):c.559C>T (p.Leu187Phe) single nucleotide variant not specified [RCV004627666] Chr7:139148219 [GRCh38]
Chr7:138832965 [GRCh37]
Chr7:7q34		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3127
Count of miRNA genes:939
Interacting mature miRNAs:1132
Transcripts:ENST00000343187, ENST00000430935, ENST00000464848, ENST00000468866, ENST00000474035, ENST00000476296, ENST00000478836, ENST00000479132, ENST00000481482, ENST00000495038
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407053104GWAS702080_Hage at assessment, pelvic organ prolapse QTL GWAS702080 (human)0.000006age at assessment, pelvic organ prolapse7139184288139184289Human
407241139GWAS890115_Hcolor vision disorder QTL GWAS890115 (human)0.0000001color vision disorder7139191586139191587Human
407161891GWAS810867_Hblood lead measurement QTL GWAS810867 (human)0.0000001blood lead measurement7139166221139166222Human
407206494GWAS855470_Hage at menarche QTL GWAS855470 (human)2e-10age at menarche7139189670139189671Human
407072268GWAS721244_Hbody mass index QTL GWAS721244 (human)1e-20body mass indexbody mass index (BMI) (CMO:0000105)7139189670139189671Human

Markers in Region
D7S1630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377138,853,050 - 138,853,155UniSTSGRCh37
Build 367138,503,590 - 138,503,695RGDNCBI36
Celera7133,591,209 - 133,591,314RGD
Cytogenetic Map7q34UniSTS
HuRef7133,162,742 - 133,162,847UniSTS
CRA_TCAGchr7v27138,197,618 - 138,197,723UniSTS
RH93298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377138,835,249 - 138,835,338UniSTSGRCh37
Build 367138,485,789 - 138,485,878RGDNCBI36
Celera7133,573,407 - 133,573,496RGD
Cytogenetic Map7q34UniSTS
HuRef7133,144,940 - 133,145,029UniSTS
CRA_TCAGchr7v27138,179,816 - 138,179,905UniSTS
GeneMap99-GB4 RH Map7638.7UniSTS
SHGC-64771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377138,874,177 - 138,874,360UniSTSGRCh37
Build 367138,524,717 - 138,524,900RGDNCBI36
Celera7133,612,336 - 133,612,519RGD
Cytogenetic Map7q34UniSTS
HuRef7133,183,870 - 133,184,053UniSTS
CRA_TCAGchr7v27138,218,745 - 138,218,928UniSTS
TNG Radiation Hybrid Map762044.0UniSTS
REN45587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377138,858,641 - 138,858,861UniSTSGRCh37
GRCh372234,775,861 - 234,776,091UniSTSGRCh37
Build 362234,440,600 - 234,440,830RGDNCBI36
Celera2228,496,283 - 228,496,513RGD
Celera7133,596,800 - 133,597,020UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic MapXp22.3UniSTS
HuRef7133,168,334 - 133,168,554UniSTS
HuRef2226,575,457 - 226,575,687UniSTS
CRA_TCAGchr7v27138,203,209 - 138,203,429UniSTS
D7S1969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377138,819,362 - 138,819,475UniSTSGRCh37
Build 367138,469,902 - 138,470,015RGDNCBI36
Celera7133,557,519 - 133,557,632RGD
Cytogenetic Map7q34UniSTS
HuRef7133,129,052 - 133,129,165UniSTS
CRA_TCAGchr7v27138,163,928 - 138,164,041UniSTS
RH69399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377138,874,314 - 138,874,512UniSTSGRCh37
Build 367138,524,854 - 138,525,052RGDNCBI36
Celera7133,612,473 - 133,612,671RGD
Cytogenetic Map7q34UniSTS
HuRef7133,184,007 - 133,184,205UniSTS
CRA_TCAGchr7v27138,218,882 - 138,219,080UniSTS
GeneMap99-GB4 RH Map7639.1UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
sY3084  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map4q27UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3q12.3UniSTS
MSL3L1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,775,555 - 234,775,683UniSTSGRCh37
GRCh377138,858,349 - 138,858,477UniSTSGRCh37
Celera2228,495,977 - 228,496,105UniSTS
Celera7133,596,508 - 133,596,636UniSTS
HuRef7133,168,042 - 133,168,170UniSTS
HuRef2226,575,151 - 226,575,279UniSTS
CRA_TCAGchr7v27138,202,917 - 138,203,045UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001144920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI375270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP315162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA450032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000343187   ⟹   ENSP00000339135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,133,783 - 139,189,800 (+)Ensembl
Ensembl Acc Id: ENST00000430935   ⟹   ENSP00000410655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,133,744 - 139,191,985 (+)Ensembl
Ensembl Acc Id: ENST00000464848   ⟹   ENSP00000419279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,133,778 - 139,191,986 (+)Ensembl
Ensembl Acc Id: ENST00000468866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,133,822 - 139,148,248 (+)Ensembl
Ensembl Acc Id: ENST00000474035   ⟹   ENSP00000443253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,133,778 - 139,161,343 (+)Ensembl
Ensembl Acc Id: ENST00000476296   ⟹   ENSP00000419639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,133,788 - 139,190,292 (+)Ensembl
Ensembl Acc Id: ENST00000478836   ⟹   ENSP00000419178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,133,778 - 139,189,802 (+)Ensembl
Ensembl Acc Id: ENST00000479132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,133,776 - 139,147,154 (+)Ensembl
Ensembl Acc Id: ENST00000481482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,133,780 - 139,168,581 (+)Ensembl
Ensembl Acc Id: ENST00000495038   ⟹   ENSP00000418788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,133,764 - 139,189,665 (+)Ensembl
RefSeq Acc Id: NM_001144920   ⟹   NP_001138392
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,133,778 - 139,191,986 (+)NCBI
GRCh377138,818,490 - 138,874,550 (+)RGD
GRCh377138,818,490 - 138,874,550 (+)NCBI
Celera7133,556,647 - 133,612,709 (+)RGD
HuRef7133,128,180 - 133,186,422 (+)NCBI
CHM1_17138,752,226 - 138,810,477 (+)NCBI
T2T-CHM13v2.07140,447,060 - 140,505,276 (+)NCBI
CRA_TCAGchr7v27138,163,056 - 138,219,118 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001144923   ⟹   NP_001138395
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,133,778 - 139,191,986 (+)NCBI
GRCh377138,818,490 - 138,874,550 (+)RGD
GRCh377138,818,490 - 138,874,550 (+)NCBI
Celera7133,556,647 - 133,612,709 (+)RGD
HuRef7133,128,180 - 133,186,422 (+)NCBI
CHM1_17138,752,226 - 138,810,477 (+)NCBI
T2T-CHM13v2.07140,447,060 - 140,505,276 (+)NCBI
CRA_TCAGchr7v27138,163,056 - 138,219,118 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001287512   ⟹   NP_001274441
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,133,778 - 139,191,986 (+)NCBI
HuRef7133,128,180 - 133,186,422 (+)NCBI
CHM1_17138,752,226 - 138,810,477 (+)NCBI
T2T-CHM13v2.07140,447,060 - 140,505,276 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287513   ⟹   NP_001274442
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,133,778 - 139,191,986 (+)NCBI
HuRef7133,128,180 - 133,186,422 (+)NCBI
CHM1_17138,752,226 - 138,810,477 (+)NCBI
T2T-CHM13v2.07140,447,060 - 140,505,276 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318333   ⟹   NP_001305262
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,133,778 - 139,191,986 (+)NCBI
CHM1_17138,752,226 - 138,810,477 (+)NCBI
T2T-CHM13v2.07140,447,060 - 140,505,276 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321740   ⟹   NP_001308669
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,133,778 - 139,191,986 (+)NCBI
CHM1_17138,752,226 - 138,810,477 (+)NCBI
T2T-CHM13v2.07140,447,060 - 140,505,276 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321741   ⟹   NP_001308670
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,133,778 - 139,191,986 (+)NCBI
CHM1_17138,752,226 - 138,810,477 (+)NCBI
T2T-CHM13v2.07140,447,060 - 140,505,276 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321742   ⟹   NP_001308671
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,133,778 - 139,161,345 (+)NCBI
CHM1_17138,752,226 - 138,779,822 (+)NCBI
T2T-CHM13v2.07140,447,060 - 140,474,634 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024926   ⟹   NP_079202
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,133,778 - 139,191,986 (+)NCBI
GRCh377138,818,490 - 138,874,550 (+)NCBI
Build 367138,469,064 - 138,525,086 (+)NCBI Archive
Celera7133,556,647 - 133,612,709 (+)RGD
HuRef7133,128,180 - 133,186,422 (+)NCBI
CHM1_17138,752,226 - 138,810,477 (+)NCBI
T2T-CHM13v2.07140,447,060 - 140,505,276 (+)NCBI
CRA_TCAGchr7v27138,163,056 - 138,219,118 (+)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_001138392 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138395 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274441 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274442 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308669 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308670 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308671 (Get FASTA)   NCBI Sequence Viewer  
  NP_079202 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0AVF1 (Get FASTA)   NCBI Sequence Viewer  
  AAH13912 (Get FASTA)   NCBI Sequence Viewer  
  AAI26332 (Get FASTA)   NCBI Sequence Viewer  
  AAI30340 (Get FASTA)   NCBI Sequence Viewer  
  BAB14143 (Get FASTA)   NCBI Sequence Viewer  
  BAH11506 (Get FASTA)   NCBI Sequence Viewer  
  BAH11969 (Get FASTA)   NCBI Sequence Viewer  
  BAH12956 (Get FASTA)   NCBI Sequence Viewer  
  BAH13352 (Get FASTA)   NCBI Sequence Viewer  
  CAB70721 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43117 (Get FASTA)   NCBI Sequence Viewer  
  EAL24039 (Get FASTA)   NCBI Sequence Viewer  
  EAW83906 (Get FASTA)   NCBI Sequence Viewer  
  EAW83907 (Get FASTA)   NCBI Sequence Viewer  
  EAW83908 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000339135
  ENSP00000339135.4
  ENSP00000410655
  ENSP00000410655.1
  ENSP00000418788
  ENSP00000418788.1
  ENSP00000419178
  ENSP00000419178.2
  ENSP00000419279
  ENSP00000419279.1
  ENSP00000419639.1
  ENSP00000443253
  ENSP00000443253.1
RefSeq Acc Id: NP_001138392   ⟸   NM_001144920
- Peptide Label: isoform 2
- UniProtKB: A0AVF1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138395   ⟸   NM_001144923
- Peptide Label: isoform 3
- UniProtKB: A0AVF1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_079202   ⟸   NM_024926
- Peptide Label: isoform 1
- UniProtKB: Q9H9S8 (UniProtKB/Swiss-Prot),   F8W724 (UniProtKB/Swiss-Prot),   C9J2N7 (UniProtKB/Swiss-Prot),   B7Z5M0 (UniProtKB/Swiss-Prot),   A4D1S3 (UniProtKB/Swiss-Prot),   Q9NTC0 (UniProtKB/Swiss-Prot),   A0AVF1 (UniProtKB/Swiss-Prot),   B7Z6R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274441   ⟸   NM_001287512
- Peptide Label: isoform 4
- UniProtKB: B7Z2T3 (UniProtKB/TrEMBL),   B7Z6R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274442   ⟸   NM_001287513
- Peptide Label: isoform 5
- UniProtKB: B7Z1H0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305262   ⟸   NM_001318333
- Peptide Label: isoform 6
- UniProtKB: Q96CU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308669   ⟸   NM_001321740
- Peptide Label: isoform 7
- UniProtKB: Q96CU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308670   ⟸   NM_001321741
- Peptide Label: isoform 8
- UniProtKB: B7Z6R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308671   ⟸   NM_001321742
- Peptide Label: isoform 9
- UniProtKB: Q96CU4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000419279   ⟸   ENST00000464848
Ensembl Acc Id: ENSP00000419178   ⟸   ENST00000478836
Ensembl Acc Id: ENSP00000418788   ⟸   ENST00000495038
Ensembl Acc Id: ENSP00000410655   ⟸   ENST00000430935
Ensembl Acc Id: ENSP00000443253   ⟸   ENST00000474035
Ensembl Acc Id: ENSP00000339135   ⟸   ENST00000343187
Ensembl Acc Id: ENSP00000419639   ⟸   ENST00000476296

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0AVF1-F1-model_v2 AlphaFold A0AVF1 1-554 view protein structure

Promoters
RGD ID:6805449
Promoter ID:HG_KWN:59920
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001144920,   NM_001144923,   NM_024926,   UC003VUQ.1,   UC003VUR.2,   UC003VUT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367138,468,784 - 138,469,284 (+)MPROMDB
RGD ID:7212041
Promoter ID:EPDNEW_H11766
Type:initiation region
Name:TTC26_1
Description:tetratricopeptide repeat domain 26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11763  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,133,778 - 139,133,838EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21882 AgrOrtholog
COSMIC IFT56 COSMIC
Ensembl Genes ENSG00000105948 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000343187 ENTREZGENE
  ENST00000343187.8 UniProtKB/Swiss-Prot
  ENST00000430935 ENTREZGENE
  ENST00000430935.5 UniProtKB/Swiss-Prot
  ENST00000464848 ENTREZGENE
  ENST00000464848.5 UniProtKB/Swiss-Prot
  ENST00000474035 ENTREZGENE
  ENST00000474035.6 UniProtKB/TrEMBL
  ENST00000476296.1 UniProtKB/TrEMBL
  ENST00000478836 ENTREZGENE
  ENST00000478836.6 UniProtKB/TrEMBL
  ENST00000495038 ENTREZGENE
  ENST00000495038.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105948 GTEx
HGNC ID HGNC:21882 ENTREZGENE
Human Proteome Map IFT56 Human Proteome Map
InterPro TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TTC26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79989 UniProtKB/Swiss-Prot
NCBI Gene 79989 ENTREZGENE
OMIM 617453 OMIM
PANTHER INTRAFLAGELLAR TRANSPORT PROTEIN 56 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14781 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANAPC3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA144596245 PharmGKB
PROSITE TPR_REGION UniProtKB/Swiss-Prot
SMART TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AVF1 ENTREZGENE
  A4D1S3 ENTREZGENE
  B7Z1H0 ENTREZGENE, UniProtKB/TrEMBL
  B7Z2T3 ENTREZGENE, UniProtKB/TrEMBL
  B7Z5M0 ENTREZGENE
  B7Z6R6 ENTREZGENE, UniProtKB/TrEMBL
  C9J2N7 ENTREZGENE
  F8W724 ENTREZGENE
  F8WEZ4_HUMAN UniProtKB/TrEMBL
  IFT56_HUMAN UniProtKB/Swiss-Prot
  Q96CU4 ENTREZGENE, UniProtKB/TrEMBL
  Q9H9S8 ENTREZGENE
  Q9NTC0 ENTREZGENE
UniProt Secondary A4D1S3 UniProtKB/Swiss-Prot
  B7Z5M0 UniProtKB/Swiss-Prot
  C9J2N7 UniProtKB/Swiss-Prot
  F8W724 UniProtKB/Swiss-Prot
  Q9H9S8 UniProtKB/Swiss-Prot
  Q9NTC0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-04-03 IFT56  intraflagellar transport 56  TTC26  tetratricopeptide repeat domain 26  Symbol and/or name change 19259463 PROVISIONAL