TAF5L (TATA-box binding protein associated factor 5 like) - Rat Genome Database

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Gene: TAF5L (TATA-box binding protein associated factor 5 like) Homo sapiens
Analyze
Symbol: TAF5L
Name: TATA-box binding protein associated factor 5 like
RGD ID: 1320985
HGNC Page HGNC:17304
Description: Enables transcription coactivator activity. Involved in regulation of transcription by RNA polymerase II. Located in cytoplasmic ribonucleoprotein granule and nuclear speck. Part of SAGA complex and transcription factor TFTC complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PAF65-beta; PAF65B; PCAF associated factor 65 beta; PCAF-associated factor 65 beta; TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L; TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa; TATA box binding protein associated factor 5 like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: TAF5LP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381229,593,134 - 229,626,122 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1229,593,134 - 229,626,122 (-)EnsemblGRCh38hg38GRCh38
GRCh371229,728,881 - 229,761,869 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361227,795,481 - 227,828,417 (-)NCBINCBI36Build 36hg18NCBI36
Build 341226,035,602 - 226,068,460NCBI
Celera1202,996,790 - 203,029,673 (-)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1200,219,088 - 200,252,013 (-)NCBIHuRef
CHM1_11231,001,159 - 231,034,105 (-)NCBICHM1_1
T2T-CHM13v2.01228,972,074 - 229,005,072 (-)NCBIT2T-CHM13v2.0
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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. ATAC-king the complexity of SAGA during evolution. Spedale G, etal., Genes Dev. 2012 Mar 15;26(6):527-41. doi: 10.1101/gad.184705.111.
Additional References at PubMed
PMID:9603525   PMID:9674419   PMID:9674425   PMID:9880483   PMID:9885574   PMID:10373431   PMID:11124703   PMID:11406595   PMID:11564863   PMID:12477932   PMID:12486002   PMID:12601814  
PMID:12660246   PMID:15489334   PMID:15932940   PMID:16126174   PMID:16206511   PMID:16672693   PMID:16829519   PMID:17207965   PMID:17476304   PMID:17643375   PMID:17694077   PMID:18206972  
PMID:18250150   PMID:19114550   PMID:19322201   PMID:19615732   PMID:20211142   PMID:20850016   PMID:20946988   PMID:21873635   PMID:21900206   PMID:22939629   PMID:23620142   PMID:24163370  
PMID:24981860   PMID:25609649   PMID:26186194   PMID:26496610   PMID:26760575   PMID:26949251   PMID:27601583   PMID:27609421   PMID:28514442   PMID:29117863   PMID:29509190   PMID:29656893  
PMID:30154076   PMID:30415952   PMID:30779601   PMID:30804394   PMID:30804502   PMID:30948266   PMID:31091453   PMID:31527615   PMID:31741433   PMID:31753913   PMID:32694731   PMID:32891193  
PMID:33637726   PMID:33729478   PMID:33961781   PMID:34048709   PMID:34079125   PMID:34189442   PMID:34857952   PMID:35016035   PMID:35140242   PMID:35271311   PMID:35439318   PMID:35559673  
PMID:37682711   PMID:38297188  


Genomics

Comparative Map Data
TAF5L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381229,593,134 - 229,626,122 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1229,593,134 - 229,626,122 (-)EnsemblGRCh38hg38GRCh38
GRCh371229,728,881 - 229,761,869 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361227,795,481 - 227,828,417 (-)NCBINCBI36Build 36hg18NCBI36
Build 341226,035,602 - 226,068,460NCBI
Celera1202,996,790 - 203,029,673 (-)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1200,219,088 - 200,252,013 (-)NCBIHuRef
CHM1_11231,001,159 - 231,034,105 (-)NCBICHM1_1
T2T-CHM13v2.01228,972,074 - 229,005,072 (-)NCBIT2T-CHM13v2.0
Taf5l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398124,723,049 - 124,748,136 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8124,723,057 - 124,748,136 (-)EnsemblGRCm39 Ensembl
GRCm388123,996,310 - 124,021,397 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8123,996,318 - 124,021,397 (-)EnsemblGRCm38mm10GRCm38
MGSCv378126,520,210 - 126,545,209 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368126,882,400 - 126,907,399 (-)NCBIMGSCv36mm8
Celera8128,276,365 - 128,290,026 (-)NCBICelera
Cytogenetic Map8E2NCBI
cM Map872.31NCBI
Taf5l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81968,889,153 - 68,908,480 (-)NCBIGRCr8
mRatBN7.21951,991,704 - 52,011,001 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1951,991,708 - 52,011,295 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1958,774,970 - 58,793,905 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01959,627,362 - 59,646,314 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01961,701,397 - 61,720,332 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01956,781,854 - 56,801,005 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1956,781,859 - 56,799,445 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01967,497,406 - 67,516,350 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41954,190,450 - 54,209,389 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11954,196,180 - 54,202,880 (-)NCBI
Celera1951,366,198 - 51,385,134 (-)NCBICelera
Cytogenetic Map19q12NCBI
Taf5l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554928,479,194 - 8,517,105 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554928,478,147 - 8,515,988 (+)NCBIChiLan1.0ChiLan1.0
TAF5L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2119,585,861 - 19,618,794 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1119,778,134 - 19,811,085 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01205,137,767 - 205,170,704 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11210,168,370 - 210,200,903 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1210,168,379 - 210,200,903 (-)Ensemblpanpan1.1panPan2
TAF5L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.149,646,516 - 9,674,318 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl49,646,510 - 9,673,148 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha49,637,148 - 9,665,450 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.049,676,557 - 9,704,884 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl49,676,606 - 9,703,979 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.149,680,590 - 9,708,468 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.049,794,777 - 9,823,249 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0410,046,852 - 10,075,167 (+)NCBIUU_Cfam_GSD_1.0
Taf5l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934443,955,747 - 43,976,730 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648420,127,235 - 20,143,273 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648420,123,039 - 20,143,063 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAF5L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1460,255,375 - 60,286,349 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11460,254,502 - 60,286,368 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21465,077,397 - 65,109,260 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TAF5L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12566,859,264 - 66,892,877 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2566,858,911 - 66,881,081 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605568,720,607 - 68,753,722 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Taf5l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477519,496,986 - 19,525,489 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477519,496,924 - 19,525,495 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TAF5L
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 copy number loss See cases [RCV000240001] Chr1:226871745..229906954 [GRCh37]
Chr1:1q42.12-42.13
uncertain significance
NM_014409.4(TAF5L):c.163G>A (p.Ala55Thr) single nucleotide variant not specified [RCV004296297] Chr1:229610190 [GRCh38]
Chr1:229745937 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
NM_014409.4(TAF5L):c.112A>G (p.Thr38Ala) single nucleotide variant not specified [RCV004290683] Chr1:229614371 [GRCh38]
Chr1:229750118 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
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 1q42.13(chr1:229761414-229772402)x4 copy number gain not provided [RCV000749383] Chr1:229761414..229772402 [GRCh37]
Chr1:1q42.13
benign
NM_014409.4(TAF5L):c.271G>A (p.Glu91Lys) single nucleotide variant not specified [RCV004300308] Chr1:229602896 [GRCh38]
Chr1:229738643 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 copy number gain not provided [RCV001005187] Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43
pathogenic
NM_014409.4(TAF5L):c.153A>G (p.Glu51=) single nucleotide variant not provided [RCV000972674] Chr1:229610200 [GRCh38]
Chr1:229745947 [GRCh37]
Chr1:1q42.13
benign
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
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 1q42.13-42.2(chr1:228214912-231483538) copy number loss not specified [RCV002052889] Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2
pathogenic
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2
likely pathogenic
NC_000001.10:g.(?_229567246)_(232172577_?)dup duplication Actin accumulation myopathy [RCV003120751]|not provided [RCV001943051] Chr1:229567246..232172577 [GRCh37]
Chr1:1q42.13-42.2
uncertain significance|no classifications from unflagged records
NC_000001.10:g.(?_229567246)_(231413288_?)del deletion not provided [RCV003116710] Chr1:229567246..231413288 [GRCh37]
Chr1:1q42.13-42.2
pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_014409.4(TAF5L):c.194C>T (p.Ala65Val) single nucleotide variant not specified [RCV004170034] Chr1:229610159 [GRCh38]
Chr1:229745906 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.1766A>G (p.His589Arg) single nucleotide variant not specified [RCV004121968] Chr1:229594301 [GRCh38]
Chr1:229730048 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
NM_014409.4(TAF5L):c.691C>G (p.Pro231Ala) single nucleotide variant not specified [RCV004163656] Chr1:229602476 [GRCh38]
Chr1:229738223 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 copy number gain not provided [RCV002475638] Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43
likely pathogenic
NM_014409.4(TAF5L):c.1154A>G (p.Tyr385Cys) single nucleotide variant not specified [RCV004220652] Chr1:229594913 [GRCh38]
Chr1:229730660 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.713C>T (p.Ala238Val) single nucleotide variant not specified [RCV004152956] Chr1:229602454 [GRCh38]
Chr1:229738201 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.647C>T (p.Ser216Phe) single nucleotide variant not specified [RCV004164574] Chr1:229602520 [GRCh38]
Chr1:229738267 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.650G>A (p.Arg217His) single nucleotide variant Inborn genetic diseases [RCV002668157] Chr1:229602517 [GRCh38]
Chr1:229738264 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.1016G>A (p.Arg339Gln) single nucleotide variant not specified [RCV004143849] Chr1:229595051 [GRCh38]
Chr1:229730798 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.1657A>T (p.Ser553Cys) single nucleotide variant not specified [RCV004104572] Chr1:229594410 [GRCh38]
Chr1:229730157 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.1666G>A (p.Val556Met) single nucleotide variant not specified [RCV004143147] Chr1:229594401 [GRCh38]
Chr1:229730148 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43
not provided
NM_014409.4(TAF5L):c.1039A>G (p.Ser347Gly) single nucleotide variant not specified [RCV004217686] Chr1:229595028 [GRCh38]
Chr1:229730775 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.1684C>G (p.Gln562Glu) single nucleotide variant not specified [RCV004211214] Chr1:229594383 [GRCh38]
Chr1:229730130 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.775A>G (p.Ile259Val) single nucleotide variant not specified [RCV004180038] Chr1:229602392 [GRCh38]
Chr1:229738139 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.1451C>T (p.Ala484Val) single nucleotide variant not specified [RCV004241516] Chr1:229594616 [GRCh38]
Chr1:229730363 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.664G>A (p.Gly222Ser) single nucleotide variant not specified [RCV004096711] Chr1:229602503 [GRCh38]
Chr1:229738250 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.883T>C (p.Trp295Arg) single nucleotide variant not specified [RCV004346572] Chr1:229602284 [GRCh38]
Chr1:229738031 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.613A>C (p.Thr205Pro) single nucleotide variant not specified [RCV004341270] Chr1:229602554 [GRCh38]
Chr1:229738301 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1 copy number loss not specified [RCV003986606] Chr1:228215364..229747702 [GRCh37]
Chr1:1q42.13
pathogenic
NM_014409.4(TAF5L):c.998C>T (p.Thr333Met) single nucleotide variant not specified [RCV004468851] Chr1:229595069 [GRCh38]
Chr1:229730816 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.1666G>T (p.Val556Leu) single nucleotide variant not specified [RCV004458932] Chr1:229594401 [GRCh38]
Chr1:229730148 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.403G>A (p.Asp135Asn) single nucleotide variant not specified [RCV004458934] Chr1:229602764 [GRCh38]
Chr1:229738511 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.1262T>C (p.Ile421Thr) single nucleotide variant not specified [RCV004458931] Chr1:229594805 [GRCh38]
Chr1:229730552 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.67G>A (p.Val23Met) single nucleotide variant not specified [RCV004458935] Chr1:229614416 [GRCh38]
Chr1:229750163 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.1217G>A (p.Arg406His) single nucleotide variant not specified [RCV004458930] Chr1:229594850 [GRCh38]
Chr1:229730597 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.1696G>A (p.Val566Ile) single nucleotide variant not specified [RCV004458933] Chr1:229594371 [GRCh38]
Chr1:229730118 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_014409.4(TAF5L):c.706G>A (p.Glu236Lys) single nucleotide variant not specified [RCV004468850] Chr1:229602461 [GRCh38]
Chr1:229738208 [GRCh37]
Chr1:1q42.13
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2382
Count of miRNA genes:998
Interacting mature miRNAs:1193
Transcripts:ENST00000258281, ENST00000366674, ENST00000366675, ENST00000366676, ENST00000477957
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH103367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371229,728,972 - 229,729,109UniSTSGRCh37
Build 361227,795,595 - 227,795,732RGDNCBI36
Celera1202,996,904 - 202,997,041RGD
Cytogenetic Map1q42.13UniSTS
HuRef1200,219,202 - 200,219,339UniSTS
GeneMap99-GB4 RH Map1734.59UniSTS
SHGC-83350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371229,737,838 - 229,738,128UniSTSGRCh37
Build 361227,804,461 - 227,804,751RGDNCBI36
Celera1203,005,770 - 203,006,060RGD
Cytogenetic Map1q42.13UniSTS
HuRef1200,228,068 - 200,228,358UniSTS
TNG Radiation Hybrid Map1116663.0UniSTS
RH121164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371229,739,128 - 229,739,472UniSTSGRCh37
Build 361227,805,751 - 227,806,095RGDNCBI36
Celera1203,007,060 - 203,007,404RGD
Cytogenetic Map1q42.13UniSTS
HuRef1200,229,358 - 200,229,702UniSTS
TNG Radiation Hybrid Map1116726.0UniSTS
G13251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37893,416,919 - 93,417,022UniSTSGRCh37
GRCh371229,728,925 - 229,729,027UniSTSGRCh37
Build 361227,795,548 - 227,795,650RGDNCBI36
Celera1202,996,857 - 202,996,959RGD
Celera889,603,220 - 89,603,323UniSTS
Cytogenetic Map1q42.13UniSTS
HuRef888,623,923 - 88,624,026UniSTS
HuRef1200,219,155 - 200,219,257UniSTS


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 pharyngeal arch
High
Medium 1352 1324 509 102 850 92 2091 897 572 145 587 1010 25 912 1189 4
Low 1087 1580 1217 522 1016 373 2266 1297 3161 273 873 603 150 1 292 1599 2 2
Below cutoff 87 85 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001025247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF069736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI251746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ009770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE646579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000258281   ⟹   ENSP00000258281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1229,593,134 - 229,626,122 (-)Ensembl
RefSeq Acc Id: ENST00000366674   ⟹   ENSP00000355634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1229,614,157 - 229,626,047 (-)Ensembl
RefSeq Acc Id: ENST00000366675   ⟹   ENSP00000355635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1229,599,194 - 229,625,970 (-)Ensembl
RefSeq Acc Id: ENST00000366676   ⟹   ENSP00000355636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1229,593,111 - 229,614,482 (-)Ensembl
RefSeq Acc Id: ENST00000477957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1229,606,834 - 229,626,038 (-)Ensembl
RefSeq Acc Id: NM_001025247   ⟹   NP_001020418
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,599,194 - 229,626,122 (-)NCBI
GRCh371229,728,858 - 229,761,794 (-)RGD
Build 361227,801,564 - 227,828,417 (-)NCBI Archive
Celera1202,996,790 - 203,029,673 (-)RGD
HuRef1200,219,088 - 200,252,013 (-)RGD
CHM1_11231,007,239 - 231,034,105 (-)NCBI
T2T-CHM13v2.01228,978,131 - 229,005,072 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014409   ⟹   NP_055224
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,593,134 - 229,626,122 (-)NCBI
GRCh371229,728,858 - 229,761,794 (-)RGD
Build 361227,795,481 - 227,828,417 (-)NCBI Archive
Celera1202,996,790 - 203,029,673 (-)RGD
HuRef1200,219,088 - 200,252,013 (-)RGD
CHM1_11231,001,159 - 231,034,105 (-)NCBI
T2T-CHM13v2.01228,972,074 - 229,005,072 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005273099   ⟹   XP_005273156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,593,134 - 229,625,643 (-)NCBI
GRCh371229,728,858 - 229,761,794 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544162   ⟹   XP_011542464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,593,134 - 229,607,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544164   ⟹   XP_011542466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,593,134 - 229,607,788 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417996   ⟹   XP_047273952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,593,134 - 229,607,835 (-)NCBI
RefSeq Acc Id: XM_047417997   ⟹   XP_047273953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381229,593,134 - 229,610,192 (-)NCBI
RefSeq Acc Id: XM_054336005   ⟹   XP_054191980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01228,972,074 - 229,004,683 (-)NCBI
RefSeq Acc Id: XM_054336006   ⟹   XP_054191981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01228,972,074 - 228,986,779 (-)NCBI
RefSeq Acc Id: XM_054336007   ⟹   XP_054191982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01228,972,074 - 228,986,779 (-)NCBI
RefSeq Acc Id: XM_054336008   ⟹   XP_054191983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01228,972,074 - 228,989,137 (-)NCBI
RefSeq Acc Id: XM_054336009   ⟹   XP_054191984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01228,972,074 - 228,986,732 (-)NCBI
RefSeq Acc Id: NP_055224   ⟸   NM_014409
- Peptide Label: isoform a
- UniProtKB: Q5TDI6 (UniProtKB/Swiss-Prot),   Q5TDI5 (UniProtKB/Swiss-Prot),   Q8IW31 (UniProtKB/Swiss-Prot),   O75529 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001020418   ⟸   NM_001025247
- Peptide Label: isoform b
- UniProtKB: O75529 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273156   ⟸   XM_005273099
- Peptide Label: isoform X1
- UniProtKB: Q5TDI6 (UniProtKB/Swiss-Prot),   Q5TDI5 (UniProtKB/Swiss-Prot),   Q8IW31 (UniProtKB/Swiss-Prot),   O75529 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542464   ⟸   XM_011544162
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011542466   ⟸   XM_011544164
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000258281   ⟸   ENST00000258281
RefSeq Acc Id: ENSP00000355634   ⟸   ENST00000366674
RefSeq Acc Id: ENSP00000355635   ⟸   ENST00000366675
RefSeq Acc Id: ENSP00000355636   ⟸   ENST00000366676
RefSeq Acc Id: XP_047273953   ⟸   XM_047417997
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047273952   ⟸   XM_047417996
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054191980   ⟸   XM_054336005
- Peptide Label: isoform X1
- UniProtKB: Q5TDI6 (UniProtKB/Swiss-Prot),   Q5TDI5 (UniProtKB/Swiss-Prot),   O75529 (UniProtKB/Swiss-Prot),   Q8IW31 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054191983   ⟸   XM_054336008
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054191981   ⟸   XM_054336006
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054191982   ⟸   XM_054336007
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054191984   ⟸   XM_054336009
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75529-F1-model_v2 AlphaFold O75529 1-589 view protein structure

Promoters
RGD ID:6787188
Promoter ID:HG_KWN:7766
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366674,   NM_001025247,   NM_014409,   NM_014777,   OTTHUMT00000099068,   UC009XFD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361227,827,526 - 227,828,682 (+)MPROMDB
RGD ID:6859228
Promoter ID:EPDNEW_H2779
Type:initiation region
Name:TAF5L_1
Description:TATA-box binding protein associated factor 5 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
GRCh381229,626,056 - 229,626,116EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17304 AgrOrtholog
COSMIC TAF5L COSMIC
Ensembl Genes ENSG00000135801 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258281 ENTREZGENE
  ENST00000258281.7 UniProtKB/Swiss-Prot
  ENST00000366674.1 UniProtKB/TrEMBL
  ENST00000366675 ENTREZGENE
  ENST00000366675.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.500 UniProtKB/Swiss-Prot
  2.130.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000135801 GTEx
HGNC ID HGNC:17304 ENTREZGENE
Human Proteome Map TAF5L Human Proteome Map
InterPro G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot
  TFIID_NTD2 UniProtKB/Swiss-Prot
  TFIID_NTD2_sf UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
  WD40_repeat UniProtKB/Swiss-Prot
  WD40_repeat_CS UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:27097 UniProtKB/Swiss-Prot
NCBI Gene 27097 ENTREZGENE
PANTHER PTHR19879 UniProtKB/Swiss-Prot
  PTHR19879:SF6 UniProtKB/Swiss-Prot
Pfam TFIID_NTD2 UniProtKB/Swiss-Prot
  WD40 UniProtKB/Swiss-Prot
PharmGKB PA38223 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot
  WD_REPEATS_2 UniProtKB/Swiss-Prot
  WD_REPEATS_REGION UniProtKB/Swiss-Prot
SMART WD40 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF160897 UniProtKB/Swiss-Prot
  SSF50978 UniProtKB/Swiss-Prot
UniProt O75529 ENTREZGENE
  Q5TDI5 ENTREZGENE
  Q5TDI6 ENTREZGENE
  Q5TDI7_HUMAN UniProtKB/TrEMBL
  Q8IW31 ENTREZGENE
  TAF5L_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5TDI5 UniProtKB/Swiss-Prot
  Q5TDI6 UniProtKB/Swiss-Prot
  Q8IW31 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TAF5L  TATA-box binding protein associated factor 5 like  TAF5L  TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa  Symbol and/or name change 5135510 APPROVED