TAF7L (TATA-box binding protein associated factor 7 like) - Rat Genome Database

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Gene: TAF7L (TATA-box binding protein associated factor 7 like) Homo sapiens
Analyze
Symbol: TAF7L
Name: TATA-box binding protein associated factor 7 like
RGD ID: 1350801
HGNC Page HGNC:11548
Description: Predicted to contribute to RNA polymerase II general transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to act upstream of or within flagellated sperm motility and spermatid development. Predicted to be located in male germ cell nucleus. Predicted to be part of transcription factor TFIID complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cancer/testis antigen 40; CT40; dJ738A13.1; FLJ23157; RNA polymerase II TBP-associated factor subunit Q; TAF2Q; TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa; TATA box binding protein associated factor 7 like; TATA box-binding protein-associated factor 50 kDa; TBP-associated factor, RNA polymerase II, Q; transcription initiation factor TFIID 50 kDa subunit; transcription initiation factor TFIID subunit 7-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X101,268,257 - 101,293,083 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX101,268,253 - 101,293,057 (-)EnsemblGRCh38hg38GRCh38
GRCh37X100,523,245 - 100,548,071 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,409,897 - 100,434,701 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X100,329,386 - 100,354,190NCBI
CeleraX101,042,015 - 101,067,533 (-)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX90,326,711 - 90,351,477 (-)NCBIHuRef
CHM1_1X100,417,044 - 100,441,569 (-)NCBICHM1_1
T2T-CHM13v2.0X99,712,369 - 99,751,819 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:11279525   PMID:12477932   PMID:12665565   PMID:16344560   PMID:16597641   PMID:17643375   PMID:17714218   PMID:18029348   PMID:21832049   PMID:21873635   PMID:23292864   PMID:23602568  
PMID:25098277   PMID:25798074   PMID:26107214   PMID:28514442   PMID:29307603   PMID:30021884   PMID:31753913   PMID:32296183   PMID:33961781   PMID:35554494   PMID:36068176   PMID:36714566  


Genomics

Comparative Map Data
TAF7L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X101,268,257 - 101,293,083 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX101,268,253 - 101,293,057 (-)EnsemblGRCh38hg38GRCh38
GRCh37X100,523,245 - 100,548,071 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,409,897 - 100,434,701 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X100,329,386 - 100,354,190NCBI
CeleraX101,042,015 - 101,067,533 (-)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX90,326,711 - 90,351,477 (-)NCBIHuRef
CHM1_1X100,417,044 - 100,441,569 (-)NCBICHM1_1
T2T-CHM13v2.0X99,712,369 - 99,751,819 (-)NCBIT2T-CHM13v2.0
Taf7l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X133,360,865 - 133,377,254 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX133,360,867 - 133,377,239 (-)EnsemblGRCm39 Ensembl
GRCm38X134,460,116 - 134,476,505 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,460,118 - 134,476,490 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X130,994,655 - 131,011,029 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X129,806,469 - 129,822,644 (-)NCBIMGSCv36mm8
CeleraX117,338,620 - 117,355,092 (-)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX56.18NCBI
Taf7l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X101,953,508 - 101,968,336 (-)NCBIGRCr8
mRatBN7.2X97,660,222 - 97,675,241 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX97,660,222 - 97,675,023 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX99,334,442 - 99,349,219 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X102,844,839 - 102,859,624 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X100,347,599 - 100,362,376 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X105,292,338 - 105,308,554 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX105,292,338 - 105,308,554 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X105,183,229 - 105,199,248 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X121,935,672 - 121,950,719 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX98,701,715 - 98,716,468 (-)NCBICelera
Cytogenetic MapXq32NCBI
Taf7l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555037,429,876 - 7,451,051 (-)NCBIChiLan1.0ChiLan1.0
TAF7L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X100,868,104 - 100,897,866 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X100,871,714 - 100,897,257 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X90,471,354 - 90,496,618 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X100,607,488 - 100,631,301 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX100,607,488 - 100,631,301 (-)Ensemblpanpan1.1panPan2
TAF7L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X75,219,448 - 75,238,309 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX75,220,248 - 75,239,041 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X76,642,213 - 76,661,089 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX76,642,205 - 76,661,681 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X74,203,965 - 74,222,831 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X75,864,367 - 75,883,225 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X75,626,775 - 75,645,651 (-)NCBIUU_Cfam_GSD_1.0
Taf7l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,096,626 - 63,134,131 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936813357,571 - 372,736 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936813357,571 - 378,479 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAF7L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,930,266 - 82,951,224 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X82,930,258 - 82,951,065 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X90,962,646 - 90,983,465 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TAF7L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,610,238 - 89,636,238 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX89,611,208 - 89,635,921 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606514,526,792 - 14,552,570 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Taf7l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249021,243,817 - 1,256,209 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249021,239,776 - 1,267,443 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TAF7L
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_024885.4(TAF7L):c.213C>T (p.Ala71=) single nucleotide variant not provided [RCV000087239] ChrX:101292833 [GRCh38]
ChrX:100547821 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_024885.4(TAF7L):c.128A>G (p.Tyr43Cys) single nucleotide variant Inborn genetic diseases [RCV003189385] ChrX:101292918 [GRCh38]
ChrX:100547906 [GRCh37]
ChrX:Xq22.1
likely benign
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2 copy number gain See cases [RCV000143738] ChrX:100861647..101426591 [GRCh38]
ChrX:100116636..100681579 [GRCh37]
ChrX:100003292..100568235 [NCBI36]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3 copy number gain not provided [RCV000585467] ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001168474.2(TAF7L):c.17A>G (p.Asp6Gly) single nucleotide variant Inborn genetic diseases [RCV003253093] ChrX:101287527 [GRCh38]
ChrX:100542515 [GRCh37]
ChrX:Xq22.1
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001168474.2(TAF7L):c.1127A>G (p.Lys376Arg) single nucleotide variant Inborn genetic diseases [RCV003289944] ChrX:101269197 [GRCh38]
ChrX:100524185 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001168474.2(TAF7L):c.1115G>A (p.Arg372His) single nucleotide variant not provided [RCV001572638] ChrX:101269209 [GRCh38]
ChrX:100524197 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001168474.2(TAF7L):c.14A>G (p.Gln5Arg) single nucleotide variant not provided [RCV000762662] ChrX:101287530 [GRCh38]
ChrX:100542518 [GRCh37]
ChrX:Xq22.1
likely benign
NM_024885.4(TAF7L):c.210C>T (p.Ser70=) single nucleotide variant not provided [RCV000967608] ChrX:101292836 [GRCh38]
ChrX:100547824 [GRCh37]
ChrX:Xq22.1
benign
NM_024885.4(TAF7L):c.181G>A (p.Glu61Lys) single nucleotide variant not provided [RCV000971245] ChrX:101292865 [GRCh38]
ChrX:100547853 [GRCh37]
ChrX:Xq22.1
benign
GRCh37/hg19 Xq22.1(chrX:100183898-100809683)x4 copy number gain not provided [RCV000996091] ChrX:100183898..100809683 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2 copy number gain not provided [RCV000846413] ChrX:99858358..100772721 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_024885.4(TAF7L):c.106G>T (p.Asp36Tyr) single nucleotide variant Inborn genetic diseases [RCV003241142] ChrX:101292940 [GRCh38]
ChrX:100547928 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168474.2(TAF7L):c.375G>A (p.Gly125=) single nucleotide variant not provided [RCV000958326] ChrX:101282358 [GRCh38]
ChrX:100537346 [GRCh37]
ChrX:Xq22.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2 copy number gain not provided [RCV001007327] ChrX:99910467..100704219 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.10:g.(?_99551275)_(101097764_?)dup duplication Developmental and epileptic encephalopathy, 9 [RCV003109223]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003119228] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_99917153)_(100662891_?)dup duplication Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001871045] ChrX:99917153..100662891 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99842716-100570618) copy number gain not specified [RCV002053163] ChrX:99842716..100570618 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3 copy number gain not provided [RCV001834163] ChrX:99589130..102138180 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1(chrX:100450474-100639625) copy number loss not specified [RCV002053164] ChrX:100450474..100639625 [GRCh37]
ChrX:Xq22.1
pathogenic
NC_000023.10:g.(?_99551275)_(100663464_?)del deletion Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001970672] ChrX:99551275..100663464 [GRCh37]
ChrX:Xq22.1
uncertain significance
NC_000023.10:g.(?_99551275)_(101097764_?)del deletion not provided [RCV003113386] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1
pathogenic
NC_000023.10:g.(?_100499986)_(100662891_?)del deletion Fabry disease [RCV003122104] ChrX:100499986..100662891 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24
pathogenic
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24
pathogenic
NM_001168474.2(TAF7L):c.551G>A (p.Arg184His) single nucleotide variant Inborn genetic diseases [RCV002969143] ChrX:101278075 [GRCh38]
ChrX:100533063 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168474.2(TAF7L):c.608A>G (p.Lys203Arg) single nucleotide variant Inborn genetic diseases [RCV002759057] ChrX:101277689 [GRCh38]
ChrX:100532677 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168474.2(TAF7L):c.676G>A (p.Gly226Ser) single nucleotide variant Inborn genetic diseases [RCV002954599] ChrX:101277621 [GRCh38]
ChrX:100532609 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168474.2(TAF7L):c.236C>T (p.Thr79Met) single nucleotide variant Inborn genetic diseases [RCV002965140] ChrX:101283493 [GRCh38]
ChrX:100538481 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_024885.4(TAF7L):c.232C>T (p.Pro78Ser) single nucleotide variant Inborn genetic diseases [RCV002814142] ChrX:101292814 [GRCh38]
ChrX:100547802 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168474.2(TAF7L):c.523G>A (p.Val175Met) single nucleotide variant Inborn genetic diseases [RCV003210161] ChrX:101278103 [GRCh38]
ChrX:100533091 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_024885.4(TAF7L):c.154G>A (p.Asp52Asn) single nucleotide variant Inborn genetic diseases [RCV003350183] ChrX:101292892 [GRCh38]
ChrX:100547880 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168474.2(TAF7L):c.361A>G (p.Lys121Glu) single nucleotide variant Inborn genetic diseases [RCV003342357] ChrX:101282372 [GRCh38]
ChrX:100537360 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168474.2(TAF7L):c.645G>T (p.Leu215Phe) single nucleotide variant Inborn genetic diseases [RCV003344295] ChrX:101277652 [GRCh38]
ChrX:100532640 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168474.2(TAF7L):c.97C>T (p.Arg33Cys) single nucleotide variant Inborn genetic diseases [RCV003342716] ChrX:101286623 [GRCh38]
ChrX:100541611 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168474.2(TAF7L):c.1102G>A (p.Glu368Lys) single nucleotide variant Inborn genetic diseases [RCV003350868] ChrX:101269222 [GRCh38]
ChrX:100524210 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25
pathogenic
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 copy number gain not provided [RCV003485308] ChrX:96349060..106950847 [GRCh37]
ChrX:Xq21.33-22.3
pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24
pathogenic
NM_001168474.2(TAF7L):c.653C>T (p.Ser218Leu) single nucleotide variant Inborn genetic diseases [RCV003344859] ChrX:101277644 [GRCh38]
ChrX:100532632 [GRCh37]
ChrX:Xq22.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1958
Count of miRNA genes:638
Interacting mature miRNAs:691
Transcripts:ENST00000324762, ENST00000356784, ENST00000372905, ENST00000372907
Prediction methods:Miranda, Pita, 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
RH92089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,523,384 - 100,523,526UniSTSGRCh37
Build 36X100,410,040 - 100,410,182RGDNCBI36
CeleraX101,042,158 - 101,042,300RGD
Cytogenetic MapXq22.1UniSTS
HuRefX90,326,854 - 90,326,996UniSTS
GeneMap99-GB4 RH MapX272.75UniSTS
D20S151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37201,772,205 - 1,772,491UniSTSGRCh37
GRCh37X100,523,894 - 100,524,587UniSTSGRCh37
Build 36201,720,205 - 1,720,491RGDNCBI36
CeleraX101,042,668 - 101,043,361UniSTS
Celera201,836,306 - 1,836,592RGD
Cytogenetic MapXq22.1UniSTS
HuRef201,722,169 - 1,722,455UniSTS
HuRefX90,327,364 - 90,328,057UniSTS
DXS9715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,529,053 - 100,529,188UniSTSGRCh37
Build 36X100,415,709 - 100,415,844RGDNCBI36
CeleraX101,048,524 - 101,048,659RGD
Cytogenetic MapXq22.1UniSTS
TNG Radiation Hybrid MapX22107.0UniSTS
Stanford-G3 RH MapX3218.0UniSTS
TAF7L_3597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,523,184 - 100,523,995UniSTSGRCh37
Build 36X100,409,840 - 100,410,651RGDNCBI36
CeleraX101,041,958 - 101,042,769RGD
HuRefX90,326,654 - 90,327,465UniSTS
G65769  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq22.1UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 5 2 387 9 1
Low 401 236 404 213 90 205 1616 49 1708 135 428 139 9 138 935 3
Below cutoff 1824 2034 1187 376 1118 227 2453 1707 1851 228 600 1262 158 1010 1607 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF285595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB042169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB455298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z68331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000324762   ⟹   ENSP00000320283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,268,257 - 101,287,805 (-)Ensembl
RefSeq Acc Id: ENST00000356784   ⟹   ENSP00000349235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,268,257 - 101,291,334 (-)Ensembl
RefSeq Acc Id: ENST00000372907   ⟹   ENSP00000361998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,268,253 - 101,293,057 (-)Ensembl
RefSeq Acc Id: NM_001168474   ⟹   NP_001161946
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,268,257 - 101,291,334 (-)NCBI
GRCh37X100,523,241 - 100,548,059 (-)RGD
CeleraX101,042,015 - 101,067,533 (-)RGD
HuRefX90,326,711 - 90,351,477 (-)RGD
CHM1_1X100,417,044 - 100,439,834 (-)NCBI
T2T-CHM13v2.0X99,712,369 - 99,735,449 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410720   ⟹   NP_001397649
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,268,257 - 101,291,334 (-)NCBI
T2T-CHM13v2.0X99,712,369 - 99,735,449 (-)NCBI
RefSeq Acc Id: NM_024885   ⟹   NP_079161
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,268,257 - 101,293,083 (-)NCBI
GRCh37X100,523,241 - 100,548,059 (-)RGD
Build 36X100,409,897 - 100,434,701 (-)NCBI Archive
CeleraX101,042,015 - 101,067,533 (-)RGD
HuRefX90,326,711 - 90,351,477 (-)RGD
CHM1_1X100,417,044 - 100,441,569 (-)NCBI
T2T-CHM13v2.0X99,712,369 - 99,737,199 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262152   ⟹   XP_005262209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,268,257 - 101,291,334 (-)NCBI
GRCh37X100,523,241 - 100,548,059 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724664   ⟹   XP_006724727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,268,257 - 101,293,083 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054327263   ⟹   XP_054183238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,712,369 - 99,751,819 (-)NCBI
RefSeq Acc Id: XM_054327264   ⟹   XP_054183239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,712,369 - 99,751,819 (-)NCBI
RefSeq Acc Id: XM_054327265   ⟹   XP_054183240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,712,369 - 99,735,449 (-)NCBI
RefSeq Acc Id: NP_079161   ⟸   NM_024885
- Peptide Label: isoform 1
- UniProtKB: Q9BXU5 (UniProtKB/Swiss-Prot),   Q86XI4 (UniProtKB/Swiss-Prot),   Q5H9L6 (UniProtKB/Swiss-Prot),   Q9H5R0 (UniProtKB/Swiss-Prot),   Q5H9L4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161946   ⟸   NM_001168474
- Peptide Label: isoform 2
- UniProtKB: Q5H9L4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262209   ⟸   XM_005262152
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724727   ⟸   XM_006724664
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000361998   ⟸   ENST00000372907
RefSeq Acc Id: ENSP00000320283   ⟸   ENST00000324762
RefSeq Acc Id: ENSP00000349235   ⟸   ENST00000356784
RefSeq Acc Id: NP_001397649   ⟸   NM_001410720
- Peptide Label: isoform 3
RefSeq Acc Id: XP_054183239   ⟸   XM_054327264
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054183238   ⟸   XM_054327263
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183240   ⟸   XM_054327265
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5H9L4-F1-model_v2 AlphaFold Q5H9L4 1-462 view protein structure

Promoters
RGD ID:13627614
Promoter ID:EPDNEW_H29082
Type:initiation region
Name:TAF7L_1
Description:TATA-box binding protein associated factor 7 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
GRCh38X101,291,334 - 101,291,394EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11548 AgrOrtholog
COSMIC TAF7L COSMIC
Ensembl Genes ENSG00000102387 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000324762 ENTREZGENE
  ENST00000324762.10 UniProtKB/Swiss-Prot
  ENST00000356784 ENTREZGENE
  ENST00000356784.2 UniProtKB/Swiss-Prot
  ENST00000372907 ENTREZGENE
  ENST00000372907.7 UniProtKB/Swiss-Prot
GTEx ENSG00000102387 GTEx
HGNC ID HGNC:11548 ENTREZGENE
Human Proteome Map TAF7L Human Proteome Map
InterPro TAF7 UniProtKB/Swiss-Prot
  TAFII55_prot_cons_reg UniProtKB/Swiss-Prot
KEGG Report hsa:54457 UniProtKB/Swiss-Prot
NCBI Gene 54457 ENTREZGENE
OMIM 300314 OMIM
PANTHER PTHR12228 UniProtKB/Swiss-Prot
  TRANSCRIPTION INITIATION FACTOR TFIID SUBUNIT 7-LIKE UniProtKB/Swiss-Prot
Pfam TAFII55_N UniProtKB/Swiss-Prot
PharmGKB PA36323 PharmGKB
SMART TAFII55_N UniProtKB/Swiss-Prot
UniProt L8E974_HUMAN UniProtKB/TrEMBL
  Q5H9L4 ENTREZGENE
  Q5H9L6 ENTREZGENE
  Q86XI4 ENTREZGENE
  Q9BXU5 ENTREZGENE
  Q9H5R0 ENTREZGENE
  TAF7L_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5H9L6 UniProtKB/Swiss-Prot
  Q86XI4 UniProtKB/Swiss-Prot
  Q9BXU5 UniProtKB/Swiss-Prot
  Q9H5R0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TAF7L  TATA-box binding protein associated factor 7 like  TAF7L  TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa  Symbol and/or name change 5135510 APPROVED