FAM156A (family with sequence similarity 156 member A) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: FAM156A (family with sequence similarity 156 member A) Homo sapiens
Analyze
Symbol: FAM156A (Ensembl: FAM156B)
Name: family with sequence similarity 156 member A (Ensembl:family with sequence similarity 156 member B)
RGD ID: 1346543
HGNC Page HGNC:30114
Description: Predicted to enable methylated histone binding activity. Located in nuclear envelope.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp686B22211; FAM156B; family with sequence similarity 156, member A; PRO0659; protein FAM156A/FAM156B; TMEM29; transmembrane protein 29; transmembrane protein 29/29B
RGD Orthologs
Mouse
Chinchilla
Bonobo
Dog
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC231759.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X52,947,254 - 52,995,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX52,926,402 - 52,995,472 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblX52,891,306 - 52,908,560 (+)EnsemblGRCh38hg38GRCh38
GRCh37X52,976,462 - 53,024,651 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X52,993,187 - 53,002,901 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X52,859,486 - 52,869,197NCBI
CeleraX56,750,404 - 56,760,120 (+)NCBICelera
Cytogenetic MapXp11.22NCBI
HuRefX50,038,171 - 50,088,027 (-)NCBIHuRef
CHM1_1X52,966,786 - 53,014,880 (-)NCBICHM1_1
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:14702039   PMID:15489334   PMID:15489336   PMID:15772651   PMID:16189514   PMID:16344560   PMID:16381901   PMID:16712791   PMID:25416956  
PMID:26760575   PMID:32296183  


Genomics

Comparative Map Data
FAM156A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X52,947,254 - 52,995,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX52,926,402 - 52,995,472 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblX52,891,306 - 52,908,560 (+)EnsemblGRCh38hg38GRCh38
GRCh37X52,976,462 - 53,024,651 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X52,993,187 - 53,002,901 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X52,859,486 - 52,869,197NCBI
CeleraX56,750,404 - 56,760,120 (+)NCBICelera
Cytogenetic MapXp11.22NCBI
HuRefX50,038,171 - 50,088,027 (-)NCBIHuRef
CHM1_1X52,966,786 - 53,014,880 (-)NCBICHM1_1
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBIT2T-CHM13v2.0
Vcf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,180,771 - 149,250,327 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX149,180,769 - 149,242,150 (-)EnsemblGRCm39 Ensembl
GRCm38X150,397,775 - 150,495,036 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX150,397,773 - 150,459,154 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X146,832,316 - 146,893,693 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X145,749,294 - 145,781,822 (-)NCBIMGSCv36mm8
CeleraX133,945,459 - 134,004,497 (+)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Fam156a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495547568,381 - 69,763 (-)NCBIChiLan1.0ChiLan1.0
FAM156A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X54,326,051 - 54,396,162 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X54,329,260 - 54,399,767 (-)NCBINHGRI_mPanPan1
FAM156A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X44,702,675 - 44,825,693 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX36,319,288 - 36,368,602 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X45,095,348 - 45,162,672 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1X44,590,725 - 44,657,946 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X45,040,337 - 45,107,574 (-)NCBIUNSW_CanFamBas_1.0


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)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 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 Xp11.23-11.22(chrX:50086006-54030240)x1 copy number loss See cases [RCV000051663] ChrX:50086006..54030240 [GRCh38]
ChrX:49850663..53957191 [GRCh37]
ChrX:49737403..54073398 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21		 pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1		 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: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 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 Xp11.22(chrX:50916108-53902080)x2 copy number gain See cases [RCV000052391] ChrX:50916108..53902080 [GRCh38]
ChrX:50659108..53928500 [GRCh37]
ChrX:50675848..53945225 [NCBI36]
ChrX:Xp11.22		 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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 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
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 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)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: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: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: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 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: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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21		 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 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22		 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 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 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 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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21		 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 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 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 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
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 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 Xp11.22(chrX:52975325-53610511)x3 copy number gain See cases [RCV000138363] ChrX:52975325..53610511 [GRCh38]
ChrX:53004505..53637472 [GRCh37]
ChrX:53021230..53654197 [NCBI36]
ChrX:Xp11.22		 uncertain significance
GRCh38/hg38 Xp11.22(chrX:51701448-53065696)x0 copy number loss See cases [RCV000138538] ChrX:51701448..53065696 [GRCh38]
ChrX:51436667..53047381 [GRCh37]
ChrX:51453407..53111603 [NCBI36]
ChrX:Xp11.22		 uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1		 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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 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 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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22		 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 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22		 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 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12		 pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1		 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 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2		 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 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 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 Xp11.22(chrX:51707794-53229764)x0 copy number loss See cases [RCV000143765] ChrX:51707794..53229764 [GRCh38]
ChrX:51450890..53258946 [GRCh37]
ChrX:51467630..53275671 [NCBI36]
ChrX:Xp11.22		 pathogenic
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 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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 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 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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
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 Xp11.22(chrX:52923471-53765589)x2 copy number gain Intellectual disability [RCV001270430] ChrX:52923471..53765589 [GRCh37]
ChrX:Xp11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21		 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 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21		 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 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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-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: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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1		 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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21		 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 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
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 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
GRCh37/hg19 Xp11.22(chrX:53014126-53234484)x1 copy number loss not provided [RCV000753541] ChrX:53014126..53234484 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 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
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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
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
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 pathogenic
GRCh37/hg19 Xp11.22(chrX:51476578-53087050)x0 copy number loss not provided [RCV000848734] ChrX:51476578..53087050 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2 copy number gain not provided [RCV001537899] ChrX:47179068..54424785 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
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
GRCh37/hg19 Xp11.22-11.21(chrX:52901458-55684871)x2 copy number gain not provided [RCV001834255] ChrX:52901458..55684871 [GRCh37]
ChrX:Xp11.22-11.21		 pathogenic
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 Xp11.22-11.21(chrX:52881435-55684871) copy number gain not specified [RCV002053131] ChrX:52881435..55684871 [GRCh37]
ChrX:Xp11.22-11.21		 likely pathogenic
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 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:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.22(chrX:52923472-53289919)x2 copy number gain not provided [RCV002475838] ChrX:52923472..53289919 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 copy number loss not provided [RCV003483920] ChrX:36355238..54106257 [GRCh37]
ChrX:Xp21.1-11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6825
Count of miRNA genes:1171
Interacting mature miRNAs:1473
Transcripts:ENST00000316310, ENST00000330025, ENST00000356333, ENST00000375473, ENST00000411516, ENST00000414076, ENST00000416923, ENST00000438003, ENST00000447562, ENST00000451084, ENST00000475552, ENST00000493931, ENST00000503775, ENST00000505062, ENST00000505988, ENST00000510517, ENST00000510893, ENST00000511863, ENST00000512364, ENST00000515858
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
WI-18679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X52,976,485 - 52,976,621UniSTSGRCh37
GRCh37X52,937,428 - 52,937,564UniSTSGRCh37
Build 36X52,954,153 - 52,954,289RGDNCBI36
CeleraX56,759,961 - 56,760,097RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,038,194 - 50,038,330UniSTS
GeneMap99-GB4 RH MapX166.73UniSTS
Whitehead-RH MapX96.1UniSTS
AF020134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X52,986,541 - 52,986,645UniSTSGRCh37
GRCh37X52,927,393 - 52,927,497UniSTSGRCh37
Build 36X52,944,118 - 52,944,222RGDNCBI36
CeleraX56,749,935 - 56,750,039RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,048,261 - 50,048,365UniSTS
TMEM29_9572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X52,976,414 - 52,977,208UniSTSGRCh37
GRCh37X52,936,841 - 52,937,635UniSTSGRCh37
Build 36X52,953,566 - 52,954,360RGDNCBI36
CeleraX56,759,374 - 56,760,168RGD
HuRefX50,038,123 - 50,038,917UniSTS
IB3700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X52,976,550 - 52,976,840UniSTSGRCh37
GRCh37X52,937,209 - 52,937,499UniSTSGRCh37
Build 36X52,953,934 - 52,954,224RGDNCBI36
CeleraX56,759,742 - 56,760,032RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,038,259 - 50,038,549UniSTS
GeneMap99-GB4 RH MapX166.56UniSTS
Whitehead-RH MapX96.7UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001242489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC234031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF090943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF370413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL807736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI829697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU192418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB139342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA256347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA347198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA368012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA371625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA572135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA685609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA691898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA849151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000416841   ⟹   ENSP00000424864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,897,330 - 52,908,560 (+)Ensembl
Ensembl Acc Id: ENST00000509613   ⟹   ENSP00000422411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,899,383 - 52,908,560 (+)Ensembl
Ensembl Acc Id: ENST00000593751   ⟹   ENSP00000469248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,897,400 - 52,908,556 (+)Ensembl
Ensembl Acc Id: ENST00000596733   ⟹   ENSP00000471676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,258 - 52,958,414 (-)Ensembl
Ensembl Acc Id: ENST00000610405   ⟹   ENSP00000484983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,891,306 - 52,907,374 (+)Ensembl
Ensembl Acc Id: ENST00000610609   ⟹   ENSP00000479752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,896,941 - 52,907,236 (+)Ensembl
Ensembl Acc Id: ENST00000610625   ⟹   ENSP00000484486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,995,372 (-)Ensembl
Ensembl Acc Id: ENST00000611661   ⟹   ENSP00000480518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,995,464 (-)Ensembl
Ensembl Acc Id: ENST00000612083   ⟹   ENSP00000484967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,995,443 (-)Ensembl
Ensembl Acc Id: ENST00000612188   ⟹   ENSP00000482608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,897,306 - 52,907,613 (+)Ensembl
Ensembl Acc Id: ENST00000612846   ⟹   ENSP00000479348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,957,659 (-)Ensembl
Ensembl Acc Id: ENST00000612915   ⟹   ENSP00000484167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,258 - 52,995,472 (-)Ensembl
Ensembl Acc Id: ENST00000613284   ⟹   ENSP00000480373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,926,402 - 52,958,494 (-)Ensembl
Ensembl Acc Id: ENST00000615092   ⟹   ENSP00000479184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,258 - 52,995,472 (-)Ensembl
Ensembl Acc Id: ENST00000615171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,965,450 - 52,995,472 (-)Ensembl
Ensembl Acc Id: ENST00000616235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,956,279 - 52,964,508 (-)Ensembl
Ensembl Acc Id: ENST00000616419   ⟹   ENSP00000483008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,897,313 - 52,908,560 (+)Ensembl
Ensembl Acc Id: ENST00000616592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,948,595 - 52,995,455 (-)Ensembl
Ensembl Acc Id: ENST00000617970   ⟹   ENSP00000481435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,958,501 (-)Ensembl
Ensembl Acc Id: ENST00000618601   ⟹   ENSP00000482980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,964,214 (-)Ensembl
Ensembl Acc Id: ENST00000619346   ⟹   ENSP00000478064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,891,600 - 52,907,393 (+)Ensembl
Ensembl Acc Id: ENST00000619373   ⟹   ENSP00000484757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,958,873 (-)Ensembl
Ensembl Acc Id: ENST00000619518   ⟹   ENSP00000482562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,958,518 (-)Ensembl
Ensembl Acc Id: ENST00000619586   ⟹   ENSP00000479822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,957,247 (-)Ensembl
Ensembl Acc Id: ENST00000619897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,955,155 - 52,995,472 (-)Ensembl
Ensembl Acc Id: ENST00000622197   ⟹   ENSP00000481568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,958,446 (-)Ensembl
Ensembl Acc Id: ENST00000622323   ⟹   ENSP00000477905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,995,453 (-)Ensembl
Ensembl Acc Id: ENST00000622430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,965,573 - 52,995,472 (-)Ensembl
Ensembl Acc Id: ENST00000622447   ⟹   ENSP00000482142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,958,518 (-)Ensembl
Ensembl Acc Id: ENST00000622732   ⟹   ENSP00000479338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,254 - 52,995,455 (-)Ensembl
Ensembl Acc Id: ENST00000623782   ⟹   ENSP00000485247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,947,258 - 52,995,472 (-)Ensembl
RefSeq Acc Id: NM_001242489   ⟹   NP_001229418
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,247 - 52,927,712 (+)NCBI
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242490   ⟹   NP_001229419
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,252 - 52,927,712 (+)NCBI
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242491   ⟹   NP_001229420
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,518 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,916,466 - 52,927,712 (+)NCBI
T2T-CHM13v2.0X52,231,792 - 52,243,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242492   ⟹   NP_001229421
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,910,751 - 52,927,712 (+)NCBI
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242493   ⟹   NP_001229422
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,917,764 - 52,927,712 (+)NCBI
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242494   ⟹   NP_001229423
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,644 - 52,927,712 (+)NCBI
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242495   ⟹   NP_001229424
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,644 - 52,927,712 (+)NCBI
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242496   ⟹   NP_001229425
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,661 - 52,927,712 (+)NCBI
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242497   ⟹   NP_001229426
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,661 - 52,927,712 (+)NCBI
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377060   ⟹   NP_001363989
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,473 (-)NCBI
T2T-CHM13v2.0X52,231,792 - 52,243,001 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377061   ⟹   NP_001363990
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,569 (-)NCBI
T2T-CHM13v2.0X52,231,792 - 52,243,097 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377062   ⟹   NP_001363991
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,571 (-)NCBI
T2T-CHM13v2.0X52,231,792 - 52,243,099 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377063   ⟹   NP_001363992
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,497 (-)NCBI
T2T-CHM13v2.0X52,231,792 - 52,243,025 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387706   ⟹   NP_001374635
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,518 (-)NCBI
T2T-CHM13v2.0X52,231,792 - 52,243,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014138   ⟹   NP_054857
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
Build 36X52,993,187 - 53,002,901 (-)NCBI Archive
CeleraX56,750,404 - 56,760,120 (+)RGD
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,917,764 - 52,927,712 (+)NCBI
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029457   ⟹   XP_016884946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442032   ⟹   XP_047297988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,473 (-)NCBI
RefSeq Acc Id: XM_047442033   ⟹   XP_047297989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,505 (-)NCBI
RefSeq Acc Id: XM_047442034   ⟹   XP_047297990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,967,790 (-)NCBI
RefSeq Acc Id: XM_047442035   ⟹   XP_047297991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,387 (-)NCBI
RefSeq Acc Id: XM_047442036   ⟹   XP_047297992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,967,790 (-)NCBI
RefSeq Acc Id: XM_047442037   ⟹   XP_047297993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,473 (-)NCBI
RefSeq Acc Id: XM_054326914   ⟹   XP_054182889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X52,231,792 - 52,243,001 (-)NCBI
RefSeq Acc Id: XM_054326915   ⟹   XP_054182890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X52,231,792 - 52,243,033 (-)NCBI
RefSeq Acc Id: XM_054326916   ⟹   XP_054182891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
RefSeq Acc Id: XM_054326917   ⟹   XP_054182892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X52,231,792 - 52,252,308 (-)NCBI
RefSeq Acc Id: XM_054326918   ⟹   XP_054182893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X52,231,792 - 52,242,915 (-)NCBI
RefSeq Acc Id: XM_054326919   ⟹   XP_054182894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X52,231,792 - 52,279,984 (-)NCBI
RefSeq Acc Id: XM_054326920   ⟹   XP_054182895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X52,231,792 - 52,243,001 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001229418 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229419 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229420 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229421 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229422 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229423 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229424 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229425 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229426 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363989 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363990 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363991 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363992 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374635 (Get FASTA)   NCBI Sequence Viewer  
  NP_054857 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884946 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297988 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297989 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297990 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297991 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297992 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297993 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182889 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182890 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182891 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182892 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182893 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182894 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182895 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF24055 (Get FASTA)   NCBI Sequence Viewer  
  AAH00867 (Get FASTA)   NCBI Sequence Viewer  
  AAH67819 (Get FASTA)   NCBI Sequence Viewer  
  AAQ15249 (Get FASTA)   NCBI Sequence Viewer  
  BAG51954 (Get FASTA)   NCBI Sequence Viewer  
  BAG52539 (Get FASTA)   NCBI Sequence Viewer  
  BAG53221 (Get FASTA)   NCBI Sequence Viewer  
  CAD38851 (Get FASTA)   NCBI Sequence Viewer  
  CAH18413 (Get FASTA)   NCBI Sequence Viewer  
  EAW57547 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000422411.1
  ENSP00000424864.1
  ENSP00000469248.1
  ENSP00000471676
  ENSP00000471676.1
  ENSP00000477905
  ENSP00000477905.2
  ENSP00000478064.1
  ENSP00000479184
  ENSP00000479184.1
  ENSP00000479338
  ENSP00000479338.2
  ENSP00000479348
  ENSP00000479348.2
  ENSP00000479822
  ENSP00000479822.2
  ENSP00000480373
  ENSP00000480373.1
  ENSP00000480518
  ENSP00000480518.1
  ENSP00000481435
  ENSP00000481435.1
  ENSP00000481568
  ENSP00000481568.2
  ENSP00000482142
  ENSP00000482142.1
  ENSP00000482562
  ENSP00000482562.2
  ENSP00000482980
  ENSP00000482980.2
  ENSP00000483008.1
  ENSP00000484167
  ENSP00000484167.1
  ENSP00000484486.2
  ENSP00000484757
  ENSP00000484757.2
  ENSP00000484967
  ENSP00000484967.2
  ENSP00000485247
  ENSP00000485247.1
GenBank Protein Q8NDB6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_054857   ⟸   NM_014138
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229426   ⟸   NM_001242497
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229425   ⟸   NM_001242496
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229419   ⟸   NM_001242490
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229422   ⟸   NM_001242493
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229424   ⟸   NM_001242495
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229423   ⟸   NM_001242494
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229418   ⟸   NM_001242489
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229421   ⟸   NM_001242492
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229420   ⟸   NM_001242491
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884946   ⟸   XM_017029457
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001363991   ⟸   NM_001377062
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363990   ⟸   NM_001377061
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363992   ⟸   NM_001377063
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363989   ⟸   NM_001377060
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000471676   ⟸   ENST00000596733
Ensembl Acc Id: ENSP00000482142   ⟸   ENST00000622447
Ensembl Acc Id: ENSP00000477905   ⟸   ENST00000622323
Ensembl Acc Id: ENSP00000481568   ⟸   ENST00000622197
Ensembl Acc Id: ENSP00000479338   ⟸   ENST00000622732
Ensembl Acc Id: ENSP00000485247   ⟸   ENST00000623782
Ensembl Acc Id: ENSP00000484486   ⟸   ENST00000610625
Ensembl Acc Id: ENSP00000480518   ⟸   ENST00000611661
Ensembl Acc Id: ENSP00000484967   ⟸   ENST00000612083
Ensembl Acc Id: ENSP00000484167   ⟸   ENST00000612915
Ensembl Acc Id: ENSP00000479348   ⟸   ENST00000612846
Ensembl Acc Id: ENSP00000480373   ⟸   ENST00000613284
Ensembl Acc Id: ENSP00000479184   ⟸   ENST00000615092
Ensembl Acc Id: ENSP00000481435   ⟸   ENST00000617970
Ensembl Acc Id: ENSP00000482980   ⟸   ENST00000618601
Ensembl Acc Id: ENSP00000482562   ⟸   ENST00000619518
Ensembl Acc Id: ENSP00000479822   ⟸   ENST00000619586
Ensembl Acc Id: ENSP00000484757   ⟸   ENST00000619373
RefSeq Acc Id: NP_001374635   ⟸   NM_001387706
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297992   ⟸   XM_047442036
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297990   ⟸   XM_047442034
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297989   ⟸   XM_047442033
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297993   ⟸   XM_047442037
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297988   ⟸   XM_047442032
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297991   ⟸   XM_047442035
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   Q9UI49 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000422411   ⟸   ENST00000509613
Ensembl Acc Id: ENSP00000484983   ⟸   ENST00000610405
Ensembl Acc Id: ENSP00000469248   ⟸   ENST00000593751
Ensembl Acc Id: ENSP00000483008   ⟸   ENST00000616419
Ensembl Acc Id: ENSP00000478064   ⟸   ENST00000619346
Ensembl Acc Id: ENSP00000482608   ⟸   ENST00000612188
Ensembl Acc Id: ENSP00000424864   ⟸   ENST00000416841
Ensembl Acc Id: ENSP00000479752   ⟸   ENST00000610609
RefSeq Acc Id: XP_054182894   ⟸   XM_054326919
- Peptide Label: isoform X1
- UniProtKB: Q9UI49 (UniProtKB/Swiss-Prot),   Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182891   ⟸   XM_054326916
- Peptide Label: isoform X1
- UniProtKB: Q9UI49 (UniProtKB/Swiss-Prot),   Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182892   ⟸   XM_054326917
- Peptide Label: isoform X1
- UniProtKB: Q9UI49 (UniProtKB/Swiss-Prot),   Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182890   ⟸   XM_054326915
- Peptide Label: isoform X1
- UniProtKB: Q9UI49 (UniProtKB/Swiss-Prot),   Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182895   ⟸   XM_054326920
- Peptide Label: isoform X1
- UniProtKB: Q9UI49 (UniProtKB/Swiss-Prot),   Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182889   ⟸   XM_054326914
- Peptide Label: isoform X1
- UniProtKB: Q9UI49 (UniProtKB/Swiss-Prot),   Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182893   ⟸   XM_054326918
- Peptide Label: isoform X1
- UniProtKB: Q9UI49 (UniProtKB/Swiss-Prot),   Q8NDB6 (UniProtKB/Swiss-Prot),   Q6NVY3 (UniProtKB/Swiss-Prot),   Q68D17 (UniProtKB/Swiss-Prot),   Q5JPL6 (UniProtKB/Swiss-Prot),   Q5JPL5 (UniProtKB/Swiss-Prot),   Q5JPL4 (UniProtKB/Swiss-Prot),   Q5JPL3 (UniProtKB/Swiss-Prot),   Q5JPL2 (UniProtKB/Swiss-Prot),   B3KQ92 (UniProtKB/Swiss-Prot),   A0A087WVC8 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NDB6-F1-model_v2 AlphaFold Q8NDB6 1-213 view protein structure

Promoters
RGD ID:13605356
Promoter ID:EPDNEW_H28862
Type:initiation region
Name:FAM156A_1
Description:family with sequence similarity 156 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28863  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,958,468 - 52,958,528EPDNEW
RGD ID:13605358
Promoter ID:EPDNEW_H28863
Type:initiation region
Name:FAM156A_2
Description:family with sequence similarity 156 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28862  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,995,472 - 52,995,532EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30114 AgrOrtholog
COSMIC FAM156A COSMIC
Ensembl Genes ENSG00000179304 Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000268350 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000416841.8 UniProtKB/Swiss-Prot
  ENST00000509613.1 UniProtKB/Swiss-Prot
  ENST00000593751.7 UniProtKB/Swiss-Prot
  ENST00000596733 ENTREZGENE
  ENST00000596733.7 UniProtKB/Swiss-Prot
  ENST00000610625.5 UniProtKB/Swiss-Prot
  ENST00000611661 ENTREZGENE
  ENST00000611661.4 UniProtKB/Swiss-Prot
  ENST00000612083 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000612083.5 UniProtKB/Swiss-Prot
  ENST00000612846 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000612846.5 UniProtKB/Swiss-Prot
  ENST00000612915 ENTREZGENE
  ENST00000612915.4 UniProtKB/Swiss-Prot
  ENST00000613284 ENTREZGENE
  ENST00000613284.1 UniProtKB/Swiss-Prot
  ENST00000615092 ENTREZGENE
  ENST00000615092.4 UniProtKB/Swiss-Prot
  ENST00000616419.4 UniProtKB/Swiss-Prot
  ENST00000617970 ENTREZGENE
  ENST00000617970.4 UniProtKB/Swiss-Prot
  ENST00000618601 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000618601.5 UniProtKB/Swiss-Prot
  ENST00000619346.4 UniProtKB/TrEMBL
  ENST00000619373 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000619373.5 UniProtKB/Swiss-Prot
  ENST00000619518 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000619518.5 UniProtKB/Swiss-Prot
  ENST00000619586 ENTREZGENE
  ENST00000619586.5 UniProtKB/Swiss-Prot
  ENST00000622197 UniProtKB/TrEMBL
  ENST00000622197.5 UniProtKB/Swiss-Prot
  ENST00000622323 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000622323.5 UniProtKB/Swiss-Prot
  ENST00000622447 ENTREZGENE
  ENST00000622447.5 UniProtKB/Swiss-Prot
  ENST00000622732 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000622732.5 UniProtKB/Swiss-Prot
  ENST00000623782 ENTREZGENE
  ENST00000623782.3 UniProtKB/Swiss-Prot
GTEx ENSG00000179304 GTEx
  ENSG00000268350 GTEx
HGNC ID HGNC:30114 ENTREZGENE
Human Proteome Map FAM156A Human Proteome Map
InterPro Dppa3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29057 UniProtKB/Swiss-Prot
  hsa:727866 UniProtKB/Swiss-Prot
NCBI Gene 29057 ENTREZGENE
PANTHER PROTEIN FAM156A/FAM156B UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  PTHR31577 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PGC7_Stella UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162386698 PharmGKB
UniProt A0A087WTI8_HUMAN UniProtKB/TrEMBL
  A0A087WVC3_HUMAN UniProtKB/TrEMBL
  A0A087WVC8 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WY72_HUMAN UniProtKB/TrEMBL
  A0A087WZD0_HUMAN UniProtKB/TrEMBL
  A0A087WZZ1_HUMAN UniProtKB/TrEMBL
  A0A087X275_HUMAN UniProtKB/TrEMBL
  A0A087X2G5_HUMAN UniProtKB/TrEMBL
  B3KQ92 ENTREZGENE
  FA156_HUMAN UniProtKB/Swiss-Prot
  Q5JPL2 ENTREZGENE
  Q5JPL3 ENTREZGENE
  Q5JPL4 ENTREZGENE
  Q5JPL5 ENTREZGENE
  Q5JPL6 ENTREZGENE
  Q68D17 ENTREZGENE
  Q6NVY3 ENTREZGENE
  Q8NDB6 ENTREZGENE
  Q9UI49 ENTREZGENE
UniProt Secondary B3KQ92 UniProtKB/Swiss-Prot
  Q5JPL2 UniProtKB/Swiss-Prot
  Q5JPL3 UniProtKB/Swiss-Prot
  Q5JPL4 UniProtKB/Swiss-Prot
  Q5JPL5 UniProtKB/Swiss-Prot
  Q5JPL6 UniProtKB/Swiss-Prot
  Q68D17 UniProtKB/Swiss-Prot
  Q6NVY3 UniProtKB/Swiss-Prot
  Q9UI49 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM156A  family with sequence similarity 156 member A    family with sequence similarity 156, member A  Symbol and/or name change 5135510 APPROVED