TBC1D7 (TBC1 domain family member 7) - Rat Genome Database

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Gene: TBC1D7 (TBC1 domain family member 7) Homo sapiens
Analyze
Symbol: TBC1D7
Name: TBC1 domain family member 7
RGD ID: 1316981
Description: This locus represents naturally occurring readthrough transcription between the neighboring TBC1D7 (TBC1 domain family member 7) gene and downstream uncharacterized LOC100130357 on chromosome 6. Readthrough transcripts may encode the same protein as TBC1 domain family member 7 or may be candidates for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Jan 2016]
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cell migration-inducing protein 23; dJ257A7.3; DKFZp686N2317; FLJ32666; MGCPH; PIG51; TBC1 domain family, member 7; TBC7; TS complex subunit 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
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
GRCh38613,266,536 - 13,328,537 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl613,266,542 - 13,328,583 (-)EnsemblGRCh38hg38GRCh38
GRCh37613,266,768 - 13,328,769 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36613,413,162 - 13,436,593 (-)NCBINCBI36Build 36hg18NCBI36
Build 34613,413,162 - 13,436,593NCBI
Celera614,538,134 - 14,561,738 (-)NCBICelera
Cytogenetic Map6p24.1NCBI
HuRef613,242,164 - 13,265,772 (-)NCBIHuRef
CHM1_1613,269,098 - 13,331,159 (-)NCBICHM1_1
T2T-CHM13v2.0613,139,813 - 13,201,777 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
ciliary basal body  (IDA)
cytoplasm  (IEA)
cytoplasmic vesicle  (IDA,IEA)
cytosol  (IDA,IEA,TAS)
lysosomal membrane  (IDA,IEA)
lysosome  (IEA)
membrane  (IEA)
TSC1-TSC2 complex  (IDA,IPI)
vesicle  (IEA)

Molecular Function

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

Human Phenotype
Macrocephaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Regulation of mTORC1 by PI3K signaling. Dibble CC and Cantley LC, Trends Cell Biol. 2015 Sep;25(9):545-55. doi: 10.1016/j.tcb.2015.06.002. Epub 2015 Jul 6.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. 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:11042152   PMID:14574404   PMID:14702039   PMID:15489334   PMID:17646400   PMID:17658474   PMID:19077034   PMID:21873635   PMID:22354992   PMID:22795129   PMID:23687350   PMID:24515783  
PMID:24529379   PMID:25416956   PMID:27107012   PMID:28514442   PMID:31515488   PMID:32296183   PMID:33436626  


Genomics

Comparative Map Data
TBC1D7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38613,266,536 - 13,328,537 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl613,266,542 - 13,328,583 (-)EnsemblGRCh38hg38GRCh38
GRCh37613,266,768 - 13,328,769 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36613,413,162 - 13,436,593 (-)NCBINCBI36Build 36hg18NCBI36
Build 34613,413,162 - 13,436,593NCBI
Celera614,538,134 - 14,561,738 (-)NCBICelera
Cytogenetic Map6p24.1NCBI
HuRef613,242,164 - 13,265,772 (-)NCBIHuRef
CHM1_1613,269,098 - 13,331,159 (-)NCBICHM1_1
T2T-CHM13v2.0613,139,813 - 13,201,777 (-)NCBIT2T-CHM13v2.0
Tbc1d7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391343,305,214 - 43,324,977 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1343,305,216 - 43,324,977 (-)EnsemblGRCm39 Ensembl
GRCm381343,151,740 - 43,171,501 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1343,151,740 - 43,171,501 (-)EnsemblGRCm38mm10GRCm38
MGSCv371343,247,113 - 43,266,728 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361343,162,716 - 43,182,331 (-)NCBIMGSCv36mm8
Celera1344,236,751 - 44,256,441 (-)NCBICelera
Cytogenetic Map13A4NCBI
cM Map1321.31NCBI
Tbc1d7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81721,736,898 - 21,754,499 (+)NCBIGRCr8
mRatBN7.21721,530,709 - 21,548,556 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1721,531,016 - 21,548,553 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1721,419,590 - 21,436,641 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01723,023,254 - 23,040,309 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01721,346,690 - 21,363,740 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01723,774,793 - 23,792,389 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1723,775,220 - 23,792,353 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01725,726,868 - 25,744,430 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41727,360,670 - 27,377,803 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11727,364,984 - 27,380,364 (+)NCBI
Celera1721,227,501 - 21,244,566 (+)NCBICelera
Cytogenetic Map17p14NCBI
Tbc1d7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554651,362,759 - 1,382,190 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554651,362,453 - 1,380,814 (+)NCBIChiLan1.0ChiLan1.0
TBC1D7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2527,959,687 - 27,983,685 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1623,917,815 - 23,973,698 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0613,150,677 - 13,174,661 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1613,491,734 - 13,546,859 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl613,491,734 - 13,546,853 (-)Ensemblpanpan1.1panPan2
Tbc1d7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494611,739,260 - 11,753,493 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365348,281 - 27,544 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365348,104 - 17,056 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl79,685,266 - 9,708,781 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.179,685,273 - 9,708,781 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2710,026,850 - 10,049,820 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TBC1D7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11758,822,288 - 58,844,659 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1758,822,415 - 58,846,047 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604413,347,730 - 13,370,863 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbc1d7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475612,903,359 - 12,921,805 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475612,902,917 - 12,921,805 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TBC1D7
104 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016495.6(TBC1D7):c.538del (p.Tyr180fs) deletion Macrocephaly/megalencephaly syndrome, autosomal recessive [RCV000074505] Chr6:13307727 [GRCh38]
Chr6:13307959 [GRCh37]
Chr6:6p24.1		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p24.1-22.3(chr6:13093117-22126024)x3 copy number gain See cases [RCV000051897] Chr6:13093117..22126024 [GRCh38]
Chr6:13093349..22126253 [GRCh37]
Chr6:13201335..22234232 [NCBI36]
Chr6:6p24.1-22.3		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3 copy number gain See cases [RCV000053340] Chr6:13232395..13805149 [GRCh38]
Chr6:13232627..13805381 [GRCh37]
Chr6:13340606..13913360 [NCBI36]
Chr6:6p24.1-23		 uncertain significance
NM_016495.6(TBC1D7):c.18_21del (p.Arg7fs) deletion Macrocephaly/megalencephaly syndrome, autosomal recessive [RCV000133541] Chr6:13326878..13326881 [GRCh38]
Chr6:13327110..13327113 [GRCh37]
Chr6:6p24.1		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1		 pathogenic
GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3 copy number gain See cases [RCV000136133] Chr6:13311519..16295560 [GRCh38]
Chr6:13311751..16295791 [GRCh37]
Chr6:13419730..16403770 [NCBI36]
Chr6:6p24.1-22.3		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3		 likely benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1 copy number loss See cases [RCV000142410] Chr6:10601499..13987316 [GRCh38]
Chr6:10601732..13987547 [GRCh37]
Chr6:10709718..14095526 [NCBI36]
Chr6:6p24.2-23		 pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
NM_016495.6(TBC1D7):c.413C>A (p.Ala138Asp) single nucleotide variant not provided [RCV000963616]|not specified [RCV000239022] Chr6:13316677 [GRCh38]
Chr6:13316909 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.519+9dup duplication not provided [RCV001567295] Chr6:13316548..13316549 [GRCh38]
Chr6:13316780..13316781 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.799C>T (p.Pro267Ser) single nucleotide variant not provided [RCV000594426] Chr6:13305184 [GRCh38]
Chr6:13305416 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.528G>A (p.Ala176=) single nucleotide variant not provided [RCV001545527] Chr6:13307737 [GRCh38]
Chr6:13307969 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.406G>A (p.Ala136Thr) single nucleotide variant TBC1D7-related condition [RCV003925492]|not provided [RCV000890099]|not specified [RCV000502101] Chr6:13316684 [GRCh38]
Chr6:13316916 [GRCh37]
Chr6:6p24.1		 benign|likely benign
NM_016495.6(TBC1D7):c.747dup (p.Val250fs) duplication Macrocephaly [RCV000578342] Chr6:13306445..13306446 [GRCh38]
Chr6:13306677..13306678 [GRCh37]
Chr6:6p24.1		 pathogenic
NM_016495.6(TBC1D7):c.328C>T (p.Arg110Cys) single nucleotide variant Inborn genetic diseases [RCV003302614] Chr6:13320961 [GRCh38]
Chr6:13321193 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.795+102T>A single nucleotide variant not provided [RCV001680175] Chr6:13306296 [GRCh38]
Chr6:13306528 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.382-156C>G single nucleotide variant not provided [RCV001583343] Chr6:13316864 [GRCh38]
Chr6:13317096 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.795+299C>T single nucleotide variant not provided [RCV001691827] Chr6:13306099 [GRCh38]
Chr6:13306331 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.200T>G (p.Leu67Trp) single nucleotide variant not provided [RCV000961688]|not specified [RCV001726394] Chr6:13321089 [GRCh38]
Chr6:13321321 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.517T>C (p.Leu173=) single nucleotide variant not provided [RCV001573336]|not specified [RCV001727884] Chr6:13316573 [GRCh38]
Chr6:13316805 [GRCh37]
Chr6:6p24.1		 benign|likely benign
NM_016495.6(TBC1D7):c.112+310dup duplication not provided [RCV001724473] Chr6:13326462..13326463 [GRCh38]
Chr6:13326694..13326695 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.588C>T (p.Ser196=) single nucleotide variant not provided [RCV000901531] Chr6:13307677 [GRCh38]
Chr6:13307909 [GRCh37]
Chr6:6p24.1		 benign|likely benign
NM_016495.6(TBC1D7):c.593C>T (p.Ala198Val) single nucleotide variant not provided [RCV000899776] Chr6:13307672 [GRCh38]
Chr6:13307904 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.342G>A (p.Leu114=) single nucleotide variant TBC1D7-related condition [RCV003916225]|not provided [RCV000966985] Chr6:13320947 [GRCh38]
Chr6:13321179 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.213C>T (p.His71=) single nucleotide variant not provided [RCV000929139] Chr6:13321076 [GRCh38]
Chr6:13321308 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.613C>G (p.Leu205Val) single nucleotide variant Inborn genetic diseases [RCV003289857] Chr6:13307652 [GRCh38]
Chr6:13307884 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.242G>T (p.Arg81Leu) single nucleotide variant not provided [RCV000998537] Chr6:13321047 [GRCh38]
Chr6:13321279 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.788del (p.Leu263fs) deletion not provided [RCV000998536] Chr6:13306405 [GRCh38]
Chr6:13306637 [GRCh37]
Chr6:6p24.1		 likely pathogenic
NM_030948.6(PHACTR1):c.1436A>T (p.Asn479Ile) single nucleotide variant Developmental and epileptic encephalopathy, 70 [RCV000754624] Chr6:13272904 [GRCh38]
Chr6:13273136 [GRCh37]
Chr6:6p24.1		 pathogenic
NM_030948.6(PHACTR1):c.1561C>T (p.Arg521Cys) single nucleotide variant Developmental and epileptic encephalopathy, 70 [RCV000754622]|not specified [RCV002249452] Chr6:13283473 [GRCh38]
Chr6:13283705 [GRCh37]
Chr6:6p24.1		 pathogenic|uncertain significance
NM_016495.6(TBC1D7):c.665+144G>A single nucleotide variant not provided [RCV001551917] Chr6:13307456 [GRCh38]
Chr6:13307688 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.193+47G>A single nucleotide variant Macrocephaly/megalencephaly syndrome, autosomal recessive [RCV001816016]|not provided [RCV001610071] Chr6:13325047 [GRCh38]
Chr6:13325279 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.795+276G>A single nucleotide variant not provided [RCV001636511] Chr6:13306122 [GRCh38]
Chr6:13306354 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.519+22del deletion not provided [RCV001725489] Chr6:13316549 [GRCh38]
Chr6:13316781 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.382-272T>C single nucleotide variant not provided [RCV001550945] Chr6:13316980 [GRCh38]
Chr6:13317212 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.446T>C (p.Val149Ala) single nucleotide variant not provided [RCV001577086] Chr6:13316644 [GRCh38]
Chr6:13316876 [GRCh37]
Chr6:6p24.1		 likely benign|conflicting interpretations of pathogenicity
NM_016495.6(TBC1D7):c.382-244G>A single nucleotide variant not provided [RCV001564290] Chr6:13316952 [GRCh38]
Chr6:13317184 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.520-205A>G single nucleotide variant not provided [RCV001620454] Chr6:13307950 [GRCh38]
Chr6:13308182 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.113-52A>T single nucleotide variant not provided [RCV001558591] Chr6:13325226 [GRCh38]
Chr6:13325458 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.795+195_795+199del microsatellite not provided [RCV001558698] Chr6:13306199..13306203 [GRCh38]
Chr6:13306431..13306435 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.519+145A>G single nucleotide variant not provided [RCV001673538] Chr6:13316426 [GRCh38]
Chr6:13316658 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.519+166C>G single nucleotide variant not provided [RCV001644396] Chr6:13316405 [GRCh38]
Chr6:13316637 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.520-225A>G single nucleotide variant not provided [RCV001585255] Chr6:13307970 [GRCh38]
Chr6:13308202 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.665+312G>A single nucleotide variant not provided [RCV001650804] Chr6:13307288 [GRCh38]
Chr6:13307520 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.678A>G (p.Lys226=) single nucleotide variant not provided [RCV000949712]|not specified [RCV001818954] Chr6:13306515 [GRCh38]
Chr6:13306747 [GRCh37]
Chr6:6p24.1		 benign|likely benign
NM_016495.6(TBC1D7):c.870C>G (p.Val290=) single nucleotide variant not provided [RCV000958834] Chr6:13305113 [GRCh38]
Chr6:13305345 [GRCh37]
Chr6:6p24.1		 benign
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1		 pathogenic
NM_016495.6(TBC1D7):c.594G>A (p.Ala198=) single nucleotide variant not provided [RCV000956363] Chr6:13307671 [GRCh38]
Chr6:13307903 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.665+296C>T single nucleotide variant not provided [RCV001677311] Chr6:13307304 [GRCh38]
Chr6:13307536 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.382-308G>A single nucleotide variant not provided [RCV001578161] Chr6:13317016 [GRCh38]
Chr6:13317248 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.382-325G>A single nucleotide variant not provided [RCV001560360] Chr6:13317033 [GRCh38]
Chr6:13317265 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.267T>C (p.Leu89=) single nucleotide variant TBC1D7-related condition [RCV003921313]|not provided [RCV001659074] Chr6:13321022 [GRCh38]
Chr6:13321254 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.520-312T>C single nucleotide variant not provided [RCV001654395] Chr6:13308057 [GRCh38]
Chr6:13308289 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.666-198A>G single nucleotide variant not provided [RCV001527737] Chr6:13306725 [GRCh38]
Chr6:13306957 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.382-144G>T single nucleotide variant not provided [RCV001616281] Chr6:13316852 [GRCh38]
Chr6:13317084 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.519+21_519+22del deletion not provided [RCV001688969] Chr6:13316549..13316550 [GRCh38]
Chr6:13316781..13316782 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.666-318C>T single nucleotide variant not provided [RCV001637537] Chr6:13306845 [GRCh38]
Chr6:13307077 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.381+43C>T single nucleotide variant not provided [RCV001594666] Chr6:13320865 [GRCh38]
Chr6:13321097 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.796-242A>G single nucleotide variant not provided [RCV001724551] Chr6:13305429 [GRCh38]
Chr6:13305661 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.112+310_112+311dup duplication not provided [RCV001534202] Chr6:13326462..13326463 [GRCh38]
Chr6:13326694..13326695 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.519+184C>T single nucleotide variant not provided [RCV001693736] Chr6:13316387 [GRCh38]
Chr6:13316619 [GRCh37]
Chr6:6p24.1		 benign
NM_030948.6(PHACTR1):c.1499T>C (p.Leu500Pro) single nucleotide variant Developmental and epileptic encephalopathy, 70 [RCV000754623] Chr6:13278319 [GRCh38]
Chr6:13278551 [GRCh37]
Chr6:6p24.1		 pathogenic
NM_016495.6(TBC1D7):c.381+143C>T single nucleotide variant Macrocephaly/megalencephaly syndrome, autosomal recessive [RCV001335711] Chr6:13320765 [GRCh38]
Chr6:13320997 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_030948.6(PHACTR1):c.1393_1447+1del deletion Developmental and epileptic encephalopathy, 70 [RCV001291671] Chr6:13272860..13272915 [GRCh38]
Chr6:13273092..13273147 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.520-106A>G single nucleotide variant not provided [RCV001541026] Chr6:13307851 [GRCh38]
Chr6:13308083 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.-8-62T>A single nucleotide variant not provided [RCV001535064] Chr6:13326968 [GRCh38]
Chr6:13327200 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.-8-328C>T single nucleotide variant not provided [RCV001671059] Chr6:13327234 [GRCh38]
Chr6:13327466 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.666-287G>A single nucleotide variant not provided [RCV001715224] Chr6:13306814 [GRCh38]
Chr6:13307046 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.665+8G>A single nucleotide variant Macrocephaly/megalencephaly syndrome, autosomal recessive [RCV001815618]|not provided [RCV001714862] Chr6:13307592 [GRCh38]
Chr6:13307824 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.466C>T (p.Arg156Ter) single nucleotide variant not provided [RCV001756239] Chr6:13316624 [GRCh38]
Chr6:13316856 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.721G>A (p.Glu241Lys) single nucleotide variant not provided [RCV001770610] Chr6:13306472 [GRCh38]
Chr6:13306704 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.469C>T (p.Arg157Cys) single nucleotide variant not provided [RCV001733021] Chr6:13316621 [GRCh38]
Chr6:13316853 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.752T>C (p.Met251Thr) single nucleotide variant not specified [RCV001817101] Chr6:13306441 [GRCh38]
Chr6:13306673 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.196A>G (p.Ile66Val) single nucleotide variant not provided [RCV002044717] Chr6:13321093 [GRCh38]
Chr6:13321325 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.728T>C (p.Leu243Ser) single nucleotide variant not provided [RCV001982845] Chr6:13306465 [GRCh38]
Chr6:13306697 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.295A>G (p.Ser99Gly) single nucleotide variant not provided [RCV001985947] Chr6:13320994 [GRCh38]
Chr6:13321226 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.591G>A (p.Ala197=) single nucleotide variant not provided [RCV001893767] Chr6:13307674 [GRCh38]
Chr6:13307906 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.803A>G (p.Gln268Arg) single nucleotide variant not provided [RCV001994016] Chr6:13305180 [GRCh38]
Chr6:13305412 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.500G>A (p.Arg167Gln) single nucleotide variant not provided [RCV001990070] Chr6:13316590 [GRCh38]
Chr6:13316822 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.9G>A (p.Glu3=) single nucleotide variant not provided [RCV002071845] Chr6:13326890 [GRCh38]
Chr6:13327122 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.636G>A (p.Ala212=) single nucleotide variant not provided [RCV002115068] Chr6:13307629 [GRCh38]
Chr6:13307861 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.867G>A (p.Pro289=) single nucleotide variant not provided [RCV002153905] Chr6:13305116 [GRCh38]
Chr6:13305348 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.801C>T (p.Pro267=) single nucleotide variant not provided [RCV002184496] Chr6:13305182 [GRCh38]
Chr6:13305414 [GRCh37]
Chr6:6p24.1		 likely benign
NM_030948.6(PHACTR1):c.1454A>G (p.Asn485Ser) single nucleotide variant Developmental and epileptic encephalopathy, 70 [RCV002273113] Chr6:13278274 [GRCh38]
Chr6:13278506 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_030948.6(PHACTR1):c.1396C>A (p.Leu466Met) single nucleotide variant Developmental and epileptic encephalopathy, 70 [RCV002227612] Chr6:13272864 [GRCh38]
Chr6:13273096 [GRCh37]
Chr6:6p24.1		 pathogenic
NM_016495.6(TBC1D7):c.467G>A (p.Arg156Gln) single nucleotide variant not provided [RCV002288178] Chr6:13316623 [GRCh38]
Chr6:13316855 [GRCh37]
Chr6:6p24.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_030948.6(PHACTR1):c.1510-2265_1510-2264del microsatellite not provided [RCV002263399] Chr6:13281155..13281156 [GRCh38]
Chr6:13281387..13281388 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.817G>A (p.Ala273Thr) single nucleotide variant Inborn genetic diseases [RCV003269149]|not provided [RCV002265382] Chr6:13305166 [GRCh38]
Chr6:13305398 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.449A>G (p.Asp150Gly) single nucleotide variant not provided [RCV002306013] Chr6:13316641 [GRCh38]
Chr6:13316873 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.715G>A (p.Ala239Thr) single nucleotide variant Inborn genetic diseases [RCV002992423] Chr6:13306478 [GRCh38]
Chr6:13306710 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.222T>A (p.His74Gln) single nucleotide variant Inborn genetic diseases [RCV002864773] Chr6:13321067 [GRCh38]
Chr6:13321299 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.608A>G (p.Tyr203Cys) single nucleotide variant Inborn genetic diseases [RCV002772526] Chr6:13307657 [GRCh38]
Chr6:13307889 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.227A>G (p.Lys76Arg) single nucleotide variant Inborn genetic diseases [RCV002981041] Chr6:13321062 [GRCh38]
Chr6:13321294 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.435G>A (p.Val145=) single nucleotide variant not provided [RCV002923902] Chr6:13316655 [GRCh38]
Chr6:13316887 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.166C>T (p.Arg56Cys) single nucleotide variant Inborn genetic diseases [RCV002950388] Chr6:13325121 [GRCh38]
Chr6:13325353 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.381+4A>G single nucleotide variant not provided [RCV002926976] Chr6:13320904 [GRCh38]
Chr6:13321136 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.322dup (p.Tyr108fs) duplication not provided [RCV002958097] Chr6:13320966..13320967 [GRCh38]
Chr6:13321198..13321199 [GRCh37]
Chr6:6p24.1		 pathogenic
NM_016495.6(TBC1D7):c.171A>G (p.Ala57=) single nucleotide variant TBC1D7-related condition [RCV003963454]|not provided [RCV002933615] Chr6:13325116 [GRCh38]
Chr6:13325348 [GRCh37]
Chr6:6p24.1		 benign|likely benign
NM_030948.6(PHACTR1):c.1626G>T (p.Trp542Cys) single nucleotide variant Inborn genetic diseases [RCV002747290] Chr6:13283538 [GRCh38]
Chr6:13283770 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.878G>T (p.Ser293Ile) single nucleotide variant Inborn genetic diseases [RCV003277835] Chr6:13305105 [GRCh38]
Chr6:13305337 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.6dup (p.Glu3Ter) duplication TBC1D7-related condition [RCV003393207] Chr6:13326892..13326893 [GRCh38]
Chr6:13327124..13327125 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.874T>G (p.Ser292Ala) single nucleotide variant Inborn genetic diseases [RCV003178143] Chr6:13305109 [GRCh38]
Chr6:13305341 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.211C>T (p.His71Tyr) single nucleotide variant Inborn genetic diseases [RCV003343595] Chr6:13321078 [GRCh38]
Chr6:13321310 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.284T>A (p.Val95Asp) single nucleotide variant Inborn genetic diseases [RCV003361725] Chr6:13321005 [GRCh38]
Chr6:13321237 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_030948.6(PHACTR1):c.1688C>G (p.Thr563Ser) single nucleotide variant Inborn genetic diseases [RCV003349703] Chr6:13286183 [GRCh38]
Chr6:13286415 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.194-64_233delinsC indel not provided [RCV003569623] Chr6:13321056..13321159 [GRCh38]
Chr6:13321288..13321391 [GRCh37]
Chr6:6p24.1		 likely pathogenic
NM_030948.6(PHACTR1):c.1636A>T (p.Thr546Ser) single nucleotide variant not provided [RCV003436510] Chr6:13283548 [GRCh38]
Chr6:13283780 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_030948.6(PHACTR1):c.1643C>G (p.Ala548Gly) single nucleotide variant Developmental and epileptic encephalopathy, 70 [RCV003389124] Chr6:13283555 [GRCh38]
Chr6:13283787 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_030948.6(PHACTR1):c.1392-4G>A single nucleotide variant not provided [RCV003436509] Chr6:13272856 [GRCh38]
Chr6:13273088 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.155C>T (p.Pro52Leu) single nucleotide variant TBC1D7-related condition [RCV003397800] Chr6:13325132 [GRCh38]
Chr6:13325364 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.499C>T (p.Arg167Trp) single nucleotide variant TBC1D7-related condition [RCV003410708] Chr6:13316591 [GRCh38]
Chr6:13316823 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.447C>T (p.Val149=) single nucleotide variant not provided [RCV003436511] Chr6:13316643 [GRCh38]
Chr6:13316875 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.672G>A (p.Trp224Ter) single nucleotide variant not provided [RCV003575495] Chr6:13306521 [GRCh38]
Chr6:13306753 [GRCh37]
Chr6:6p24.1		 pathogenic
NM_016495.6(TBC1D7):c.161T>C (p.Met54Thr) single nucleotide variant not provided [RCV003662824] Chr6:13325126 [GRCh38]
Chr6:13325358 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.434T>G (p.Val145Gly) single nucleotide variant not provided [RCV003576259] Chr6:13316656 [GRCh38]
Chr6:13316888 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.340C>T (p.Leu114=) single nucleotide variant not provided [RCV003832451] Chr6:13320949 [GRCh38]
Chr6:13321181 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.359C>T (p.Pro120Leu) single nucleotide variant not provided [RCV003855507] Chr6:13320930 [GRCh38]
Chr6:13321162 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.795+6T>C single nucleotide variant not provided [RCV003580115] Chr6:13306392 [GRCh38]
Chr6:13306624 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.833C>G (p.Ala278Gly) single nucleotide variant not provided [RCV003554218] Chr6:13305150 [GRCh38]
Chr6:13305382 [GRCh37]
Chr6:6p24.1		 benign
NM_016495.6(TBC1D7):c.241C>T (p.Arg81Cys) single nucleotide variant not provided [RCV003556753] Chr6:13321048 [GRCh38]
Chr6:13321280 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.780A>G (p.Thr260=) single nucleotide variant not provided [RCV003554801] Chr6:13306413 [GRCh38]
Chr6:13306645 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.112+11T>C single nucleotide variant not provided [RCV003840794] Chr6:13326776 [GRCh38]
Chr6:13327008 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.665+19G>C single nucleotide variant not provided [RCV003707079] Chr6:13307581 [GRCh38]
Chr6:13307813 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.378A>T (p.Pro126=) single nucleotide variant TBC1D7-related condition [RCV003894572] Chr6:13320911 [GRCh38]
Chr6:13321143 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.381+56C>T single nucleotide variant TBC1D7-related condition [RCV003944055] Chr6:13320852 [GRCh38]
Chr6:13321084 [GRCh37]
Chr6:6p24.1		 likely benign
NM_030948.6(PHACTR1):c.1451G>A (p.Arg484Gln) single nucleotide variant PHACTR1-related condition [RCV003921647] Chr6:13278271 [GRCh38]
Chr6:13278503 [GRCh37]
Chr6:6p24.1		 uncertain significance
NM_016495.6(TBC1D7):c.381+12C>G single nucleotide variant TBC1D7-related condition [RCV003964723] Chr6:13320896 [GRCh38]
Chr6:13321128 [GRCh37]
Chr6:6p24.1		 likely benign
NM_016495.6(TBC1D7):c.867G>T (p.Pro289=) single nucleotide variant TBC1D7-related condition [RCV003926768] Chr6:13305116 [GRCh38]
Chr6:13305348 [GRCh37]
Chr6:6p24.1		 likely benign
NM_030948.6(PHACTR1):c.1623G>A (p.Pro541=) single nucleotide variant PHACTR1-related condition [RCV003909720] Chr6:13283535 [GRCh38]
Chr6:13283767 [GRCh37]
Chr6:6p24.1		 likely benign
NM_030948.6(PHACTR1):c.1392-5C>T single nucleotide variant PHACTR1-related condition [RCV003964379] Chr6:13272855 [GRCh38]
Chr6:13273087 [GRCh37]
Chr6:6p24.1		 likely benign
NM_030948.6(PHACTR1):c.1448-3del deletion PHACTR1-related condition [RCV003934190] Chr6:13278258 [GRCh38]
Chr6:13278490 [GRCh37]
Chr6:6p24.1		 likely benign
NM_030948.6(PHACTR1):c.*5C>T single nucleotide variant PHACTR1-related condition [RCV003922187] Chr6:13287083 [GRCh38]
Chr6:13287315 [GRCh37]
Chr6:6p24.1		 benign
NM_030948.6(PHACTR1):c.1727+24dup duplication not provided [RCV003885585] Chr6:13286236..13286237 [GRCh38]
Chr6:13286468..13286469 [GRCh37]
Chr6:6p24.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3519
Count of miRNA genes:1211
Interacting mature miRNAs:1521
Transcripts:ENST00000343141, ENST00000356436, ENST00000379291, ENST00000379300, ENST00000379307, ENST00000416436, ENST00000420456, ENST00000421203, ENST00000422136, ENST00000428109, ENST00000446018, ENST00000450347, ENST00000452989, ENST00000606214, ENST00000606370, ENST00000606530, ENST00000606541, ENST00000607208, ENST00000607230, ENST00000607532, ENST00000607658
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D6S2113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37613,305,277 - 13,305,415UniSTSGRCh37
Build 36613,413,256 - 13,413,394RGDNCBI36
Celera614,538,228 - 14,538,366RGD
Cytogenetic Map6p24.1UniSTS
HuRef613,242,258 - 13,242,396UniSTS
GeneMap99-G3 RH Map6959.0UniSTS
RH92774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37613,328,969 - 13,329,108UniSTSGRCh37
Build 36613,436,948 - 13,437,087RGDNCBI36
Celera614,561,920 - 14,562,059RGD
Cytogenetic Map6p24.1UniSTS
HuRef613,265,954 - 13,266,093UniSTS
GeneMap99-GB4 RH Map647.73UniSTS
RH46703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37613,305,208 - 13,305,368UniSTSGRCh37
Build 36613,413,187 - 13,413,347RGDNCBI36
Celera614,538,159 - 14,538,319RGD
Cytogenetic Map6p24.1UniSTS
HuRef613,242,189 - 13,242,349UniSTS
GeneMap99-GB4 RH Map647.73UniSTS
NCBI RH Map6114.4UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 20 37 15 12 207 13 252 14 62 30 139 91 3
Low 2419 2916 1709 611 1737 451 4104 2152 3617 388 1321 1521 171 1 1204 2788 6 2
Below cutoff 38 2 1 7 1 31 55 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000343141   ⟹   ENSP00000343100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,304,954 - 13,328,583 (-)Ensembl
RefSeq Acc Id: ENST00000356436   ⟹   ENSP00000348813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,304,951 - 13,328,531 (-)Ensembl
RefSeq Acc Id: ENST00000379291   ⟹   ENSP00000368593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,316,698 - 13,328,531 (-)Ensembl
RefSeq Acc Id: ENST00000379300   ⟹   ENSP00000368602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,304,951 - 13,328,537 (-)Ensembl
RefSeq Acc Id: ENST00000379307   ⟹   ENSP00000368609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,304,954 - 13,328,583 (-)Ensembl
RefSeq Acc Id: ENST00000416436   ⟹   ENSP00000401339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,316,682 - 13,328,130 (-)Ensembl
RefSeq Acc Id: ENST00000420456   ⟹   ENSP00000412102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,307,600 - 13,327,818 (-)Ensembl
RefSeq Acc Id: ENST00000421203   ⟹   ENSP00000401438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,274,849 - 13,328,544 (-)Ensembl
RefSeq Acc Id: ENST00000422136   ⟹   ENSP00000394425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,306,445 - 13,328,531 (-)Ensembl
RefSeq Acc Id: ENST00000428109   ⟹   ENSP00000414101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,316,621 - 13,328,130 (-)Ensembl
RefSeq Acc Id: ENST00000446018   ⟹   ENSP00000417005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,306,491 - 13,328,531 (-)Ensembl
RefSeq Acc Id: ENST00000450347   ⟹   ENSP00000404680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,306,398 - 13,328,531 (-)Ensembl
RefSeq Acc Id: ENST00000452989   ⟹   ENSP00000414292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,306,398 - 13,328,531 (-)Ensembl
RefSeq Acc Id: ENST00000606214   ⟹   ENSP00000475727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,266,542 - 13,326,912 (-)Ensembl
RefSeq Acc Id: ENST00000606370   ⟹   ENSP00000475355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,318,718 - 13,328,555 (-)Ensembl
RefSeq Acc Id: ENST00000606530   ⟹   ENSP00000475469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,326,838 - 13,328,332 (-)Ensembl
RefSeq Acc Id: ENST00000606541   ⟹   ENSP00000475795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,320,832 - 13,326,912 (-)Ensembl
RefSeq Acc Id: ENST00000607208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,307,714 - 13,320,981 (-)Ensembl
RefSeq Acc Id: ENST00000607230   ⟹   ENSP00000476109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,323,711 - 13,328,583 (-)Ensembl
RefSeq Acc Id: ENST00000607532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,306,645 - 13,328,544 (-)Ensembl
RefSeq Acc Id: ENST00000607658   ⟹   ENSP00000475191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,305,618 - 13,328,458 (-)Ensembl
RefSeq Acc Id: NM_001318809   ⟹   NP_001305738
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38613,266,536 - 13,328,537 (-)NCBI
T2T-CHM13v2.0613,139,813 - 13,201,777 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134872
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38613,274,849 - 13,328,537 (-)NCBI
T2T-CHM13v2.0613,148,111 - 13,201,777 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001305738 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAB71389 (Get FASTA)   NCBI Sequence Viewer  
  BAG59059 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000343100.4
  ENSP00000348813.4
  ENSP00000368602.3
  ENSP00000368609.2
  ENSP00000475727
  ENSP00000475727.1
GenBank Protein Q9P0N9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001305738   ⟸   NM_001318809
- UniProtKB: Q86VM8 (UniProtKB/Swiss-Prot),   Q5SZL7 (UniProtKB/Swiss-Prot),   Q53F44 (UniProtKB/Swiss-Prot),   Q2TU37 (UniProtKB/Swiss-Prot),   E7EV96 (UniProtKB/Swiss-Prot),   Q96MB8 (UniProtKB/Swiss-Prot),   Q9P0N9 (UniProtKB/Swiss-Prot),   Q5SZL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000404680   ⟸   ENST00000450347
RefSeq Acc Id: ENSP00000414292   ⟸   ENST00000452989
RefSeq Acc Id: ENSP00000414101   ⟸   ENST00000428109
RefSeq Acc Id: ENSP00000401339   ⟸   ENST00000416436
RefSeq Acc Id: ENSP00000368593   ⟸   ENST00000379291
RefSeq Acc Id: ENSP00000368602   ⟸   ENST00000379300
RefSeq Acc Id: ENSP00000368609   ⟸   ENST00000379307
RefSeq Acc Id: ENSP00000417005   ⟸   ENST00000446018
RefSeq Acc Id: ENSP00000412102   ⟸   ENST00000420456
RefSeq Acc Id: ENSP00000475355   ⟸   ENST00000606370
RefSeq Acc Id: ENSP00000475727   ⟸   ENST00000606214
RefSeq Acc Id: ENSP00000475469   ⟸   ENST00000606530
RefSeq Acc Id: ENSP00000475795   ⟸   ENST00000606541
RefSeq Acc Id: ENSP00000348813   ⟸   ENST00000356436
RefSeq Acc Id: ENSP00000401438   ⟸   ENST00000421203
RefSeq Acc Id: ENSP00000475191   ⟸   ENST00000607658
RefSeq Acc Id: ENSP00000476109   ⟸   ENST00000607230
RefSeq Acc Id: ENSP00000343100   ⟸   ENST00000343141
RefSeq Acc Id: ENSP00000394425   ⟸   ENST00000422136
Protein Domains
Rab-GAP TBC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P0N9-F1-model_v2 AlphaFold Q9P0N9 1-293 view protein structure

Promoters
RGD ID:6804873
Promoter ID:HG_KWN:52364
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000343141,   ENST00000379291,   OTTHUMT00000039888,   OTTHUMT00000039889,   OTTHUMT00000039890,   OTTHUMT00000039891,   OTTHUMT00000039892,   OTTHUMT00000039893,   OTTHUMT00000039895,   OTTHUMT00000039896,   OTTHUMT00000039897,   UC003NAJ.1,   UC003NAM.1,   UC003NAO.1,   UC003NAP.1,   UC003NAQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36613,436,499 - 13,436,999 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21066 AgrOrtholog
COSMIC TBC1D7 COSMIC
Ensembl Genes ENSG00000145979 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000343141.8 UniProtKB/Swiss-Prot
  ENST00000356436.8 UniProtKB/Swiss-Prot
  ENST00000379300.8 UniProtKB/Swiss-Prot
  ENST00000379307.6 UniProtKB/Swiss-Prot
  ENST00000421203 ENTREZGENE
  ENST00000606214 ENTREZGENE
  ENST00000606214.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.8.680 UniProtKB/Swiss-Prot
  Ypt/Rab-GAP domain of gyp1p, domain 1 UniProtKB/Swiss-Prot
  Ypt/Rab-GAP domain of gyp1p, domain 3 UniProtKB/Swiss-Prot
GTEx ENSG00000145979 GTEx
Human Proteome Map TBC1D7 Human Proteome Map
InterPro Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot
  TBC1D7 UniProtKB/Swiss-Prot
  TBC1D7_dom2 UniProtKB/Swiss-Prot
KEGG Report hsa:107080638 UniProtKB/Swiss-Prot
  hsa:51256 UniProtKB/Swiss-Prot
NCBI Gene TBC1D7-LOC100130357 ENTREZGENE
PANTHER PTHR13530 UniProtKB/Swiss-Prot
  TBC1 DOMAIN FAMILY MEMBER 7 UniProtKB/Swiss-Prot
Pfam RabGAP-TBC UniProtKB/Swiss-Prot
PROSITE TBC_RABGAP UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47923 UniProtKB/Swiss-Prot
UniProt E7EV96 ENTREZGENE
  Q2TU37 ENTREZGENE
  Q53F44 ENTREZGENE
  Q5SZL4 ENTREZGENE
  Q5SZL7 ENTREZGENE
  Q86VM8 ENTREZGENE
  Q96MB8 ENTREZGENE
  Q9P0N9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary E7EV96 UniProtKB/Swiss-Prot
  Q2TU37 UniProtKB/Swiss-Prot
  Q53F44 UniProtKB/Swiss-Prot
  Q5SZL7 UniProtKB/Swiss-Prot
  Q86VM8 UniProtKB/Swiss-Prot
  Q96MB8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TBC1D7  TBC1 domain family member 7    TBC1 domain family, member 7  Symbol and/or name change 5135510 APPROVED