TACC3 (transforming acidic coiled-coil containing protein 3) - Rat Genome Database

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Gene: TACC3 (transforming acidic coiled-coil containing protein 3) Homo sapiens
Analyze
Symbol: TACC3
Name: transforming acidic coiled-coil containing protein 3
RGD ID: 1353438
HGNC Page HGNC:11524
Description: Predicted to enable protein domain specific binding activity. Involved in metaphase/anaphase transition of mitotic cell cycle; microtubule cytoskeleton organization involved in mitosis; and regulation of mitotic spindle organization. Located in cytosol; intracellular membrane-bounded organelle; and microtubule cytoskeleton.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ERIC-1; ERIC1; maskin; MGC117382; MGC133242; Tacc4; transforming acidic coiled-coil-containing protein 3; transforming, acidic coiled-coil containing protein 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AP001496.3   LOC100422241  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3841,721,521 - 1,745,171 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl41,712,858 - 1,745,171 (+)EnsemblGRCh38hg38GRCh38
GRCh3741,723,248 - 1,746,898 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3641,693,062 - 1,716,696 (+)NCBINCBI36Build 36hg18NCBI36
Build 3441,690,496 - 1,714,126NCBI
Celera41,634,312 - 1,657,939 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef41,666,111 - 1,689,797 (+)NCBIHuRef
CHM1_141,721,189 - 1,744,883 (+)NCBICHM1_1
T2T-CHM13v2.041,719,323 - 1,742,998 (+)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
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
alpha-pinene  (EXP)
AM-251  (EXP)
antimycin A  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-D-glucosamine  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
caffeine  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
diallyl trisulfide  (EXP)
diazinon  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
fenpyroximate  (EXP)
folic acid  (EXP,ISO)
FR900359  (EXP)
gallic acid  (EXP)
genistein  (EXP)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
lidocaine  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
N-Nitrosopyrrolidine  (EXP)
niclosamide  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paclitaxel  (EXP)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
pyrimidifen  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8570611   PMID:10366448   PMID:11121038   PMID:11298601   PMID:11847113   PMID:12015314   PMID:12389629   PMID:12477932   PMID:12711550   PMID:12927788   PMID:14602875  
PMID:14767476   PMID:15302935   PMID:15489334   PMID:15851029   PMID:16344560   PMID:16410616   PMID:16964243   PMID:17060449   PMID:17675670   PMID:17914111   PMID:18029348   PMID:19148534  
PMID:19823035   PMID:20056645   PMID:20237422   PMID:20348956   PMID:20360068   PMID:20508983   PMID:20566684   PMID:20729911   PMID:20838383   PMID:20923838   PMID:20972438   PMID:21113414  
PMID:21297582   PMID:21512126   PMID:21653829   PMID:21815251   PMID:21873635   PMID:22837387   PMID:22939629   PMID:23175443   PMID:23298836   PMID:23348690   PMID:23532825   PMID:23787465  
PMID:23887685   PMID:23936413   PMID:24003142   PMID:24077290   PMID:24163127   PMID:24273164   PMID:24722188   PMID:24769898   PMID:25246530   PMID:25294908   PMID:25375378   PMID:25416956  
PMID:25535896   PMID:25613365   PMID:25627682   PMID:25760075   PMID:25921289   PMID:26133271   PMID:26134678   PMID:26186194   PMID:26219398   PMID:26219896   PMID:26344197   PMID:26496610  
PMID:26531241   PMID:26869289   PMID:27248823   PMID:27258563   PMID:27572091   PMID:27705912   PMID:27812135   PMID:27956147   PMID:28109075   PMID:28192613   PMID:28273854   PMID:28336437  
PMID:28514442   PMID:28581483   PMID:28655970   PMID:28838400   PMID:28855393   PMID:29135996   PMID:29355525   PMID:29358577   PMID:29507755   PMID:29510984   PMID:29892012   PMID:29991799  
PMID:30024460   PMID:30054275   PMID:30217970   PMID:31300519   PMID:31452512   PMID:31823729   PMID:31914393   PMID:32156598   PMID:32199932   PMID:32296183   PMID:32384449   PMID:32413119  
PMID:32543081   PMID:32687490   PMID:32744749   PMID:32850835   PMID:32989298   PMID:33417871   PMID:33714201   PMID:33961781   PMID:34079125   PMID:34134633   PMID:34230131   PMID:34373451  
PMID:34709266   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35563538   PMID:35844135   PMID:35855850   PMID:35944360   PMID:35959857   PMID:35987950   PMID:36114006   PMID:36215168  
PMID:36780330   PMID:36790370   PMID:36864125   PMID:37341435   PMID:37499664   PMID:38084010   PMID:38113892   PMID:38280479   PMID:38480537  


Genomics

Comparative Map Data
TACC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3841,721,521 - 1,745,171 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl41,712,858 - 1,745,171 (+)EnsemblGRCh38hg38GRCh38
GRCh3741,723,248 - 1,746,898 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3641,693,062 - 1,716,696 (+)NCBINCBI36Build 36hg18NCBI36
Build 3441,690,496 - 1,714,126NCBI
Celera41,634,312 - 1,657,939 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef41,666,111 - 1,689,797 (+)NCBIHuRef
CHM1_141,721,189 - 1,744,883 (+)NCBICHM1_1
T2T-CHM13v2.041,719,323 - 1,742,998 (+)NCBIT2T-CHM13v2.0
Tacc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39533,814,808 - 33,836,331 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl533,815,472 - 33,836,339 (+)EnsemblGRCm39 Ensembl
GRCm38533,658,128 - 33,672,203 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl533,658,128 - 33,678,995 (+)EnsemblGRCm38mm10GRCm38
MGSCv37534,000,796 - 34,014,847 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36533,975,519 - 33,989,055 (+)NCBIMGSCv36mm8
Celera531,134,263 - 31,148,314 (+)NCBICelera
Cytogenetic Map5B2NCBI
cM Map517.83NCBI
Tacc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81481,275,755 - 81,289,894 (-)NCBIGRCr8
mRatBN7.21477,051,209 - 77,065,343 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1477,051,215 - 77,065,219 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1481,503,501 - 81,517,450 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01482,744,101 - 82,758,050 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01479,189,401 - 79,203,350 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01482,336,283 - 82,350,069 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1482,336,324 - 82,347,679 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01483,025,668 - 83,039,454 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41482,746,460 - 82,760,864 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11482,748,850 - 82,763,255 (-)NCBI
Celera1475,974,760 - 75,988,702 (-)NCBICelera
Cytogenetic Map14q21NCBI
Tacc3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955514975,176 - 986,686 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955514973,457 - 986,640 (+)NCBIChiLan1.0ChiLan1.0
TACC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v232,049,942 - 2,074,164 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan141,985,172 - 2,009,451 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v041,858,595 - 1,882,727 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.141,772,836 - 1,796,019 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl41,772,836 - 1,796,019 (+)Ensemblpanpan1.1panPan2
TACC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1362,368,641 - 62,380,898 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl362,368,642 - 62,381,024 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha364,886,359 - 64,898,622 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0362,844,062 - 62,856,319 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl362,844,062 - 62,856,561 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1362,337,573 - 62,349,822 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0362,541,079 - 62,553,340 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0362,900,317 - 62,912,580 (-)NCBIUU_Cfam_GSD_1.0
Tacc3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528567,947,880 - 67,964,536 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647721,648,716 - 21,665,625 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647721,648,958 - 21,665,855 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TACC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8824,999 - 837,322 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18825,433 - 835,425 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28296,955 - 306,651 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TACC3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12747,021,970 - 47,045,571 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2747,021,965 - 47,045,223 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660513,398,606 - 3,422,223 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tacc3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475525,683,137 - 25,692,504 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475525,683,314 - 25,695,102 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TACC3
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000050809] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:1196923-2487080)x3 copy number gain See cases [RCV000051564] Chr4:1196923..2487080 [GRCh38]
Chr4:1190711..2488807 [GRCh37]
Chr4:1180711..2458605 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-2213205)x1 copy number loss See cases [RCV000051638] Chr4:56878..2213205 [GRCh38]
Chr4:56772..2214932 [GRCh37]
Chr4:46772..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2108748)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|See cases [RCV000051639] Chr4:72355..2108748 [GRCh38]
Chr4:72247..2110475 [GRCh37]
Chr4:62247..2080273 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2400359)x1 copy number loss See cases [RCV000051640] Chr4:72355..2400359 [GRCh38]
Chr4:72247..2402086 [GRCh37]
Chr4:62247..2371884 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2009034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|See cases [RCV000051669] Chr4:72555..2009034 [GRCh38]
Chr4:72447..2010761 [GRCh37]
Chr4:62447..1980559 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2325477)x1 copy number loss See cases [RCV000051643] Chr4:72555..2325477 [GRCh38]
Chr4:72447..2327204 [GRCh37]
Chr4:62447..2297002 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-1919505)x1 copy number loss See cases [RCV000053259] Chr4:85149..1919505 [GRCh38]
Chr4:85040..1921232 [GRCh37]
Chr4:75040..1891030 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-2008535)x1 copy number loss See cases [RCV000053260] Chr4:85149..2008535 [GRCh38]
Chr4:85040..2010262 [GRCh37]
Chr4:75040..1980060 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:336191-2213205)x1 copy number loss See cases [RCV000053261] Chr4:336191..2213205 [GRCh38]
Chr4:507005..2214932 [GRCh37]
Chr4:319980..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:1723429-2286479)x3 copy number gain See cases [RCV000137955] Chr4:1723429..2286479 [GRCh38]
Chr4:1725156..2288206 [GRCh37]
Chr4:1694954..2258004 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:1723429-1790274)x3 copy number gain See cases [RCV000140431] Chr4:1723429..1790274 [GRCh38]
Chr4:1725156..1792001 [GRCh37]
Chr4:1694954..1761799 [NCBI36]
Chr4:4p16.3		 likely benign
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:68453-1997458)x1 copy number loss See cases [RCV000141882] Chr4:68453..1997458 [GRCh38]
Chr4:68345..1999185 [GRCh37]
Chr4:58345..1968983 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 copy number loss See cases [RCV000143324] Chr4:72555..2689579 [GRCh38]
Chr4:72447..2691306 [GRCh37]
Chr4:62447..2661104 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1956092)x1 copy number loss See cases [RCV000143172] Chr4:36424..1956092 [GRCh38]
Chr4:36424..1957819 [GRCh37]
Chr4:26424..1927617 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:1699291-1973304)x1 copy number loss See cases [RCV000143548] Chr4:1699291..1973304 [GRCh38]
Chr4:1701018..1975031 [GRCh37]
Chr4:1670816..1944829 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3(chr4:1423130-2053191)x3 copy number gain See cases [RCV000143647] Chr4:1423130..2053191 [GRCh38]
Chr4:1416918..2054918 [GRCh37]
Chr4:1406918..2024716 [NCBI36]
Chr4:4p16.3		 likely benign|uncertain significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000148263] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
Single allele complex Heart, malformation of [RCV002280661] Chr4:68345..1870548 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1190911-2255904)x1 copy number loss See cases [RCV000239816] Chr4:1190911..2255904 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NC_000004.12:g.1735761_1806926dup duplication Endometrial carcinoma [RCV000590652] Chr4:1735761..1806926 [GRCh38]
Chr4:1737488..1808653 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1229130-1852978)x3 copy number gain See cases [RCV000449380] Chr4:1229130..1852978 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2126308)x1 copy number loss See cases [RCV000449467] Chr4:68345..2126308 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2155022)x1 copy number loss See cases [RCV000447208] Chr4:68345..2155022 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1 copy number loss See cases [RCV000449010] Chr4:68345..2502977 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1 copy number loss See cases [RCV000447910] Chr4:29214..1925508 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:910410-1798461)x3 copy number gain See cases [RCV000510819] Chr4:910410..1798461 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.710G>C (p.Arg237Pro) single nucleotide variant not specified [RCV004311841] Chr4:1728112 [GRCh38]
Chr4:1729839 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.2372C>T (p.Ala791Val) single nucleotide variant not specified [RCV004297673] Chr4:1744753 [GRCh38]
Chr4:1746480 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1500754-2344692)x3 copy number gain not provided [RCV000743203] Chr4:1500754..2344692 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1742616-1801241)x4 copy number gain not provided [RCV000743210] Chr4:1742616..1801241 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:1742616-1816281)x3 copy number gain not provided [RCV000743211] Chr4:1742616..1816281 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:49450-2010397)x1 copy number loss not provided [RCV000743153] Chr4:49450..2010397 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_006342.3(TACC3):c.1809C>T (p.Phe603=) single nucleotide variant not provided [RCV000970102] Chr4:1737301 [GRCh38]
Chr4:1739028 [GRCh37]
Chr4:4p16.3		 benign
NM_006342.3(TACC3):c.2348C>A (p.Ala783Asp) single nucleotide variant not provided [RCV000904350] Chr4:1744729 [GRCh38]
Chr4:1746456 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:1305802-2460571) copy number loss 4p partial monosomy syndrome [RCV000767708] Chr4:1305802..2460571 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_006342.3(TACC3):c.2451+8C>T single nucleotide variant not provided [RCV000981848] Chr4:1744840 [GRCh38]
Chr4:1746567 [GRCh37]
Chr4:4p16.3		 benign
NM_006342.3(TACC3):c.1605C>T (p.Gly535=) single nucleotide variant not provided [RCV000961507] Chr4:1735286 [GRCh38]
Chr4:1737013 [GRCh37]
Chr4:4p16.3		 benign
NM_006342.3(TACC3):c.1780C>T (p.Arg594Cys) single nucleotide variant not provided [RCV000922129] Chr4:1737272 [GRCh38]
Chr4:1738999 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:1537622-1752555)x3 copy number gain not provided [RCV000849678] Chr4:1537622..1752555 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1263544-1756564)x3 copy number gain not provided [RCV000846448] Chr4:1263544..1756564 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1 copy number loss not provided [RCV001005508] Chr4:68345..2786584 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1684415-1764940)x3 copy number gain not provided [RCV000846376] Chr4:1684415..1764940 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1588664-1741150)x3 copy number gain not provided [RCV000848255] Chr4:1588664..1741150 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1666159-1738239)x1 copy number loss not provided [RCV000847980] Chr4:1666159..1738239 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_006342.3(TACC3):c.1756G>A (p.Gly586Ser) single nucleotide variant not specified [RCV004295670] Chr4:1737248 [GRCh38]
Chr4:1738975 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1606G>A (p.Ala536Thr) single nucleotide variant not specified [RCV004299814] Chr4:1735287 [GRCh38]
Chr4:1737014 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1133C>T (p.Pro378Leu) single nucleotide variant not provided [RCV000961506] Chr4:1728535 [GRCh38]
Chr4:1730262 [GRCh37]
Chr4:4p16.3		 benign
NM_006342.3(TACC3):c.666_701del (p.213_224KAETPHGAEEEC[1]) deletion not provided [RCV000954621] Chr4:1728038..1728073 [GRCh38]
Chr4:1729765..1729800 [GRCh37]
Chr4:4p16.3		 benign
NM_006342.3(TACC3):c.782G>A (p.Gly261Glu) single nucleotide variant not provided [RCV000955328] Chr4:1728184 [GRCh38]
Chr4:1729911 [GRCh37]
Chr4:4p16.3		 benign
NM_006342.3(TACC3):c.1785G>A (p.Pro595=) single nucleotide variant not provided [RCV000929453] Chr4:1737277 [GRCh38]
Chr4:1739004 [GRCh37]
Chr4:4p16.3		 likely benign
NM_006342.3(TACC3):c.12G>A (p.Gln4=) single nucleotide variant not provided [RCV000956172] Chr4:1723433 [GRCh38]
Chr4:1725160 [GRCh37]
Chr4:4p16.3		 benign
NM_006342.3(TACC3):c.1386-10G>C single nucleotide variant not provided [RCV000956173] Chr4:1730877 [GRCh38]
Chr4:1732604 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1 copy number loss not provided [RCV002472653] Chr4:68346..2437290 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1734046-1871531)x1 copy number loss not provided [RCV002473806] Chr4:1734046..1871531 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3 copy number gain See cases [RCV001263050] Chr4:1420948..1836794 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3 copy number gain not provided [RCV001258635] Chr4:68345..2503033 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1377513-1725206)x3 copy number gain not provided [RCV001258640] Chr4:1377513..1725206 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1 copy number loss not provided [RCV001258634] Chr4:68345..2137211 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_006342.3(TACC3):c.98C>A (p.Ser33Ter) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374489] Chr4:1723519 [GRCh38]
Chr4:1725246 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NC_000004.11:g.(?_1619775)_(2181192_?)del deletion not provided [RCV001388563] Chr4:1619775..2181192 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:1537623-1740152)x3 copy number gain not provided [RCV001833077] Chr4:1537623..1740152 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NC_000004.11:g.(?_493125)_(2065854_?)del deletion not provided [RCV001975185] Chr4:493125..2065854 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)del deletion Fibrous dysplasia of jaw [RCV001943824] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(2886413_?)del deletion Mucopolysaccharidosis type 1 [RCV001960721] Chr4:493125..2886413 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)dup duplication Fibrous dysplasia of jaw [RCV003113187] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(1843544_?)del deletion not provided [RCV003119410] Chr4:493125..1843544 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.184C>T (p.Arg62Trp) single nucleotide variant not specified [RCV004287646] Chr4:1723749 [GRCh38]
Chr4:1725476 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
NM_006342.3(TACC3):c.1457G>C (p.Ser486Thr) single nucleotide variant not specified [RCV004319514] Chr4:1730958 [GRCh38]
Chr4:1732685 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:963688-2913553)x3 copy number gain not provided [RCV002473933] Chr4:963688..2913553 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:1180181-2009278)x3 copy number gain not provided [RCV002473490] Chr4:1180181..2009278 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_006342.3(TACC3):c.2395A>G (p.Ser799Gly) single nucleotide variant not specified [RCV004210763] Chr4:1744776 [GRCh38]
Chr4:1746503 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1877C>T (p.Pro626Leu) single nucleotide variant not specified [RCV004215986] Chr4:1737638 [GRCh38]
Chr4:1739365 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1769C>T (p.Thr590Ile) single nucleotide variant not specified [RCV004122628] Chr4:1737261 [GRCh38]
Chr4:1738988 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.561T>A (p.Ser187Arg) single nucleotide variant not specified [RCV004151517] Chr4:1727963 [GRCh38]
Chr4:1729690 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.518A>G (p.Lys173Arg) single nucleotide variant not specified [RCV004148947] Chr4:1727920 [GRCh38]
Chr4:1729647 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.758G>T (p.Gly253Val) single nucleotide variant not specified [RCV004192884] Chr4:1728160 [GRCh38]
Chr4:1729887 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.74C>T (p.Ser25Leu) single nucleotide variant not specified [RCV004098759] Chr4:1723495 [GRCh38]
Chr4:1725222 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.654C>G (p.His218Gln) single nucleotide variant not specified [RCV004164642] Chr4:1728056 [GRCh38]
Chr4:1729783 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1996C>T (p.His666Tyr) single nucleotide variant not specified [RCV004113894] Chr4:1739756 [GRCh38]
Chr4:1741483 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1847C>A (p.Pro616Gln) single nucleotide variant not specified [RCV004146983] Chr4:1737608 [GRCh38]
Chr4:1739335 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.2182C>T (p.Arg728Cys) single nucleotide variant not specified [RCV004144297] Chr4:1740945 [GRCh38]
Chr4:1742672 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1231G>A (p.Asp411Asn) single nucleotide variant not specified [RCV004124102] Chr4:1728633 [GRCh38]
Chr4:1730360 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.989C>T (p.Ser330Phe) single nucleotide variant not specified [RCV004118389] Chr4:1728391 [GRCh38]
Chr4:1730118 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.109C>G (p.Arg37Gly) single nucleotide variant not specified [RCV004225060] Chr4:1723530 [GRCh38]
Chr4:1725257 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1601C>T (p.Thr534Met) single nucleotide variant not specified [RCV004077431] Chr4:1735282 [GRCh38]
Chr4:1737009 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.233T>C (p.Leu78Pro) single nucleotide variant not specified [RCV004196924] Chr4:1723798 [GRCh38]
Chr4:1725525 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.2095G>A (p.Ala699Thr) single nucleotide variant not specified [RCV004231889] Chr4:1740858 [GRCh38]
Chr4:1742585 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1668G>C (p.Lys556Asn) single nucleotide variant not specified [RCV004154612] Chr4:1735754 [GRCh38]
Chr4:1737481 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.992C>G (p.Ser331Trp) single nucleotide variant not specified [RCV004238885] Chr4:1728394 [GRCh38]
Chr4:1730121 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1729G>A (p.Val577Met) single nucleotide variant not specified [RCV004192483] Chr4:1735815 [GRCh38]
Chr4:1737542 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.850C>T (p.Pro284Ser) single nucleotide variant not specified [RCV004071339] Chr4:1728252 [GRCh38]
Chr4:1729979 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.686C>T (p.Pro229Leu) single nucleotide variant not specified [RCV004189120] Chr4:1728088 [GRCh38]
Chr4:1729815 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.751C>A (p.Pro251Thr) single nucleotide variant not specified [RCV004242019] Chr4:1728153 [GRCh38]
Chr4:1729880 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.157A>G (p.Met53Val) single nucleotide variant not specified [RCV004182499] Chr4:1723578 [GRCh38]
Chr4:1725305 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1141G>A (p.Val381Met) single nucleotide variant not specified [RCV004159588] Chr4:1728543 [GRCh38]
Chr4:1730270 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.878G>T (p.Cys293Phe) single nucleotide variant not specified [RCV004226409] Chr4:1728280 [GRCh38]
Chr4:1730007 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1982G>A (p.Arg661Lys) single nucleotide variant not specified [RCV004321945] Chr4:1739742 [GRCh38]
Chr4:1741469 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1786C>T (p.Arg596Trp) single nucleotide variant not specified [RCV004262568] Chr4:1737278 [GRCh38]
Chr4:1739005 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.2510A>G (p.Lys837Arg) single nucleotide variant not specified [RCV004268237] Chr4:1745006 [GRCh38]
Chr4:1746733 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_006342.3(TACC3):c.313C>G (p.Leu105Val) single nucleotide variant not specified [RCV004322595] Chr4:1727715 [GRCh38]
Chr4:1729442 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.2260C>G (p.Leu754Val) single nucleotide variant not specified [RCV004325295] Chr4:1744554 [GRCh38]
Chr4:1746281 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_006342.3(TACC3):c.481C>G (p.Pro161Ala) single nucleotide variant not specified [RCV004344331] Chr4:1727883 [GRCh38]
Chr4:1729610 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1180C>A (p.Pro394Thr) single nucleotide variant not specified [RCV004354797] Chr4:1728582 [GRCh38]
Chr4:1730309 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1346C>T (p.Ala449Val) single nucleotide variant not specified [RCV004355210] Chr4:1728748 [GRCh38]
Chr4:1730475 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1834C>G (p.Pro612Ala) single nucleotide variant not specified [RCV004340151] Chr4:1737326 [GRCh38]
Chr4:1739053 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1153G>A (p.Asp385Asn) single nucleotide variant not specified [RCV004360086] Chr4:1728555 [GRCh38]
Chr4:1730282 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1291C>G (p.Pro431Ala) single nucleotide variant not specified [RCV004349246] Chr4:1728693 [GRCh38]
Chr4:1730420 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1427A>C (p.Gln476Pro) single nucleotide variant not specified [RCV004350279] Chr4:1730928 [GRCh38]
Chr4:1732655 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2681414)x1 copy number loss not provided [RCV003485406] Chr4:68346..2681414 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4 copy number gain not provided [RCV003485344] Chr4:1497034..2571696 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3510024)x1 copy number loss not specified [RCV003986499] Chr4:68345..3510024 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:769757-2009467)x3 copy number gain not specified [RCV003986525] Chr4:769757..2009467 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68346-3122209)x1 copy number loss not specified [RCV003986538] Chr4:68346..3122209 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_006342.3(TACC3):c.781G>A (p.Gly261Arg) single nucleotide variant not specified [RCV004466244] Chr4:1728183 [GRCh38]
Chr4:1729910 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1000G>A (p.Gly334Arg) single nucleotide variant not specified [RCV004466220] Chr4:1728402 [GRCh38]
Chr4:1730129 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1864G>A (p.Ala622Thr) single nucleotide variant not specified [RCV004466228] Chr4:1737625 [GRCh38]
Chr4:1739352 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.509C>T (p.Ser170Phe) single nucleotide variant not specified [RCV004466235] Chr4:1727911 [GRCh38]
Chr4:1729638 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.611A>T (p.Asp204Val) single nucleotide variant not specified [RCV004466237] Chr4:1728013 [GRCh38]
Chr4:1729740 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.670T>C (p.Cys224Arg) single nucleotide variant not specified [RCV004466241] Chr4:1728072 [GRCh38]
Chr4:1729799 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1054C>T (p.Pro352Ser) single nucleotide variant not specified [RCV004466221] Chr4:1728456 [GRCh38]
Chr4:1730183 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1348G>C (p.Gly450Arg) single nucleotide variant not specified [RCV004466222] Chr4:1728750 [GRCh38]
Chr4:1730477 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1442C>T (p.Thr481Ile) single nucleotide variant not specified [RCV004466224] Chr4:1730943 [GRCh38]
Chr4:1732670 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.2310C>G (p.His770Gln) single nucleotide variant not specified [RCV004466231] Chr4:1744604 [GRCh38]
Chr4:1746331 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.367G>A (p.Glu123Lys) single nucleotide variant not specified [RCV004466233] Chr4:1727769 [GRCh38]
Chr4:1729496 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1411G>A (p.Asp471Asn) single nucleotide variant not specified [RCV004466223] Chr4:1730912 [GRCh38]
Chr4:1732639 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1528A>C (p.Thr510Pro) single nucleotide variant not specified [RCV004466226] Chr4:1731238 [GRCh38]
Chr4:1732965 [GRCh37]
Chr4:4p16.3		 likely benign
NM_006342.3(TACC3):c.259A>G (p.Thr87Ala) single nucleotide variant not specified [RCV004466232] Chr4:1723824 [GRCh38]
Chr4:1725551 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.739G>C (p.Val247Leu) single nucleotide variant not specified [RCV004466242] Chr4:1728141 [GRCh38]
Chr4:1729868 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1486A>T (p.Thr496Ser) single nucleotide variant not specified [RCV004466225] Chr4:1731196 [GRCh38]
Chr4:1732923 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1937C>A (p.Ala646Glu) single nucleotide variant not specified [RCV004466229] Chr4:1737698 [GRCh38]
Chr4:1739425 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.857A>G (p.Asp286Gly) single nucleotide variant not specified [RCV004466245] Chr4:1728259 [GRCh38]
Chr4:1729986 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.1840C>G (p.Pro614Ala) single nucleotide variant not specified [RCV004466227] Chr4:1737601 [GRCh38]
Chr4:1739328 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.222G>A (p.Met74Ile) single nucleotide variant not specified [RCV004466230] Chr4:1723787 [GRCh38]
Chr4:1725514 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.466A>G (p.Ser156Gly) single nucleotide variant not specified [RCV004466234] Chr4:1727868 [GRCh38]
Chr4:1729595 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.568T>G (p.Ser190Ala) single nucleotide variant not specified [RCV004466236] Chr4:1727970 [GRCh38]
Chr4:1729697 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.643G>A (p.Glu215Lys) single nucleotide variant not specified [RCV004466238] Chr4:1728045 [GRCh38]
Chr4:1729772 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.661G>A (p.Glu221Lys) single nucleotide variant not specified [RCV004466239] Chr4:1728063 [GRCh38]
Chr4:1729790 [GRCh37]
Chr4:4p16.3		 likely benign
NM_006342.3(TACC3):c.746C>T (p.Thr249Ile) single nucleotide variant not specified [RCV004466243] Chr4:1728148 [GRCh38]
Chr4:1729875 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_006342.3(TACC3):c.667G>C (p.Glu223Gln) single nucleotide variant not specified [RCV004466240] Chr4:1728069 [GRCh38]
Chr4:1729796 [GRCh37]
Chr4:4p16.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2804
Count of miRNA genes:901
Interacting mature miRNAs:1125
Transcripts:ENST00000313288, ENST00000458173, ENST00000466077, ENST00000467746, ENST00000470136, ENST00000470808, ENST00000484264, ENST00000484651, ENST00000485989, ENST00000493975
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
SHGC-59556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,729,047 - 1,729,179UniSTSGRCh37
Build 3641,698,845 - 1,698,977RGDNCBI36
Celera41,640,097 - 1,640,229RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,671,943 - 1,672,075UniSTS
GeneMap99-GB4 RH Map422.34UniSTS
SHGC4-824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,732,996 - 1,733,203UniSTSGRCh37
Build 3641,702,794 - 1,703,001RGDNCBI36
Celera41,644,046 - 1,644,253RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,675,892 - 1,676,099UniSTS
TNG Radiation Hybrid Map41021.0UniSTS
SHGC-78926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,729,623 - 1,729,814UniSTSGRCh37
Build 3641,699,421 - 1,699,612RGDNCBI36
Celera41,640,673 - 1,640,864RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,672,519 - 1,672,710UniSTS
TNG Radiation Hybrid Map41021.0UniSTS
RH103601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,730,222 - 1,730,399UniSTSGRCh37
Build 3641,700,020 - 1,700,197RGDNCBI36
Celera41,641,272 - 1,641,449RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,673,118 - 1,673,295UniSTS
GeneMap99-GB4 RH Map424.06UniSTS
D4S113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,728,359 - 1,728,530UniSTSGRCh37
Build 3641,698,157 - 1,698,328RGDNCBI36
Celera41,639,409 - 1,639,580RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,671,255 - 1,671,426UniSTS
Stanford-G3 RH Map4141.0UniSTS
SHGC-63615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,746,682 - 1,746,792UniSTSGRCh37
Build 3641,716,480 - 1,716,590RGDNCBI36
Celera41,657,723 - 1,657,833RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,689,574 - 1,689,684UniSTS
RH47676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,729,885 - 1,730,010UniSTSGRCh37
Build 3641,699,683 - 1,699,808RGDNCBI36
Celera41,640,935 - 1,641,060RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,672,781 - 1,672,906UniSTS
GeneMap99-GB4 RH Map424.01UniSTS
NCBI RH Map457.5UniSTS
STS-N23259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,746,693 - 1,746,874UniSTSGRCh37
Build 3641,716,491 - 1,716,672RGDNCBI36
Celera41,657,734 - 1,657,915RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,689,585 - 1,689,766UniSTS
TNG Radiation Hybrid Map41030.0UniSTS
GeneMap99-GB4 RH Map424.01UniSTS
NCBI RH Map448.8UniSTS


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 610 842 203 120 1873 104 634 82 167 130 756 814 29 184 148 3
Low 1829 2142 1521 503 78 360 3716 2102 3535 289 701 799 145 1 1020 2633 3 2
Below cutoff 6 2 1 1 7 13 21 1 7

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_064424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA682436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF093543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF479620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI684124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB098941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U38441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000313288   ⟹   ENSP00000326550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,721,521 - 1,745,171 (+)Ensembl
RefSeq Acc Id: ENST00000404054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,739,351 - 1,742,121 (+)Ensembl
RefSeq Acc Id: ENST00000458173   ⟹   ENSP00000415914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,712,891 - 1,728,219 (+)Ensembl
RefSeq Acc Id: ENST00000466077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,730,803 - 1,737,645 (+)Ensembl
RefSeq Acc Id: ENST00000467746   ⟹   ENSP00000418727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,721,535 - 1,728,058 (+)Ensembl
RefSeq Acc Id: ENST00000470136   ⟹   ENSP00000420838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,728,404 - 1,735,834 (+)Ensembl
RefSeq Acc Id: ENST00000470808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,739,345 - 1,741,294 (+)Ensembl
RefSeq Acc Id: ENST00000484264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,744,439 - 1,745,076 (+)Ensembl
RefSeq Acc Id: ENST00000484651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,721,519 - 1,738,350 (+)Ensembl
RefSeq Acc Id: ENST00000485989   ⟹   ENSP00000419210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,721,500 - 1,735,747 (+)Ensembl
RefSeq Acc Id: ENST00000493975   ⟹   ENSP00000418095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,721,785 - 1,728,094 (+)Ensembl
RefSeq Acc Id: ENST00000612220   ⟹   ENSP00000478580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,721,500 - 1,745,163 (+)Ensembl
RefSeq Acc Id: ENST00000617535   ⟹   ENSP00000483196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,721,545 - 1,745,168 (+)Ensembl
RefSeq Acc Id: ENST00000650779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,727,605 - 1,737,261 (+)Ensembl
RefSeq Acc Id: ENST00000651251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,723,110 - 1,745,170 (+)Ensembl
RefSeq Acc Id: ENST00000651472   ⟹   ENSP00000498361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,721,078 - 1,745,127 (+)Ensembl
RefSeq Acc Id: ENST00000651817   ⟹   ENSP00000498817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,728,413 - 1,745,095 (+)Ensembl
RefSeq Acc Id: ENST00000652002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,712,858 - 1,715,945 (+)Ensembl
RefSeq Acc Id: ENST00000652770   ⟹   ENSP00000498219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,722,224 - 1,745,163 (+)Ensembl
RefSeq Acc Id: NM_001410699   ⟹   NP_001397628
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,721,521 - 1,745,171 (+)NCBI
T2T-CHM13v2.041,719,350 - 1,742,998 (+)NCBI
RefSeq Acc Id: NM_006342   ⟹   NP_006333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,721,521 - 1,745,171 (+)NCBI
GRCh3741,723,217 - 1,746,905 (+)NCBI
Build 3641,693,062 - 1,716,696 (+)NCBI Archive
HuRef41,666,111 - 1,689,797 (+)NCBI
CHM1_141,721,189 - 1,744,883 (+)NCBI
T2T-CHM13v2.041,719,350 - 1,742,998 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005247929   ⟹   XP_005247986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,721,521 - 1,745,171 (+)NCBI
GRCh3741,723,217 - 1,746,905 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005247930   ⟹   XP_005247987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,721,521 - 1,745,171 (+)NCBI
GRCh3741,723,217 - 1,746,905 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513386   ⟹   XP_011511688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,721,521 - 1,740,723 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007653   ⟹   XP_016863142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,721,521 - 1,745,171 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449523   ⟹   XP_047305479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,721,521 - 1,739,316 (+)NCBI
RefSeq Acc Id: XM_054348763   ⟹   XP_054204738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,719,350 - 1,742,998 (+)NCBI
RefSeq Acc Id: XM_054348764   ⟹   XP_054204739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,720,910 - 1,742,998 (+)NCBI
RefSeq Acc Id: XM_054348765   ⟹   XP_054204740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,719,323 - 1,742,998 (+)NCBI
RefSeq Acc Id: XM_054348766   ⟹   XP_054204741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,720,834 - 1,742,998 (+)NCBI
RefSeq Acc Id: XM_054348767   ⟹   XP_054204742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,720,876 - 1,742,998 (+)NCBI
RefSeq Acc Id: XM_054348768   ⟹   XP_054204743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,719,350 - 1,738,395 (+)NCBI
RefSeq Acc Id: XM_054348769   ⟹   XP_054204744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,719,350 - 1,736,327 (+)NCBI
RefSeq Acc Id: XM_054348770   ⟹   XP_054204745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,719,350 - 1,742,998 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001397628 (Get FASTA)   NCBI Sequence Viewer  
  NP_006333 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247986 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247987 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511688 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863142 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305479 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204738 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204739 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204740 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204741 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204742 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204743 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204744 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204745 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD25964 (Get FASTA)   NCBI Sequence Viewer  
  AAI06072 (Get FASTA)   NCBI Sequence Viewer  
  AAI11772 (Get FASTA)   NCBI Sequence Viewer  
  AAN76993 (Get FASTA)   NCBI Sequence Viewer  
  BAG63753 (Get FASTA)   NCBI Sequence Viewer  
  BAG65367 (Get FASTA)   NCBI Sequence Viewer  
  CAB53009 (Get FASTA)   NCBI Sequence Viewer  
  EAW82574 (Get FASTA)   NCBI Sequence Viewer  
  EAW82575 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000326550
  ENSP00000326550.4
  ENSP00000415914.4
  ENSP00000418095.1
  ENSP00000418727.1
  ENSP00000420838.1
  ENSP00000478580
  ENSP00000478580.2
  ENSP00000498219.1
  ENSP00000498361.1
  ENSP00000498817.1
GenBank Protein Q9Y6A5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006333   ⟸   NM_006342
- Peptide Label: isoform 1
- UniProtKB: Q3KQS5 (UniProtKB/Swiss-Prot),   Q2NKK4 (UniProtKB/Swiss-Prot),   Q9UMQ1 (UniProtKB/Swiss-Prot),   Q9Y6A5 (UniProtKB/Swiss-Prot),   A0A494BZT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247986   ⟸   XM_005247929
- Peptide Label: isoform X1
- UniProtKB: A0A494BZT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247987   ⟸   XM_005247930
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011511688   ⟸   XM_011513386
- Peptide Label: isoform X3
- UniProtKB: B4DYJ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863142   ⟸   XM_017007653
- Peptide Label: isoform X2
- UniProtKB: Q3KQS5 (UniProtKB/Swiss-Prot),   Q2NKK4 (UniProtKB/Swiss-Prot),   Q9UMQ1 (UniProtKB/Swiss-Prot),   Q9Y6A5 (UniProtKB/Swiss-Prot),   A0A494BZT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000418727   ⟸   ENST00000467746
RefSeq Acc Id: ENSP00000418095   ⟸   ENST00000493975
RefSeq Acc Id: ENSP00000498817   ⟸   ENST00000651817
RefSeq Acc Id: ENSP00000478580   ⟸   ENST00000612220
RefSeq Acc Id: ENSP00000498361   ⟸   ENST00000651472
RefSeq Acc Id: ENSP00000498219   ⟸   ENST00000652770
RefSeq Acc Id: ENSP00000415914   ⟸   ENST00000458173
RefSeq Acc Id: ENSP00000326550   ⟸   ENST00000313288
RefSeq Acc Id: ENSP00000420838   ⟸   ENST00000470136
RefSeq Acc Id: ENSP00000483196   ⟸   ENST00000617535
RefSeq Acc Id: ENSP00000419210   ⟸   ENST00000485989
RefSeq Acc Id: XP_047305479   ⟸   XM_047449523
- Peptide Label: isoform X4
RefSeq Acc Id: NP_001397628   ⟸   NM_001410699
- Peptide Label: isoform 2
- UniProtKB: A0A087WUE2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204740   ⟸   XM_054348765
- Peptide Label: isoform X2
- UniProtKB: Q9Y6A5 (UniProtKB/Swiss-Prot),   Q3KQS5 (UniProtKB/Swiss-Prot),   Q2NKK4 (UniProtKB/Swiss-Prot),   Q9UMQ1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054204738   ⟸   XM_054348763
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054204745   ⟸   XM_054348770
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054204743   ⟸   XM_054348768
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054204744   ⟸   XM_054348769
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054204741   ⟸   XM_054348766
- Peptide Label: isoform X2
- UniProtKB: Q9Y6A5 (UniProtKB/Swiss-Prot),   Q3KQS5 (UniProtKB/Swiss-Prot),   Q2NKK4 (UniProtKB/Swiss-Prot),   Q9UMQ1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054204742   ⟸   XM_054348767
- Peptide Label: isoform X2
- UniProtKB: Q9Y6A5 (UniProtKB/Swiss-Prot),   Q3KQS5 (UniProtKB/Swiss-Prot),   Q2NKK4 (UniProtKB/Swiss-Prot),   Q9UMQ1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054204739   ⟸   XM_054348764
- Peptide Label: isoform X1
Protein Domains
Transforming acidic coiled-coil-containing protein

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y6A5-F1-model_v2 AlphaFold Q9Y6A5 1-838 view protein structure

Promoters
RGD ID:6802201
Promoter ID:HG_KWN:47671
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:ENST00000343760,   OTTHUMT00000203730,   OTTHUMT00000241635,   UC003GDP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,691,346 - 1,693,012 (+)MPROMDB
RGD ID:6802641
Promoter ID:HG_KWN:47672
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:UC010IBZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,694,296 - 1,695,097 (+)MPROMDB
RGD ID:6802640
Promoter ID:HG_KWN:47673
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:UC010ICA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,702,226 - 1,702,827 (+)MPROMDB
RGD ID:6812628
Promoter ID:HG_ACW:57858
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:TACC3.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,708,751 - 1,709,251 (+)MPROMDB
RGD ID:6866838
Promoter ID:EPDNEW_H6584
Type:initiation region
Name:TACC3_2
Description:transforming acidic coiled-coil containing protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6587  EPDNEW_H6588  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,720,631 - 1,720,691EPDNEW
RGD ID:6866844
Promoter ID:EPDNEW_H6587
Type:initiation region
Name:TACC3_1
Description:transforming acidic coiled-coil containing protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6584  EPDNEW_H6588  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,721,522 - 1,721,582EPDNEW
RGD ID:6866846
Promoter ID:EPDNEW_H6588
Type:initiation region
Name:TACC3_3
Description:transforming acidic coiled-coil containing protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6584  EPDNEW_H6587  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,723,416 - 1,723,476EPDNEW
RGD ID:6852298
Promoter ID:EP73909
Type:initiation region
Name:HS_TACC3
Description:Transforming, acidic coiled-coil containing protein 3.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:No map positions available.

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11524 AgrOrtholog
COSMIC TACC3 COSMIC
Ensembl Genes ENSG00000013810 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000313288 ENTREZGENE
  ENST00000313288.9 UniProtKB/Swiss-Prot
  ENST00000458173.4 UniProtKB/TrEMBL
  ENST00000467746.6 UniProtKB/TrEMBL
  ENST00000470136.2 UniProtKB/TrEMBL
  ENST00000493975.5 UniProtKB/TrEMBL
  ENST00000612220 ENTREZGENE
  ENST00000612220.5 UniProtKB/TrEMBL
  ENST00000651472.1 UniProtKB/Swiss-Prot
  ENST00000651817.1 UniProtKB/TrEMBL
  ENST00000652770.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.1700 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000013810 GTEx
HGNC ID HGNC:11524 ENTREZGENE
Human Proteome Map TACC3 Human Proteome Map
InterPro TACC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TACC_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10460 UniProtKB/Swiss-Prot
NCBI Gene 10460 ENTREZGENE
OMIM 605303 OMIM
PANTHER PTHR13924 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSFORMING ACIDIC COILED-COIL-CONTAINING PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TACC_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36301 PharmGKB
UniProt A0A087WUE2 ENTREZGENE, UniProtKB/TrEMBL
  A0A494BZT8 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C117_HUMAN UniProtKB/TrEMBL
  B4DYJ1 ENTREZGENE, UniProtKB/TrEMBL
  C9JA91_HUMAN UniProtKB/TrEMBL
  E7EMT0_HUMAN UniProtKB/TrEMBL
  F8WC55_HUMAN UniProtKB/TrEMBL
  H0Y8F2_HUMAN UniProtKB/TrEMBL
  Q2NKK4 ENTREZGENE
  Q3KQS5 ENTREZGENE
  Q9UMQ1 ENTREZGENE
  Q9Y6A5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q2NKK4 UniProtKB/Swiss-Prot
  Q3KQS5 UniProtKB/Swiss-Prot
  Q9UMQ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 TACC3  transforming acidic coiled-coil containing protein 3    transforming, acidic coiled-coil containing protein 3  Symbol and/or name change 5135510 APPROVED