GENE VIEW

MOUSE GENE INFORMATION [PubMed]
Description Treacher Collins Franceschetti syndrome 1, homolog
Synonyms treacle
Chromosome 18
Genetic Map Distance 34.41 cM
RefSeq Accessions NM_001198984; NM_011552; NP_001185913; NP_035682
NCBI Entrez Gene 21453 at chr18:60974196-61008562 (mm9) / chr18:60813736-60848984 (mm10)
Ensembl Gene ENSMUSG00000024613
VEGA Gene
MGI Gene MGI:892003
Mouse Protein (7)
UniProt ID Description Length (AA) Predicted # TMs
O08784 Treacle protein 1320 0
Q05BH6 Tcof1 protein (Fragment) 1237 0
Q05CS0 Tcof1 protein 1013 0
Q3TAB2 Putative uncharacterized protein (Fragment) 696 0
Q3TBZ3 Putative uncharacterized protein (Fragment) 650 0
Q6PFZ6 Tcof1 protein 942 0
Q7TPZ2 Tcof1 protein (Fragment) 1320 0
Pfam Domains Pfam-B_4605; Treacle; Treacle; Treacle
Mouse alleles (4)
Allele Name Allele Type
Tcof1tm1a(EUCOMM)Wtsi EUCOMM-projects
Tcof1tm2a(KOMP)Wtsi KOMP-CSD-Project
Tcof1tm1(KOMP)Vlcg KOMP-Regeneron-Project
Tcof1tm1Mjd Targeted (knock-out)
Human Homolog TCOF1 (Treacher Collins-Franceschetti syndrome 1)
Human synonyms MFD1; TCS1; treacle
Human cytoband 5q32-q33.1
Known deafness gene TCOF1
Within mapped deafness loci No
Associated Human Disease in OMIM
Chicken homolog (4)
ENSGALG00000005535 (Q5F3A3_CHICK) encoding ENSGALP00000008866
ENSGALG00000005535 (Q5F3A3_CHICK) encoding ENSGALP00000039715
ENSGALG00000005535 (Q5F3A3_CHICK) encoding ENSGALP00000039717
ENSGALG00000005535 (Q5F3A3_CHICK) encoding ENSGALP00000039719
Gene Ontology
Biological Process (2) transport; transcription of nuclear large rRNA transcript from RNA polymerase I promoter
Cellular Component (4) nucleus; cytoplasm; nucleolus; nucleolus
FACS-Sorted Hair Cells
Data | Chart
E16a
E16b
P0
P4
P7
P16
Utricle GFP+ cells
4
0
0
4
1
0
Cochlea GFP+ cells
7
5
2
0
0
NA
Utricle GFP- cells
17
6
2
3
7
0
Cochlea GFP- cells
10
5
8
6
7
NA
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
GFP-
6
GFP+
2
0.34
0.729
Utricle
4
Cochlea
5
1.32
1
Embryonic
7
Postnatal
3
0.47
0.614
Adult Cochlear Inner and Outer Hair Cells
Probeset ID IHC (mean ± sd) OHC (mean ± sd) [OHC replicate] Fold Change (OHC/IHC) False Discovery Rate (FDR)
17354653 24.69 ± 2.45 31.08 ± 4.65 [21.17] 1.26 0.501
Otic Progenitor Cells
Data
Growth Factor
Replicate 1
Replicate 2
Replicate 3
Mean
bFGF
3628
3999
3969
3550
No bFGF
2534
2664
2485
2841
EGF
2690
2606
2579
2625
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
bFGF
3550
No bFGF
2841
0.80
1
bFGF
3550
EGF
2625
0.74
0.00221
No bFGF
2841
EGF
2625
0.92
0.552
Chicken Stereocilium Proteomics
Protein ID ENSGALP00000008866
Symbol TCOF1
Description Treacher Collins-Franceschetti syndrome 1
log10 riBAQ in stereocilia (mean ± sd) ND
log10 riBAQ in utricle (mean ± sd) -4.94 ± 0.09
Molecules per stereocilium (mean ± error with slope error) ND
Corrected Molecules per stereocilium (mean ± sd) ND
Stereocilium / Utricle ratio (mean ± sd) UTR only
Enriched in the stereocilia (FDR < 0.05) NA
Auditory and Vestibular Ganglion Neurons
Probe set ID: 1423600_a_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 42.71 25.15 22.64 21.31 19.78 47.88
Replicate 1 Call P P P A A P
Replicate 2 44.69 26.62 33.09 26.7 39.02 43.34
Replicate 2 Call P P P A P P
Replicate 3 40.1 48.69 42.55 33.79 24.06 33.78
Replicate 3 Call P P P P A A
Replicate 4 42.29 29.17 31.34 33.49
Replicate 4 Call P P A P
Mean 42.5 33.49 35.14 27.74 28.55 39.62
Standard Deviation 2.3 13.19 9.42 5.2 8.46 7.16
Log2 Mean 5.41 5 5.09 4.77 4.79 5.29
Log2 Standard Deviation 0.08 0.53 0.43 0.28 0.43 0.26
 
Vestibular ganglion
Replicate 1 50.32 31.12 32.81 40.84 33.3 6.85
Replicate 1 Call P P P P A A
Replicate 2 40.37 24.97 41.65 39.04 29.58 22.04
Replicate 2 Call P P P A P P
Replicate 3 37.01 32.77 57.34 39.98 27.98 25.63
Replicate 3 Call P P P P P P
Mean 42.57 29.62 43.93 39.95 30.29 18.17
Standard Deviation 6.92 4.11 12.42 0.9 2.73 9.97
Log2 Mean 5.4 4.88 5.42 5.32 4.92 3.97
Log2 Standard Deviation 0.23 0.21 0.4 0.03 0.13 1.04
Probe set ID: 1423601_s_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 28.15 15.49 25.3 11.72 24.31 29.33
Replicate 1 Call A A P A A A
Replicate 2 32.26 16.23 69.32 7.52 10.72 14.77
Replicate 2 Call A A P A A A
Replicate 3 21.82 23.42 59.27 8.55 4.8 17.18
Replicate 3 Call A P P A A A
Replicate 4 57.16 26.56 8.84 12.4
Replicate 4 Call P A A A
Mean 27.41 18.38 52.76 13.59 12.17 18.42
Standard Deviation 5.26 4.38 19.06 8.83 8.46 7.53
Log2 Mean 4.76 4.17 5.63 3.57 3.36 4.12
Log2 Standard Deviation 0.29 0.33 0.65 0.82 0.97 0.54
 
Vestibular ganglion
Replicate 1 6.34 15.75 2.82 5.45 17.09 12.96
Replicate 1 Call A P A A A P
Replicate 2 28.08 16.6 20.1 8.39 1.07 10.17
Replicate 2 Call A P A A A A
Replicate 3 23.64 12.91 1.82 21.84 15.43 12.55
Replicate 3 Call A A A A A A
Mean 19.35 15.09 8.25 11.89 11.2 11.89
Standard Deviation 11.49 1.93 10.28 8.74 8.81 1.51
Log2 Mean 4.01 3.91 2.23 3.32 2.71 3.56
Log2 Standard Deviation 1.17 0.19 1.85 1.02 2.27 0.19
Probe set ID: 1424643_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 506 357.42 351.6 242.11 325.86 245.96
Replicate 1 Call P P P A A A
Replicate 2 544.58 429.48 506.98 407.41 314.29 316.81
Replicate 2 Call P P P A A A
Replicate 3 504.6 498.2 550.78 211.5 308.9 276.27
Replicate 3 Call P P P A A A
Replicate 4 543.5 295.63 420.73 281.35
Replicate 4 Call A A A A
Mean 518.39 428.37 488.22 289.16 342.45 280.1
Standard Deviation 22.69 70.4 93.07 86.16 52.67 29.04
Log2 Mean 9.02 8.73 8.91 8.13 8.41 8.12
Log2 Standard Deviation 0.06 0.24 0.31 0.41 0.21 0.15
 
Vestibular ganglion
Replicate 1 462.53 575.75 201.01 131.16 79.48 221.81
Replicate 1 Call P P A A A P
Replicate 2 454.14 530.82 268.88 139.34 189.48 201.42
Replicate 2 Call P P A A A P
Replicate 3 442.48 494.46 78.95 160.18 146.99 208.58
Replicate 3 Call P P A A A P
Mean 453.05 533.68 182.95 143.56 138.65 210.6
Standard Deviation 10.07 40.72 96.24 14.96 55.47 10.34
Log2 Mean 8.82 9.06 7.34 7.16 7.03 7.72
Log2 Standard Deviation 0.03 0.11 0.92 0.15 0.64 0.07