CCDC149 (coiled-coil domain containing 149) - Rat Genome Database

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Gene: CCDC149 (coiled-coil domain containing 149) Homo sapiens
Analyze
Symbol: CCDC149
Name: coiled-coil domain containing 149
RGD ID: 1606995
HGNC Page HGNC:25405
Description: ASSOCIATED WITH genetic disease; INTERACTS WITH 17beta-estradiol; Aflatoxin B2 alpha; aristolochic acid A
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: coiled-coil domain-containing protein 149; DKFZp761B107; FLJ13410
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38424,803,514 - 24,980,204 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl424,803,514 - 24,980,204 (-)EnsemblGRCh38hg38GRCh38
GRCh37424,805,136 - 24,981,826 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36424,437,679 - 24,590,924 (-)NCBINCBI36Build 36hg18NCBI36
Celera425,257,207 - 25,430,723 (-)NCBICelera
Cytogenetic Map4p15.2NCBI
HuRef424,150,242 - 24,322,736 (-)NCBIHuRef
CHM1_1424,807,112 - 24,981,193 (-)NCBICHM1_1
T2T-CHM13v2.0424,785,445 - 24,962,121 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:16344560   PMID:17457313   PMID:18482256   PMID:20379614   PMID:21832049   PMID:25130324   PMID:29513927   PMID:32707033  


Genomics

Comparative Map Data
CCDC149
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38424,803,514 - 24,980,204 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl424,803,514 - 24,980,204 (-)EnsemblGRCh38hg38GRCh38
GRCh37424,805,136 - 24,981,826 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36424,437,679 - 24,590,924 (-)NCBINCBI36Build 36hg18NCBI36
Celera425,257,207 - 25,430,723 (-)NCBICelera
Cytogenetic Map4p15.2NCBI
HuRef424,150,242 - 24,322,736 (-)NCBIHuRef
CHM1_1424,807,112 - 24,981,193 (-)NCBICHM1_1
T2T-CHM13v2.0424,785,445 - 24,962,121 (-)NCBIT2T-CHM13v2.0
Ccdc149
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39552,531,993 - 52,629,018 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl552,531,993 - 52,628,863 (-)EnsemblGRCm39 Ensembl
GRCm38552,374,651 - 52,471,578 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl552,374,651 - 52,471,521 (-)EnsemblGRCm38mm10GRCm38
MGSCv37552,767,037 - 52,862,776 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36552,765,890 - 52,766,880 (-)NCBIMGSCv36mm8
Celera549,744,352 - 49,840,057 (-)NCBICelera
Cytogenetic Map5C1NCBI
cM Map527.94NCBI
Ccdc149
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81462,722,567 - 62,817,778 (+)NCBIGRCr8
mRatBN7.21458,509,583 - 58,605,017 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1458,509,811 - 58,604,696 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01460,857,924 - 60,953,504 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1460,857,989 - 60,952,088 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01460,971,449 - 61,066,225 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41463,279,907 - 63,382,130 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1457,607,651 - 57,702,630 (+)NCBICelera
Cytogenetic Map14q11NCBI
Ccdc149
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955480188,705 - 250,200 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955480156,614 - 252,370 (+)NCBIChiLan1.0ChiLan1.0
CCDC149
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2325,050,513 - 25,161,392 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1425,247,290 - 25,356,666 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0419,206,568 - 19,313,342 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1424,491,644 - 24,597,728 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl424,491,644 - 24,580,468 (-)Ensemblpanpan1.1panPan2
CCDC149
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1385,309,141 - 85,375,958 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl385,273,916 - 85,373,659 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha387,786,773 - 87,889,791 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0386,248,090 - 86,351,110 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl386,247,630 - 86,348,811 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1385,381,336 - 85,483,958 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0385,486,378 - 85,589,460 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0385,872,327 - 85,974,985 (+)NCBIUU_Cfam_GSD_1.0
Ccdc149
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528550,870,514 - 50,933,000 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364774,572,206 - 4,634,666 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC149
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl818,807,739 - 18,914,080 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1818,807,730 - 18,914,123 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2819,168,736 - 19,303,263 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC149
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12725,444,831 - 25,549,161 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2725,444,896 - 25,551,752 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604771,962,878 - 72,068,761 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc149
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247557,415,445 - 7,531,710 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC149
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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 4p16.3-15.2(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 4p16.3-14(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 4p15.31-15.2(chr4:21056309-26732162)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|See cases [RCV000053263] Chr4:21056309..26732162 [GRCh38]
Chr4:21057932..26733784 [GRCh37]
Chr4:20667030..26342882 [NCBI36]
Chr4:4p15.31-15.2		 pathogenic
NM_001130726.2(CCDC149):c.-1101T>A single nucleotide variant Lung cancer [RCV000094588] Chr4:24913980 [GRCh38]
Chr4:24915602 [GRCh37]
Chr4:4p15.2		 uncertain significance
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 4p15.2(chr4:23862000-27685546)x1 copy number loss See cases [RCV000135404] Chr4:23862000..27685546 [GRCh38]
Chr4:23863623..27687168 [GRCh37]
Chr4:23472721..27296266 [NCBI36]
Chr4:4p15.2		 pathogenic
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1 copy number loss See cases [RCV000135806] Chr4:16925022..32113076 [GRCh38]
Chr4:16926645..32114698 [GRCh37]
Chr4:16535743..31758596 [NCBI36]
Chr4:4p15.32-15.1		 pathogenic|likely 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
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 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 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 4p15.2-15.1(chr4:23458442-29252060)x1 copy number loss See cases [RCV000240221] Chr4:23458442..29252060 [GRCh37]
Chr4:4p15.2-15.1		 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
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 4p15.2-15.1(chr4:23790131-32302608)x1 copy number loss See cases [RCV000445756] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1		 likely 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-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_001395273.1(CCDC149):c.1258G>A (p.Ala420Thr) single nucleotide variant Inborn genetic diseases [RCV003256474] Chr4:24808739 [GRCh38]
Chr4:24810361 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.932A>G (p.His311Arg) single nucleotide variant Inborn genetic diseases [RCV003287328] Chr4:24831524 [GRCh38]
Chr4:24833146 [GRCh37]
Chr4:4p15.2		 uncertain significance
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 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p15.2(chr4:24773476-24871204)x3 copy number gain not provided [RCV000743450] Chr4:24773476..24871204 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p15.2(chr4:24955907-24967007)x1 copy number loss not provided [RCV000743451] Chr4:24955907..24967007 [GRCh37]
Chr4:4p15.2		 benign
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-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 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
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1		 pathogenic
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 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 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 4p15.31-15.1(chr4:20406475-29134345)x1 copy number loss not provided [RCV001005527] Chr4:20406475..29134345 [GRCh37]
Chr4:4p15.31-15.1		 pathogenic
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128) copy number loss not specified [RCV002053409] Chr4:19892850..37325128 [GRCh37]
Chr4:4p15.31-14		 pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608) copy number loss not specified [RCV002053411] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1		 likely 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 4p15.32-15.2(chr4:16249194-24864955)x1 copy number loss not provided [RCV002474848] Chr4:16249194..24864955 [GRCh37]
Chr4:4p15.32-15.2		 uncertain significance
NM_001395273.1(CCDC149):c.358C>A (p.Leu120Ile) single nucleotide variant Inborn genetic diseases [RCV002773276] Chr4:24838272 [GRCh38]
Chr4:24839894 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.48+17811A>T single nucleotide variant Inborn genetic diseases [RCV002859003] Chr4:24895006 [GRCh38]
Chr4:24896628 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.335G>A (p.Gly112Glu) single nucleotide variant Inborn genetic diseases [RCV002683814] Chr4:24853094 [GRCh38]
Chr4:24854716 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.746C>G (p.Ser249Trp) single nucleotide variant Inborn genetic diseases [RCV002688027] Chr4:24835007 [GRCh38]
Chr4:24836629 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.1597G>T (p.Val533Leu) single nucleotide variant Inborn genetic diseases [RCV002992447] Chr4:24808400 [GRCh38]
Chr4:24810022 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.955C>G (p.Leu319Val) single nucleotide variant Inborn genetic diseases [RCV002836652] Chr4:24822569 [GRCh38]
Chr4:24824191 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.1496A>C (p.Lys499Thr) single nucleotide variant Inborn genetic diseases [RCV002991336] Chr4:24808501 [GRCh38]
Chr4:24810123 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.374T>C (p.Ile125Thr) single nucleotide variant Inborn genetic diseases [RCV002981534] Chr4:24838256 [GRCh38]
Chr4:24839878 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.1235C>T (p.Ala412Val) single nucleotide variant Inborn genetic diseases [RCV002977010] Chr4:24808762 [GRCh38]
Chr4:24810384 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.430G>A (p.Glu144Lys) single nucleotide variant Inborn genetic diseases [RCV002874778] Chr4:24838200 [GRCh38]
Chr4:24839822 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.391G>A (p.Gly131Arg) single nucleotide variant Inborn genetic diseases [RCV002696641] Chr4:24838239 [GRCh38]
Chr4:24839861 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.1141G>C (p.Glu381Gln) single nucleotide variant Inborn genetic diseases [RCV002986751] Chr4:24819895 [GRCh38]
Chr4:24821517 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.539G>A (p.Arg180Gln) single nucleotide variant Inborn genetic diseases [RCV003004296] Chr4:24837336 [GRCh38]
Chr4:24838958 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.448C>A (p.Gln150Lys) single nucleotide variant Inborn genetic diseases [RCV002703590] Chr4:24838182 [GRCh38]
Chr4:24839804 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.1286G>C (p.Arg429Pro) single nucleotide variant Inborn genetic diseases [RCV002793017] Chr4:24808711 [GRCh38]
Chr4:24810333 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.275A>G (p.Asp92Gly) single nucleotide variant Inborn genetic diseases [RCV002939622] Chr4:24853154 [GRCh38]
Chr4:24854776 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.1302G>C (p.Lys434Asn) single nucleotide variant Inborn genetic diseases [RCV002812534] Chr4:24808695 [GRCh38]
Chr4:24810317 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14		 pathogenic
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
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
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
NM_001395273.1(CCDC149):c.1135T>A (p.Phe379Ile) single nucleotide variant Inborn genetic diseases [RCV003359208] Chr4:24819901 [GRCh38]
Chr4:24821523 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.721A>G (p.Asn241Asp) single nucleotide variant Inborn genetic diseases [RCV003361908] Chr4:24835032 [GRCh38]
Chr4:24836654 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_001395273.1(CCDC149):c.1138G>A (p.Val380Ile) single nucleotide variant Inborn genetic diseases [RCV003353870] Chr4:24819898 [GRCh38]
Chr4:24821520 [GRCh37]
Chr4:4p15.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2860
Count of miRNA genes:997
Interacting mature miRNAs:1195
Transcripts:ENST00000324309, ENST00000389609, ENST00000428116, ENST00000502801, ENST00000504487, ENST00000507096, ENST00000508236, ENST00000512432
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D4S2911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37424,840,554 - 24,840,742UniSTSGRCh37
Build 36424,449,652 - 24,449,840RGDNCBI36
Celera425,290,014 - 25,290,200RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,183,166 - 24,183,346UniSTS
Marshfield Genetic Map438.77RGD
Marshfield Genetic Map438.77UniSTS
Genethon Genetic Map438.3UniSTS
Whitehead-YAC Contig Map4 UniSTS
D4S3052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37424,877,876 - 24,878,001UniSTSGRCh37
Build 36424,486,974 - 24,487,099RGDNCBI36
Celera425,327,339 - 25,327,464RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,220,091 - 24,220,206UniSTS
Marshfield Genetic Map438.77RGD
Marshfield Genetic Map438.77UniSTS
Genethon Genetic Map438.3UniSTS
deCODE Assembly Map441.44UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-67338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37424,807,774 - 24,808,011UniSTSGRCh37
Build 36424,416,872 - 24,417,109RGDNCBI36
Celera425,257,242 - 25,257,479RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,150,277 - 24,150,514UniSTS
TNG Radiation Hybrid Map415244.0UniSTS
GeneMap99-GB4 RH Map493.69UniSTS
RH102387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37424,807,814 - 24,807,986UniSTSGRCh37
Build 36424,416,912 - 24,417,084RGDNCBI36
Celera425,257,282 - 25,257,454RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,150,317 - 24,150,489UniSTS
GeneMap99-GB4 RH Map495.86UniSTS
RH103641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37424,808,294 - 24,808,417UniSTSGRCh37
Build 36424,417,392 - 24,417,515RGDNCBI36
Celera425,257,762 - 25,257,885RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,150,797 - 24,150,920UniSTS
GeneMap99-GB4 RH Map495.86UniSTS
SHGC-142844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37424,903,926 - 24,904,197UniSTSGRCh37
Build 36424,513,024 - 24,513,295RGDNCBI36
Celera425,353,396 - 25,353,667RGD
Cytogenetic Map4p15.2UniSTS
TNG Radiation Hybrid Map415276.0UniSTS
SHGC-67371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37424,809,879 - 24,810,012UniSTSGRCh37
Build 36424,418,977 - 24,419,110RGDNCBI36
Celera425,259,347 - 25,259,480RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,152,382 - 24,152,515UniSTS
GeneMap99-GB4 RH Map495.86UniSTS
D4S1110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37424,934,355 - 24,934,527UniSTSGRCh37
Build 36424,543,453 - 24,543,625RGDNCBI36
Celera425,383,845 - 25,384,017RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,275,854 - 24,276,026UniSTS
TNG Radiation Hybrid Map415287.0UniSTS


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 1735 1318 875 148 76 14 2221 890 2287 50 780 1177 134 874 1508
Low 664 1640 839 467 1245 441 2126 1304 1434 362 667 426 40 1 330 1280 2 2
Below cutoff 21 25 8 8 258 9 7 12 7 6 8

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001130726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC113614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL545064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ671265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB243678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA950851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB244172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB500831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC422585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR423861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl424,826,940 - 24,980,204 (-)Ensembl
RefSeq Acc Id: ENST00000389609   ⟹   ENSP00000374260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl424,807,996 - 24,980,148 (-)Ensembl
RefSeq Acc Id: ENST00000502801   ⟹   ENSP00000427529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl424,808,188 - 24,912,954 (-)Ensembl
RefSeq Acc Id: ENST00000504487   ⟹   ENSP00000425715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl424,806,117 - 24,912,886 (-)Ensembl
RefSeq Acc Id: ENST00000507096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl424,808,672 - 24,820,197 (-)Ensembl
RefSeq Acc Id: ENST00000508236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl424,821,057 - 24,823,045 (-)Ensembl
RefSeq Acc Id: ENST00000512432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl424,836,436 - 24,853,268 (-)Ensembl
RefSeq Acc Id: ENST00000635206   ⟹   ENSP00000488929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl424,803,514 - 24,913,042 (-)Ensembl
RefSeq Acc Id: NM_001130726   ⟹   NP_001124198
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38424,803,514 - 24,913,042 (-)NCBI
GRCh37424,807,739 - 24,981,826 (-)RGD
Celera425,257,207 - 25,430,723 (-)RGD
HuRef424,150,242 - 24,322,736 (-)RGD
CHM1_1424,807,112 - 24,913,956 (-)NCBI
T2T-CHM13v2.0424,785,445 - 24,894,962 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330644   ⟹   NP_001317573
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38424,806,117 - 24,913,042 (-)NCBI
T2T-CHM13v2.0424,788,048 - 24,894,962 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001395273   ⟹   NP_001382202
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38424,803,514 - 24,913,042 (-)NCBI
T2T-CHM13v2.0424,785,445 - 24,894,962 (-)NCBI
RefSeq Acc Id: NM_173463   ⟹   NP_775734
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38424,806,117 - 24,980,204 (-)NCBI
GRCh37424,807,739 - 24,981,826 (-)RGD
Build 36424,437,679 - 24,590,924 (-)NCBI Archive
Celera425,257,207 - 25,430,723 (-)RGD
HuRef424,150,242 - 24,322,736 (-)RGD
CHM1_1424,807,112 - 24,981,193 (-)NCBI
T2T-CHM13v2.0424,788,048 - 24,962,121 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513906   ⟹   XP_011512208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38424,803,514 - 24,913,042 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513907   ⟹   XP_011512209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38424,803,514 - 24,913,042 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513908   ⟹   XP_011512210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38424,803,514 - 24,980,134 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008827   ⟹   XP_016864316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38424,803,514 - 24,913,042 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054351219   ⟹   XP_054207194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0424,785,445 - 24,894,962 (-)NCBI
RefSeq Acc Id: XM_054351220   ⟹   XP_054207195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0424,785,445 - 24,894,962 (-)NCBI
RefSeq Acc Id: XM_054351221   ⟹   XP_054207196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0424,785,445 - 24,894,962 (-)NCBI
RefSeq Acc Id: XM_054351222   ⟹   XP_054207197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0424,785,445 - 24,962,053 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_775734   ⟸   NM_173463
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6ZUS6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124198   ⟸   NM_001130726
- Peptide Label: isoform 2
- UniProtKB: A0A8V8PSJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512210   ⟸   XM_011513908
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011512208   ⟸   XM_011513906
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011512209   ⟸   XM_011513907
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016864316   ⟸   XM_017008827
- Peptide Label: isoform X2
- UniProtKB: Q6ZUS6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317573   ⟸   NM_001330644
- Peptide Label: isoform 4
- UniProtKB: Q6NW41 (UniProtKB/Swiss-Prot),   G5EA04 (UniProtKB/Swiss-Prot),   B4DZG3 (UniProtKB/Swiss-Prot),   B4DK90 (UniProtKB/Swiss-Prot),   A6NJE7 (UniProtKB/Swiss-Prot),   Q8N3K8 (UniProtKB/Swiss-Prot),   Q6ZUS6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000427529   ⟸   ENST00000502801
RefSeq Acc Id: ENSP00000488929   ⟸   ENST00000635206
RefSeq Acc Id: ENSP00000425715   ⟸   ENST00000504487
RefSeq Acc Id: ENSP00000374260   ⟸   ENST00000389609
RefSeq Acc Id: NP_001382202   ⟸   NM_001395273
- Peptide Label: isoform 3
- UniProtKB: A0A0U1RQD2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207197   ⟸   XM_054351222
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054207196   ⟸   XM_054351221
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054207195   ⟸   XM_054351220
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207194   ⟸   XM_054351219
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZUS6-F1-model_v2 AlphaFold Q6ZUS6 1-474 view protein structure

Promoters
RGD ID:6802109
Promoter ID:HG_KWN:47982
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000324309
Position:
Human AssemblyChrPosition (strand)Source
Build 36424,590,531 - 24,591,057 (-)MPROMDB
RGD ID:6867144
Promoter ID:EPDNEW_H6737
Type:initiation region
Name:CCDC149_1
Description:coiled-coil domain containing 149
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38424,913,032 - 24,913,092EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25405 AgrOrtholog
COSMIC CCDC149 COSMIC
Ensembl Genes ENSG00000181982 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000389609 ENTREZGENE
  ENST00000389609.8 UniProtKB/Swiss-Prot
  ENST00000502801.1 UniProtKB/TrEMBL
  ENST00000504487 ENTREZGENE
  ENST00000504487.5 UniProtKB/TrEMBL
  ENST00000635206 ENTREZGENE
  ENST00000635206.3 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.1490 UniProtKB/Swiss-Prot
GTEx ENSG00000181982 GTEx
HGNC ID HGNC:25405 ENTREZGENE
Human Proteome Map CCDC149 Human Proteome Map
InterPro Coiled-coil_dom-contain_pr_149 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91050 UniProtKB/Swiss-Prot
NCBI Gene 91050 ENTREZGENE
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 149 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21682 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF2353 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162381560 PharmGKB
UniProt A0A0U1RQD2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8PSJ6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8PVV8_HUMAN UniProtKB/TrEMBL
  A6NJE7 ENTREZGENE
  B4DK90 ENTREZGENE
  B4DZG3 ENTREZGENE
  CC149_HUMAN UniProtKB/Swiss-Prot
  G5EA04 ENTREZGENE
  Q6NW41 ENTREZGENE
  Q6ZUS6 ENTREZGENE
  Q8N3K8 ENTREZGENE
UniProt Secondary A6NJE7 UniProtKB/Swiss-Prot
  B4DK90 UniProtKB/Swiss-Prot
  B4DZG3 UniProtKB/Swiss-Prot
  G5EA04 UniProtKB/Swiss-Prot
  Q6NW41 UniProtKB/Swiss-Prot
  Q8N3K8 UniProtKB/Swiss-Prot