AutismKB 2.0

Annotation Detail for SCFD1


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Basic Information Top
Gene Symbol:SCFD1 ( C14orf163,KIAA0917,RA410,SLY1,STXBP1L2 )
Gene Full Name: sec1 family domain containing 1
Band: 14q12
Quick LinksEntrez ID:23256; OMIM: NA; Uniprot ID:SCFD1_HUMAN; ENSEMBL ID: ENSG00000092108; HGNC ID: 20726
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body7 / 7076198
blastocyst6 / 6231996
fetus56 / 56401299
neonate5 / 31097160
infant3 / 23620127
juvenile3 / 5555653
adult186 / 193912195
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma9 / 82823108
colorectal tumor9 / 11424678
esophageal tumor2 / 17290115
gastrointestinal tumor12 / 119369100
germ cell tumor11 / 26384541
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor7 / 68959101
leukemia7 / 9584273
liver tumor8 / 9635983
lung tumor2 / 10312719
lymphoma3 / 7175541
non-neoplasia13 / 97250133
normal287 / 336030785
ovarian tumor5 / 7668265
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor60 / 125191479
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder3 / 29757100
blood12 / 12347897
bone10 / 71655139
bone marrow3 / 4880161
brain80 / 110098972
cervix3 / 4817162
connective tissue63 / 149255422
ear2 / 16212123
embryonic tissue23 / 215722106
esophagus3 / 20209148
eye7 / 21105433
heart9 / 89626100
intestine15 / 23447263
kidney27 / 211777127
larynx2 / 2414582
liver14 / 20774367
lung9 / 33697426
lymph2 / 4427045
lymph node5 / 9161054
mammary gland5 / 15327132
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary7 / 10205168
pancreas19 / 21481288
parathyroid1 / 2053948
pharynx4 / 4132896
pituitary gland5 / 16585301
placenta30 / 280825106
prostate9 / 18934547
salivary gland1 / 2015549
skin14 / 21057466
spleen5 / 5395292
stomach9 / 9661993
testis20 / 33044260
thymus6 / 8113173
thyroid4 / 4747384
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus34 / 232878145
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215548_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts211.5
Adipocyte64.35
AdrenalCortex49.3
Adrenalgland20.75
Amygdala116.2
Appendix55.6
AtrioventricularNode27.9
BDCA4+_DentriticCells231.6
Bonemarrow23.15
BronchialEpithelialCells81.5
CD105+_Endothelial234.85
CD14+_Monocytes116.25
CD19+_BCells(neg._sel.)136.05
CD33+_Myeloid177.75
CD34+146.95
CD4+_Tcells69.75
CD56+_NKCells148.7
CD71+_EarlyErythroid146.4
CD8+_Tcells92.05
CardiacMyocytes50.95
Caudatenucleus55.45
Cerebellum18.3
CerebellumPeduncles17.1
CiliaryGanglion24.15
CingulateCortex69.65
Colorectaladenocarcinoma34.75
DorsalRootGanglion33.4
FetalThyroid52.2
Fetalbrain76.35
Fetalliver76.75
Fetallung81.65
GlobusPallidus33.45
Heart33.7
Hypothalamus101.8
Kidney15.05
Leukemia_chronicMyelogenousK-56265.85
Leukemia_promyelocytic-HL-6069.05
Leukemialymphoblastic(MOLT-4)44.5
Liver32
Lung20.35
Lymphnode48.9
Lymphoma_burkitts(Daudi)98.45
Lymphoma_burkitts(Raji)148.3
MedullaOblongata51.45
OccipitalLobe72.75
OlfactoryBulb39.45
Ovary20.4
Pancreas76.3
PancreaticIslet153.3
ParietalLobe30.65
Pituitary229.3
Placenta30.8
Pons61.7
PrefrontalCortex82.4
Prostate52.25
Salivarygland66.95
SkeletalMuscle34.8
Skin17.65
SmoothMuscle214.3
Spinalcord37.3
SubthalamicNucleus53.35
SuperiorCervicalGanglion41.6
TemporalLobe27.65
Testis20.5
TestisGermCell77.15
TestisIntersitial45.5
TestisLeydigCell84.45
TestisSeminiferousTubule40.3
Thalamus75.15
Thymus14.3
Thyroid283.25
Tongue36.25
Tonsil48.05
Trachea54.3
TrigeminalGanglion18.45
Uterus77.3
UterusCorpus24.6
WholeBlood118.6
Wholebrain32.2
colon147.15
pineal_day136.72
pineal_night141.36
retina41.575
small_intestine108.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10487_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala9.51 ± 0.22
Basal Forebrain9.47 ± 0.15
Basal Part of Pons9.67 ± 0.15
Cerebellar Cortex9.76 ± 0.16
Cerebellar Nuclei9.53 ± 0.2
Claustrum9.38 ± 0.25
Epithalamus9.6 ± 0.2
Frontal Lobe9.7 ± 0.22
Globus Pallidus9.17 ± 0.18
Hypothalamus9.75 ± 0.24
Insula9.76 ± 0.21
Limbic Lobe9.59 ± 0.29
Mesencephalon9.58 ± 0.18
Myelencephalon9.55 ± 0.27
Occipital Lobe9.53 ± 0.23
Parietal Lobe9.6 ± 0.28
Pontine Tegmentum9.6 ± 0.35
Striatum9.55 ± 0.27
Subthalamus9.67 ± 0.31
Temporal Lobe9.62 ± 0.22
Thalamus9.55 ± 0.22
White Matter9.29 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Scfd1CBCerebellum11.25
9.79
Scfd1CTXCerebral cortex2.92
2.09
Scfd1HIPHippocampal region5.5
4.75
Scfd1HPFHippocampal formation4.03
3.19
Scfd1HYHypothalamus0.34
0.22
Scfd1LSXLateral septal complex0.1
0.06
Scfd1MBMidbrain1.36
1.1
Scfd1MYMedulla4.67
4.47
Scfd1OLFOlfactory bulb2.97
1.8
Scfd1PPons1.69
1.47
Scfd1PALPallidum1.13
0.79
Scfd1RHPRetrohippocampal region1.45
0.96
Scfd1sAMYStriatum-like amygdalar nuclei0.48
0.29
Scfd1STRStriatum0.49
0.38
Scfd1STRdStriatum dorsal region0.56
0.45
Scfd1STRvStriatum ventral region0.39
0.26
Scfd1THThalamus2.24
1.61
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000560 16 487 502 ALTDAGCNLNPLQYIK Peptide Atlas
SCFD1_HUMAN_1 15 1 15 AAAAAATAAAAASIR PRIDE
SCFD1_HUMAN_2 15 2 16 AAAAAATAAAAASIR PRIDE
SCFD1_HUMAN_256 8 256 263 PLLVLVDR PRIDE
SCFD1_HUMAN_359 22 359 380 SIMGLEGEDEGAISMLSDNTAK PRIDE
SCFD1_HUMAN_522 14 522 535 VMNTGSQFVMEGVK PRIDE

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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