AutismKB 2.0

Annotation Detail for SPEF2


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Basic Information Top
Gene Symbol:SPEF2 ( CT122,FLJ23164,FLJ23577,FLJ25395,KIAA1770,KPL2,MGC102842 )
Gene Full Name: sperm flagellar 2
Band: 5p13.2
Quick LinksEntrez ID:79925; OMIM: 610172; Uniprot ID:SPEF2_HUMAN; ENSEMBL ID: ENSG00000152582; HGNC ID: 26293
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 body0 / 707610 
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult30 / 193912115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal59 / 336030717
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain24 / 110098921
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine1 / 2344724
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis5 / 33044215
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P252388
  • 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
Amygdala6.23 ± 1.22
Basal Forebrain6.02 ± 0.86
Basal Part of Pons7.03 ± 0.63
Cerebellar Cortex6.78 ± 0.6
Cerebellar Nuclei6.28 ± 1.39
Claustrum6.61 ± 0.67
Epithalamus6.48 ± 1.34
Frontal Lobe5.76 ± 1.22
Globus Pallidus7.55 ± 1.28
Hypothalamus5.05 ± 1.93
Insula5.06 ± 1.32
Limbic Lobe5.53 ± 1.03
Mesencephalon6.19 ± 1.28
Myelencephalon5.96 ± 1.31
Occipital Lobe6.6 ± 1.43
Parietal Lobe6.09 ± 1.31
Pontine Tegmentum5.87 ± 1.11
Striatum6.2 ± 1.53
Subthalamus6.61 ± 0.44
Temporal Lobe5.58 ± 1.31
Thalamus6.21 ± 0.86
White Matter6.24 ± 1.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
C230086A09RikCBCerebellum0.23
0.37
C230086A09RikCTXCerebral cortex0.38
0.38
C230086A09RikHIPHippocampal region0.25
0.37
C230086A09RikHPFHippocampal formation0.35
0.39
C230086A09RikHYHypothalamus0.06
0.29
C230086A09RikLSXLateral septal complex0.06
0.03
C230086A09RikMBMidbrain0.15
0.34
C230086A09RikMYMedulla0.16
0.27
C230086A09RikOLFOlfactory bulb0.39
0.41
C230086A09RikPPons0.08
0.08
C230086A09RikPALPallidum0.06
0.04
C230086A09RikRHPRetrohippocampal region0.51
0.44
C230086A09RiksAMYStriatum-like amygdalar nuclei0.07
0.2
C230086A09RikSTRStriatum0.05
0.07
C230086A09RikSTRdStriatum dorsal region0.02
0.02
C230086A09RikSTRvStriatum ventral region0.13
0.13
C230086A09RikTHThalamus0.09
0.13
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005590 12 795 806 MNDIIAEELSYK Peptide Atlas

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